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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FAT1	2195	broad.mit.edu	37	4	187527260	187527260	+	Silent	SNP	G	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:187527260G>T	uc003izf.3	-	16	10502	c.10314C>A	c.(10312-10314)ccC>ccA	p.P3438P		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3438	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.P3438P(2)|p.P3441P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGAGAAGACGGGCGCGTTGT	0.522000										HNSCC(5;0.00058)				99			12		5.50884e-06	5.82363e-06	1	1	0
KCNS2	3788	broad.mit.edu	37	8	99440360	99440360	+	Silent	SNP	G	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:99440360G>A	uc003yin.3	+	1	503	c.153G>A	c.(151-153)tcG>tcA	p.S51S	KCNS2_uc022azb.1_Silent_p.S51S	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	51						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCTGCCACTCGCGCGAGGCCA	0.632000														23			20		0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81124587	81124587	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:81124587G>C	uc010ijo.3	+	7	2810	c.1971G>C	c.(1969-1971)ttG>ttC	p.L657F	PRDM8_uc003hmb.4_Missense_Mutation_p.L657F|PRDM8_uc003hmc.4_Missense_Mutation_p.L657F	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TGGAGCCCTTGGTGAAGCGGC	0.567000														104			14		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739266	38739266	+	Silent	SNP	G	A	A	rs111535651		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:38739266G>A	uc003ciq.3	-	26	5445	c.5445C>T	c.(5443-5445)tcC>tcT	p.S1815S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1815					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAACTCCCCGGATTCTCCTA	0.438000														106			4		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130219620	130219620	+	Silent	SNP	C	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:130219620C>A	uc004evz.3	+	7	1359	c.1014C>A	c.(1012-1014)ccC>ccA	p.P338P	ARHGAP36_uc004ewa.3_Silent_p.P326P|ARHGAP36_uc004ewb.3_Silent_p.P307P|ARHGAP36_uc004ewc.3_Silent_p.P202P	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	338	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGATGCCACCCTGCCACAGTG	0.507000														73			4		0.00909568	0.00909568	1	1	0
MPPED2	744	broad.mit.edu	37	11	30601906	30601906	+	Silent	SNP	A	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:30601906A>G	uc001msr.3	-	0	136	c.15T>C	c.(13-15)atT>atC	p.I5I	MPPED2_uc001msq.3_Silent_p.I5I|MPPED2_uc009yji.3_5'UTR	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA.	5					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTTGAGAAGGAATCCCATGTG	0.493000														194			4		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615316	55615316	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:55615316G>A	uc010spf.2	+	0	508	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCCTTTCTGTGGACCAAATGC	0.498000														265			5		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197106878	197106878	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:197106878C>T	uc002utm.1	-	19	3763	c.3580G>A	c.(3580-3582)Gaa>Aaa	p.E1194K	HECW2_uc002utl.1_Missense_Mutation_p.E838K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1194					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.F1193F(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGTTTGGCTTCGAAATCCCGC	0.483000														115			18		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349348	89349348	+	Missense_Mutation	SNP	A	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr16:89349348A>T	uc002fmx.1	-	8	4063	c.3602T>A	c.(3601-3603)gTc>gAc	p.V1201D	ANKRD11_uc002fmy.1_Missense_Mutation_p.V1201D|ANKRD11_uc002fnc.1_Missense_Mutation_p.V1201D|ANKRD11_uc002fnb.1_Missense_Mutation_p.V1158D	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1201	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTTTCAAAGACTTTCTCTTT	0.502000														67			9		0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14513818	14513818	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:14513818A>G	uc010heg.3	+	9	1501	c.1202A>G	c.(1201-1203)gAt>gGt	p.D401G	SLC6A6_uc003byq.3_Missense_Mutation_p.D401G|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	401					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTTGGACTGGATAGCCAGGTG	0.537000														109			4		0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123663959	123663959	+	Silent	SNP	T	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:123663959T>C	uc021xrm.1	+	2	1293	c.912T>C	c.(910-912)tgT>tgC	p.C304C	BBS12_uc003ieu.3_Silent_p.C304C|BBS12_uc021xrn.1_Silent_p.C304C	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	304					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAGGCAACTGTACAAAACCAT	0.408000									Bardet-Biedl syndrome					146			4		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969446	5969446	+	Silent	SNP	C	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:5969446C>A	uc010qzt.2	+	0	870	c.870C>A	c.(868-870)gcC>gcA	p.A290A		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCTGCAGCCCTTAACCCCA	0.478000														145			4		0.00116845	0.0012009	1	1	0
