Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BPIFC	254240	broad.mit.edu	37	22	32841663	32841663	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr22:32841663C>T	ENST00000397452.1	-	6	663	c.553G>A	c.(553-555)Gag>Aag	p.E185K	BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.E185K			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	185						extracellular region	lipopolysaccharide binding|phospholipid binding										TCCATGGGCTCAGCAAAGGAG	0.338000													22	117					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23371025	23371025	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:23371025G>A	ENST00000359890.3	-	13	1509	c.1314C>T	c.(1312-1314)acC>acT	p.T438T	RBM23_ENST00000555209.1_Silent_p.T188T|RBM23_ENST00000346528.5_Silent_p.T404T|RBM23_ENST00000399922.2_Silent_p.T422T|RBM23_ENST00000542016.2_Silent_p.T268T	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	438					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		AGACTCACATGGTCTGGGGGG	0.498000													26	83					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935229	151935229	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chrX:151935229T>A	ENST00000393902.3	-	3	1505	c.938A>T	c.(937-939)gAa>gTa	p.E313V	MAGEA3_ENST00000370278.3_Missense_Mutation_p.E313V			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	313										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GACTCACTCTTCCCCCTCTCT	0.572000													50	26					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205898416	205898416	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:205898416G>A	ENST00000367135.3	-	7	899	c.786C>T	c.(784-786)agC>agT	p.S262S	SLC26A9_ENST00000340781.4_Silent_p.S262S|SLC26A9_ENST00000367134.2_Silent_p.S262S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	262						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGAAGGCACCGCTGATGAGAG	0.527000													13	75					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100509502	100509502	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chrX:100509502G>A	ENST00000395209.3	+	18	2593	c.2066G>A	c.(2065-2067)cGa>cAa	p.R689Q	DRP2_ENST00000541709.1_Missense_Mutation_p.R611Q|DRP2_ENST00000402866.1_Missense_Mutation_p.R689Q|DRP2_ENST00000538510.1_Missense_Mutation_p.R689Q	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	689					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CACCCTCAGCGAGGTTATCTG	0.532000													6	13					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17292234	17292234	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:17292234C>T	ENST00000375541.5	+	28	4491	c.4422C>T	c.(4420-4422)ctC>ctT	p.L1474L		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1474					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGGAAGGGCTCAACAGCCCCA	0.612000													14	58					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247737658	247737658	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:247737658G>T	ENST00000366491.2	+	7	819	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	GCSAML_ENST00000366488.4_Missense_Mutation_p.D128Y|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000463359.1_Missense_Mutation_p.D96Y|GCSAML_ENST00000527084.1_Missense_Mutation_p.D96Y|GCSAML_ENST00000536561.1_Missense_Mutation_p.D108Y|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527541.1_Missense_Mutation_