OR52D1	390066	broad.mit.edu	37	11	5510050	5510050	+	Silent	SNP	T	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:5510050T>C	uc010qzg.2	+	0	136	c.114T>C	c.(112-114)taT>taC	p.Y38Y	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCCATGTATCTTGTAGCAC	0.507000														298			6		0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11922578	11922578	+	Silent	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:11922578C>T	uc010yjm.2	+	8	1409	c.1356C>T	c.(1354-1356)ccC>ccT	p.P452P	LPIN1_uc010yjn.2_Silent_p.P367P|LPIN1_uc002rbt.3_Silent_p.P367P|LPIN1_uc002rbs.3_Silent_p.P403P	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	367					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCAAACCCCCCTCTGCCAGTG	0.517000														61			3		0	0	1	0	0
LYZL4	131375	broad.mit.edu	37	3	42438812	42438812	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:42438812C>T	uc003cle.3	-	4	635	c.386G>A	c.(385-387)cGg>cAg	p.R129Q		NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN	Homo sapiens lysozyme-like 4 (LYZL4), mRNA.	129					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.R129R(1)		central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CTGGCAGTACCGGGACCAGGT	0.577000														71			3		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746664	95746664	+	Silent	SNP	G	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:95746664G>A	uc003kls.2	-	7	1148	c.909C>T	c.(907-909)ttC>ttT	p.F303F	PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Silent_p.F256F	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	303	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGCCCAGACGAAGATGGACC	0.498000														92			4		0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120510407	120510407	+	Silent	SNP	G	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:120510407G>A	uc001txl.1	+	5	1207	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	CCDC64_uc001txk.2_Silent_p.T394T|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Silent_p.T43T	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	394					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGTCTCCACGGACTCCTCCA	0.572000														92			3		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108216609	108216609	+	Missense_Mutation	SNP	C	T	T	rs141534716		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:108216609C>T	uc001pkb.1	+	57	8943	c.8558C>T	c.(8557-8559)aCg>aTg	p.T2853M	ATM_uc009yxr.1_Missense_Mutation_p.T2853M|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.T1505M	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2853	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.T2853M(3)|p.Y2852fs*4(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTGGCTTATACGCGCAGTGTA	0.368000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				211			4		0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107715150	107715150	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:107715150T>C	uc011lht.2	+	6	794	c.695T>C	c.(694-696)gTg>gCg	p.V232A	OXR1_uc022azp.1_Missense_Mutation_p.V231A|OXR1_uc003ymf.3_Missense_Mutation_p.V231A|OXR1_uc011lhu.2_Missense_Mutation_p.V224A|OXR1_uc010mcg.3_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.V164A|OXR1_uc003ymi.1_Missense_Mutation_p.V143A	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	232	GRAM.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GTCAGTGGTGTGCTGCTAGTT	0.348000														88			4		0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196571	8196571	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:8196571G>C	uc001qtu.3	+	4	1587	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	FOXJ2_uc001qtt.1_Missense_Mutation_p.E168Q	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	168					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		ACCAGAACAGGAGGCAAGCAA	0.542000														131			5		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652931	152652931	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr6:152652931C>G	uc021zhb.1	-	75	13112	c.12889G>C	c.(12889-12891)Gat>Cat	p.D4297H	SYNE1_uc003qot.4_Missense_Mutation_p.D4226H|SYNE1_uc003qou.4_Missense_Mutation_p.D4297H|SYNE1_uc010kiz.3_Missense_Mutation_p.D52H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4297					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTTTTGATCTTTCAGATCT	0.398000										HNSCC(10;0.0054)				67			40		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118535252	118535252	+	Missense_Mutation	SNP	G	A	A	rs147490539		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:118535252G>A	uc001ehk.2	-	35	5266	c.5198C>T	c.(5197-5199)cCg>cTg	p.P1733L	SPAG17_uc021osr.1_Missense_Mutation_p.P243L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1733						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGTACCAAACGGAGGTCCTGG	0.413000														59			11		0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134474162	134474162	+	Missense_Mutation	SNP	T	G	G	rs146292003		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:134474162T>G	uc003yuk.2	-	8	1634	c.805A>C	c.(805-807)Acc>Ccc	p.T269P	ST3GAL1_uc003yum.2_Missense_Mutation_p.T269P	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	269					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.T269T(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			AGGATGCCGGTAGATGGGTAT	0.587000														83			6		0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350193	65350193	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:65350193G>T	uc001oeo.4	+	8	2315	c.2050G>T	c.(2050-2052)Gat>Tat	p.D684Y		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	684	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GATATCTGGGGATTTAGGGCC	0.507000														69			11		2.80697e-09	3.01038e-09	1	1	0
CASC5	57082	broad.mit.edu	37	15	40943724	40943724	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:40943724A>G	uc010bbs.1	+	20	6507	c.6346A>G	c.(6346-6348)Atg>Gtg	p.M2116V	CASC5_uc010bbt.1_Missense_Mutation_p.M2090V	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	2116	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AATAGACTTTATGCAAAAACA	0.363000														165			4		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31283282	31283282	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr16:31283282A>G	uc002ebr.3	+	6	771	c.673A>G	c.(673-675)Aca>Gca	p.T225A	ITGAM_uc002ebq.3_Missense_Mutation_p.T225A	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	225	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCTTGGGCGGACACACACGGC	0.507000														108			87		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36859706	36859706	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr20:36859706C>T	uc002xhy.1	-	4	2041	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q	KIAA1755_uc002xhz.1_Missense_Mutation_p.R590Q	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	590										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AAGCAGGGGCCGCCCGGCCCT	0.637000														46			7		0	0	1	0	0
FAM98B	283742	broad.mit.edu	37	15	38773557	38773557	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:38773557C>T	uc001zkc.3	+	6	829	c.794C>T	c.(793-795)aCg>aTg	p.T265M	FAM98B_uc001zkb.1_Missense_Mutation_p.T265M	NM_173611	NP_775882	Q52LJ0	FA98B_HUMAN	Homo sapiens family with sequence similarity 98, member B (FAM98B), transcript variant 1, mRNA.	265						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		CCCAAGACAACGATTACAATG	0.408000														172			82		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466067	56466067	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:56466067G>A	uc002qmh.3	+	2	714	c.643G>A	c.(643-645)Gga>Aga	p.G215R	NLRP8_uc010etg.3_Missense_Mutation_p.G215R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	215	NACHT.					cytoplasm	ATP binding	p.G215V(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCTGGGATCGGAAAAACAAT	0.527000														108			89		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99130534	99130534	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr10:99130534A>G	uc001knf.3	-	21	2661	c.2522T>C	c.(2521-2523)cTa>cCa	p.L841P	RRP12_uc009xvl.3_5'UTR|RRP12_uc009xvm.3_Missense_Mutation_p.L559P|RRP12_uc010qou.2_Missense_Mutation_p.L780P|RRP12_uc009xvn.3_Missense_Mutation_p.L741P	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	841						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)		CACGATGTGTAGGAGGCACTT	0.567000														136			4		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46976325	46976325	+	Silent	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:46976325C>T	uc003gxg.3	-	5	1628	c.645G>A	c.(643-645)ccG>ccA	p.P215P	GABRA4_uc021xnz.1_Silent_p.P196P|GABRA4_uc021xoa.1_Silent_p.P196P	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	215					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.P215L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGACTCCTTCGGAACTTCAA	0.398000														195			5		0	0	1	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160804293	160804293	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:160804293C>T	uc003fdv.3	-	4	669	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	B3GALNT1_uc003fdw.3_Missense_Mutation_p.V84M|B3GALNT1_uc003fdx.3_Missense_Mutation_p.V84M|B3GALNT1_uc003fdy.3_Missense_Mutation_p.V84M|B3GALNT1_uc003fdz.3_Missense_Mutation_p.V84M|B3GALNT1_uc003fea.3_Missense_Mutation_p.V84M|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Missense_Mutation_p.V84M	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	84					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TGGGAGGTCACCAGAATGACC	0.428000														42			3		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14589046	14589046	+	Missense_Mutation	SNP	T	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:14589046T>G	uc001rbw.3	+	3	1810	c.1652T>G	c.(1651-1653)tTt>tGt	p.F551C	ATF7IP_uc010shs.1_Missense_Mutation_p.F550C|ATF7IP_uc001rbu.3_Missense_Mutation_p.F551C|ATF7IP_uc001rbv.1_Missense_Mutation_p.F550C|ATF7IP_uc001rbx.3_Missense_Mutation_p.F550C|ATF7IP_uc010sht.1_Missense_Mutation_p.F551C|ATF7IP_uc001rby.4_Missense_Mutation_p.F551C|ATF7IP_uc001rca.3_Missense_Mutation_p.F551C	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	551	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCAGATGAATTTTCTAGACGA	0.333000														97			7		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116411695	116411695	+	Silent	SNP	A	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr7:116411695A>G	uc003vij.3	+	12	3061	c.2874A>G	c.(2872-2874)agA>agG	p.R958R	MET_uc010lkh.3_Silent_p.R976R|MET_uc011knj.2_Silent_p.R528R	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	958					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.V957V(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGAAAAAGAGAAAGCAAATTA	0.358000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					152			4		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7400726	7400726	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:7400726C>T	uc002ghf.4	+	5	1257	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	POLR2A_uc002ghe.3_Missense_Mutation_p.R291W	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	291					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAATCAGCTGCGGCGCAATGA	0.567000														76			11		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140569001	140569001	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:140569001T>C	uc003liw.1	+	1	2107	c.2107T>C	c.(2107-2109)Tcg>Ccg	p.S703P	PCDHB10_uc003lix.3_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCCTCCTCTCGGTGCTCCT	0.701000														17			4		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72306262	72306262	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:72306262T>C	uc002jkf.3	+	10	1564	c.1454T>C	c.(1453-1455)cTc>cCc	p.L485P	DNAI2_uc002jkg.3_Missense_Mutation_p.L473P|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	485					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCGCCTGGGCTCTCTACCCTC	0.642000									Kartagener syndrome					25			3		0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1589396	1589396	+	Missense_Mutation	SNP	A	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:1589396A>T	uc010itg.1	-	2	394	c.317T>A	c.(316-318)aTa>aAa	p.I106K	SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		TCATGTTCTTATGCTTCCATC	0.463000														49			55		0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112357042	112357042	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:112357042T>C	uc003dzf.3	-	1	1929	c.1711A>G	c.(1711-1713)Aag>Gag	p.K571E	CCDC80_uc011bhv.2_Missense_Mutation_p.K571E|CCDC80_uc003dzg.3_Missense_Mutation_p.K571E|CCDC80_uc003dzh.1_Missense_Mutation_p.K571E	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	571	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ttctcagacttcttcatttgc	0.368000														139			4		0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152956889	152956889	+	Silent	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:152956889C>T	uc004fib.3	+	2	803	c.525C>T	c.(523-525)acC>acT	p.T175T	SLC6A8_uc004fic.3_Silent_p.T175T|SLC6A8_uc011myx.1_Silent_p.T60T|SLC6A8_uc010nuj.2_5'Flank|SLC6A8_uc010nui.1_Silent_p.T60T	NM_005629	NP_001136278	P48029	SC6A8_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	175					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GTGGCCACACCTGGAACACTC	0.592000														183			4		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116325094	116325094	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr6:116325094C>T	uc003pwi.1	-	1	859	c.412G>A	c.(412-414)Ggt>Agt	p.G138S		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	138	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G138R(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AGAAAGGAACCGGTCTTGTTT	0.368000														70			3		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203956	135203956	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr9:135203956C>T	uc004cbk.3	-	9	3212	c.3029G>A	c.(3028-3030)cGt>cAt	p.R1010H	SETX_uc004cbj.3_Missense_Mutation_p.R629H|SETX_uc010mzt.3_Missense_Mutation_p.R629H	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1010					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AACCTGTCCACGGGAGGTATC	0.388000														102			4		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585926	82585926	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr7:82585926T>C	uc003uhx.2	-	4	4632	c.4343A>G	c.(4342-4344)gAc>gGc	p.D1448G	PCLO_uc003uhv.2_Missense_Mutation_p.D1448G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1379					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCTCTTGGTCTTTAGGCTG	0.363000														181			5		0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777314	123777314	+	Missense_Mutation	SNP	T	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:123777314T>A	uc010saa.2	+	0	176	c.176T>A	c.(175-177)aTg>aAg	p.M59K		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M59T(2)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CATACCCCCATGTACTATTTC	0.398000														275			7		0	0	1	0	0
FBXL17	64839	broad.mit.edu	37	5	107700539	107700539	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:107700539A>G	uc011cvc.2	-	2	1681	c.1274T>C	c.(1273-1275)cTt>cCt	p.L425P	FBXL17_uc003kon.4_Missense_Mutation_p.L27P	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 17 (FBXL17), mRNA.	425										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGTGTCAGAAAGCTGTTTACA	0.423000														96			4		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173506159	173506159	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:173506159C>T	uc001giz.2	-	13	2000	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H	SLC9C2_uc009wwe.2_Missense_Mutation_p.R84H|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	526					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TCCATTGTTACGCTGTTTTTC	0.333000														28			49		0	0	1	0	0
DCTPP1	79077	broad.mit.edu	37	16	30435593	30435593	+	Silent	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr16:30435593C>T	uc002dyf.3	-	2	546	c.474G>A	c.(472-474)gcG>gcA	p.A158A	ZNF771_uc010bzx.2_Intron	NM_024096	NP_077001	Q9H773	DCTP1_HUMAN	Homo sapiens dCTP pyrophosphatase 1 (DCTPP1), mRNA.	158					nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						AGGGAATGTCCGCAGGCCCCA	0.607000														100			4		0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17408682	17408682	+	Silent	SNP	T	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:17408682T>C	uc001mna.3	-	0	1525	c.957A>G	c.(955-957)gtA>gtG	p.V319V	KCNJ11_uc001mnb.4_Silent_p.V232V	NM_000525	NP_001159762	B4DWI4	B4DWI4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	232						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CCTCCTCAGCTACAATGGGCA	0.612000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		199			4		0	0	1	0	0
GOLGA6L6	727832	broad.mit.edu	37	15	20740084	20740084	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:20740084G>C	uc001ytk.2	-	7	1757	c.1666C>G	c.(1666-1668)Cag>Gag	p.Q556E	DQ594309_uc010tzb.1_5'Flank	NM_001145004	NP_001138476	A8MZA4	GG6L6_HUMAN	Homo sapiens golgin A6 family-like 6 (GOLGA6L6), mRNA.	556	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						ATCTTCTCCTGCTCATGCATc	0.562000														299			7		0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32321694	32321694	+	Missense_Mutation	SNP	T	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr10:32321694T>A	uc001iwe.4	-	12	1784	c.1314A>T	c.(1312-1314)gaA>gaT	p.E438D		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	438					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTGGTTAATTTCTTCATCCT	0.393000			T	"""RET, ALK"""	NSCLC									153			8		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578280	7578280	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:7578280G>A	uc002gim.2	-	5	763	c.569C>T	c.(568-570)cCt>cTt	p.P190L	TP53_uc002gig.1_Missense_Mutation_p.P190L|TP53_uc002gih.3_Missense_Mutation_p.P190L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P58L|TP53_uc010cnf.1_Missense_Mutation_p.P58L|TP53_uc002gii.1_Missense_Mutation_p.P58L|TP53_uc010cni.1_Missense_Mutation_p.P190L|TP53_uc010cnh.1_Missense_Mutation_p.P190L|TP53_uc002gij.2_Missense_Mutation_p.P190L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P97L|TP53_uc002gio.2_Missense_Mutation_p.P58L|TP53_uc010vug.2_Missense_Mutation_p.P151L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	190	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P190L(43)|p.P190fs*57(12)|p.P190del(12)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(7)|p.P190S(6)|p.P190F(4)|p.A189V(4)|p.P190R(4)|p.P190T(4)|p.A189T(3)|p.A189_Q192>E(2)|p.G187fs*16(2)|p.D186_P191delDGLAPP(2)|p.P190A(2)|p.A189P(2)|p.A189fs*53(2)|p.P190H(2)|p.A189G(2)|p.A189A(2)|p.L188_P191del(2)|p.A189_P190>X(2)|p.K164_P219del(1)|p.P58fs*>33(1)|p.P190P(1)|p.P191fs*18(1)|p.A189S(1)|p.P190fs*19(1)|p.A189fs*19(1)|p.A189fs*58(1)|p.A189D(1)|p.P97fs*57(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGCTGAGGAGGGGCCAGACC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				65			19		0	0	1	0	0
TMEM184B	25829	broad.mit.edu	37	22	38621520	38621520	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr22:38621520T>C	uc003avf.1	-	6	922	c.698A>G	c.(697-699)tAc>tGc	p.Y233C	TMEM184B_uc003avh.2_Missense_Mutation_p.Y167C|TMEM184B_uc003avg.2_Missense_Mutation_p.Y233C|TMEM184B_uc010gxl.2_Non-coding_Transcript|TMEM184B_uc021wpo.1_5'Flank	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	233						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GGTGGCGAAGTAGAAGAGGAA	0.582000														92			11		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52686431	52686431	+	Silent	SNP	T	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr13:52686431T>C	uc001vge.3	-	4	425	c.285A>G	c.(283-285)caA>caG	p.Q95Q		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	95	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ACACACCCCGTTGTCTATTGA	0.348000														112			4		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186689203	186689203	+	Silent	SNP	A	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:186689203A>G	uc002upl.3	+	19	20736	c.20736A>G	c.(20734-20736)ttA>ttG	p.L6912L	FSIP2_uc002upm.3_Non-coding_Transcript	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTAAAATATTAGAAGGTTGGA	0.289000														122			22		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	C	C	rs121912666		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				64			3		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130219622	130219622	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:130219622G>T	uc004evz.3	+	7	1361	c.1016G>T	c.(1015-1017)tGc>tTc	p.C339F	ARHGAP36_uc004ewa.3_Missense_Mutation_p.C327F|ARHGAP36_uc004ewb.3_Missense_Mutation_p.C308F|ARHGAP36_uc004ewc.3_Missense_Mutation_p.C203F	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	339	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.C339Y(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATGCCACCCTGCCACAGTGAT	0.512000														71			4		0.00909568	0.00909568	1	1	0
LILRA4	23547	broad.mit.edu	37	19	54848817	54848817	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:54848817C>T	uc002qfj.3	-	4	863	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	LILRA4_uc002qfi.3_Missense_Mutation_p.R203Q	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	269	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTGGGGCTGCCGGCCAGGGCG	0.652000														67			3		0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109731772	109731772	+	Missense_Mutation	SNP	C	T	T	rs143784237		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:109731772C>T	uc021orb.1	+	9	1525	c.1304C>T	c.(1303-1305)aCg>aTg	p.T435M	KIAA1324_uc009wex.2_Missense_Mutation_p.T385M|KIAA1324_uc010ovg.2_Missense_Mutation_p.T333M|KIAA1324_uc009wey.3_Missense_Mutation_p.T348M|KIAA1324_uc001dwr.3_Missense_Mutation_p.T85M	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	435					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AACATGGAAACGACCGTTCTC	0.537000														59			11		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129899864	129899864	+	Silent	SNP	T	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr10:129899864T>C	uc001lke.3	-	13	9558	c.9363A>G	c.(9361-9363)gaA>gaG	p.E3121E	MKI67_uc001lkf.3_Silent_p.E2761E	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	3121					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGGCTTCTTTTCATTTCTGT	0.433000														153			4		0	0	1	0	0
IL28RA	163702	broad.mit.edu	37	1	24484160	24484160	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:24484160C>A	uc001bis.3	-	6	1050	c.1023G>T	c.(1021-1023)caG>caT	p.Q341H	IL28RA_uc001bir.3_Missense_Mutation_p.Q312H|IL28RA_uc001bit.3_3'UTR|IL28RA_uc001biu.3_Missense_Mutation_p.Q257H	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	341					cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|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;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		CAATGTAGGGCTGGAAGCTGA	0.612000														49			20		2.89027e-11	3.14529e-11	1	1	0
POLR1D	51082	broad.mit.edu	37	13	28197257	28197257	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr13:28197257C>T	uc001uro.3	+	1	477	c.272C>T	c.(271-273)cCa>cTa	p.P91L	LNX2_uc001url.4_5'Flank|LNX2_uc001urm.1_5'Flank|POLR1D_uc010aam.3_Intron|POLR1D_uc001urp.3_Intron|POLR1D_uc001urq.3_Intron	NM_015972	NP_057056	Q9Y2S0	RPAC2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide D, 16kDa (POLR1D), transcript variant 1, mRNA.	91					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		GGTACCCTTCCAGCTGTTGAG	0.443000														119			5		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54394940	54394940	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:54394940G>A	uc002qcq.1	+	5	824	c.542G>A	c.(541-543)cGt>cAt	p.R181H	PRKCG_uc010eqz.1_Missense_Mutation_p.R181H|PRKCG_uc010yef.1_Missense_Mutation_p.R181H|PRKCG_uc010yeg.1_Missense_Mutation_p.R181H|PRKCG_uc010yeh.1_Missense_Mutation_p.R68H|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	181	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGCGAGGCCCGTAACCTAATT	0.542000														146			20		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100353594	100353594	+	Silent	SNP	A	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:100353594A>G	uc001dsi.1	+	20	3142	c.2742A>G	c.(2740-2742)gaA>gaG	p.E914E	AGL_uc001dsj.1_Silent_p.E914E|AGL_uc001dsk.1_Silent_p.E914E|AGL_uc001dsl.1_Silent_p.E914E|AGL_uc001dsm.1_Silent_p.E898E|AGL_uc001dsn.1_Silent_p.E897E	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	914					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTGAATCAGAAGAAAAGGAAG	0.393000														45			4		0	0	1	0	0
PIAS2	9063	broad.mit.edu	37	18	44409771	44409771	+	Missense_Mutation	SNP	T	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr18:44409771T>A	uc002lck.3	-	9	1449	c.1262A>T	c.(1261-1263)gAt>gTt	p.D421V	PIAS2_uc010dnp.3_Missense_Mutation_p.D119V|PIAS2_uc010xda.2_Missense_Mutation_p.D119V|PIAS2_uc002lcl.3_Missense_Mutation_p.D421V|PIAS2_uc002lcm.3_Missense_Mutation_p.D421V	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	421					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CCAAGAACCATCTTCTTGGAA	0.363000														172			138		0	0	1	0	0
PTRH2	51651	broad.mit.edu	37	17	57775085	57775085	+	Silent	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:57775085C>T	uc002ixt.3	-	1	380	c.255G>A	c.(253-255)caG>caA	p.Q85Q	PTRH2_uc002ixs.3_Non-coding_Transcript	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN	Homo sapiens peptidyl-tRNA hydrolase 2 (PTRH2), nuclear gene encoding mitochondrial protein, mRNA.	85					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CATGAGAGCACTGGGCAGCCA	0.473000														149			5		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138698453	138698453	+	Silent	SNP	A	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:138698453A>G	uc011mwn.1	-	11	1620	c.1614T>C	c.(1612-1614)tcT>tcC	p.S538S	MCF2_uc004fav.3_Silent_p.S393S|MCF2_uc004fau.3_Silent_p.S393S|MCF2_uc010nsh.2_Silent_p.S393S|MCF2_uc011mwm.2_Silent_p.S354S|MCF2_uc011mwl.2_Silent_p.S354S|MCF2_uc011mwo.1_Silent_p.S453S|MCF2_uc004faw.2_Silent_p.S453S	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	393	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TAAGCTCAGGAGATAATATTA	0.318000														165			5		0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31779681	31779681	+	Silent	SNP	G	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:31779681G>A	uc001zfq.3	-	8	1332	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	OTUD7A_uc001zfr.3_Silent_p.D420D	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	413	Catalytic (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TATCGTTGTCGTCTTTCCCCC	0.612000														126			4		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637594	248637594	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:248637594A>G	uc001iel.1	+	0	943	c.943A>G	c.(943-945)Aac>Gac	p.N315D		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCAAGAATGAACCAAGAAAA	0.488000														454			5		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294671	124294671	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:124294671C>T	uc010sak.2	-	0	97	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACATAGATCCCTAAGAATAGA	0.453000														84			3		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55544911	55544911	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:55544911G>T	uc002ryv.2	-	19	4230	c.3388C>A	c.(3388-3390)Cag>Aag	p.Q1130K	CCDC88A_uc010ypa.1_Missense_Mutation_p.Q1130K|CCDC88A_uc010yoz.1_Missense_Mutation_p.Q1131K|CCDC88A_uc002ryu.2_Missense_Mutation_p.Q413K|CCDC88A_uc002rys.3_Missense_Mutation_p.Q116K|CCDC88A_uc002ryw.3_Missense_Mutation_p.Q414K|CCDC88A_uc010fby.1_Missense_Mutation_p.Q10K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1131					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GAAGACTGCTGGATTAGGAGT	0.353000														71			3		0.00024832	0.000258812	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36340211	36340211	+	Missense_Mutation	SNP	C	T	T	rs149649169		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:36340211C>T	uc002oby.3	-	6	923	c.767G>A	c.(766-768)cGg>cAg	p.R256Q		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	256	Ig-like C2-type 3.		R -> W (in NPHS1).		cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	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)			CTGTCCTGCCCGCACGTGCCC	0.642000														42			4		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86808005	86808005	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:86808005G>A	uc002blz.1	+	9	1545	c.1465G>A	c.(1465-1467)Gtc>Atc	p.V489I	AGBL1_uc002bma.1_Missense_Mutation_p.V220I|AGBL1_uc002bmb.1_Missense_Mutation_p.V183I	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	489					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATTTCCTGATGTCTGGGGACA	0.502000														121			10		0	0	1	0	0
PPAT	5471	broad.mit.edu	37	4	57265347	57265347	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:57265347C>G	uc003hbr.3	-	8	1393	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q		NM_002703	NP_002694	Q06203	PUR1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate amidotransferase (PPAT), mRNA.	412					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TTACTTACCTCTTTTGCACCA	0.313000														220			6		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124005629	124005629	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:124005629G>A	uc001pzu.3	+	11	1456	c.1247G>A	c.(1246-1248)tGt>tAt	p.C416Y	VWA5A_uc001pzt.3_Missense_Mutation_p.C416Y	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	416	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AATTGCAGGTGTTTCTCATTT	0.408000														98			4		0	0	1	0	0
VN1R10P	387316	broad.mit.edu	37	6	27293740	27293740	+	Splice_Site	DEL	A	-	-	rs66584898		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr6:27293740delA	uc010jqt.3	+	1	1202	c.680_splice	c.e1+1			NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		accctgtctgaaaaaaaaaaa	0.358													---	4	---	---	3	---					
UBR5	51366	broad.mit.edu	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:103289349delT	uc003ykr.2	-	44	6815	c.6360delA	c.(6358-6360)aaafs	p.K2120fs	UBR5_uc003yks.2_Frame_Shift_Del_p.K2120fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2120					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCCCCTTCTTTTTTTTGCC	0.378													---	160	---	---	8	---					
DNHD1	144132	broad.mit.edu	37	11	6566233	6566234	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:6566233_6566234insC	uc001mdw.4	+	20	4628_4629	c.4064_4065insC	c.(4063-4065)cacfs	p.H1355fs	DNHD1_uc001mds.1_Frame_Shift_Ins_p.H65fs	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	1355					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGTGTGCTCACTTCCCCCGCC	0.579													---	256	---	---	7	---					
TMEM86A	144110	broad.mit.edu	37	11	18723333	18723334	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:18723333_18723334insG	uc001moz.1	+	2	583_584	c.500_501insG	c.(499-501)ctgfs	p.L167fs		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	Homo sapiens transmembrane protein 86A (TMEM86A), mRNA.	167						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GGGCTGCGGCTGGCCGGGGCAG	0.594													---	130	---	---	8	---					
GNPNAT1	64841	broad.mit.edu	37	14	53250171	53250172	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr14:53250171_53250172delTC	uc001xab.3	-	2	441_442	c.186_187delGA	c.(184-189)gagactfs	p.E62fs		NM_198066	NP_932332	Q96EK6	GNA1_HUMAN	Homo sapiens glucosamine-phosphate N-acetyltransferase 1 (GNPNAT1), mRNA.	62	N-acetyltransferase.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|cytosol|endosome membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					ACAACTCCAGTCTCTGTTAGCT	0.327													---	551	---	---	8	---					
AHSA1	10598	broad.mit.edu	37	14	77926107	77926111	+	Frame_Shift_Del	DEL	CTTAT	-	-			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr14:77926107_77926111delCTTAT	uc001xtw.3	+	1	389_393	c.229_233delCTTAT	c.(229-234)cttatcfs	p.L77fs	C14orf133_uc001xtt.2_5'Flank|C14orf133_uc001xtu.2_5'Flank|C14orf133_uc001xtv.2_5'Flank|C14orf133_uc021rwu.1_5'Flank|C14orf133_uc010tvj.2_5'Flank|AHSA1_uc010tvk.1_Frame_Shift_Del_p.L77fs	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) (AHSA1), mRNA.	77					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAAAGGGAAACTTATCTTCTTTTAT	0.429													---	148	---	---	7	---					
RCN3	57333	broad.mit.edu	37	19	50031830	50031830	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:50031830delT	uc002poj.3	+	1	548	c.101delT	c.(100-102)gtgfs	p.V34fs		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	Homo sapiens reticulocalbin 3, EF-hand calcium binding domain (RCN3), mRNA.	34						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CAGGGGAGGGTGCACCAGGCG	0.642													---	90	---	---	13	---					
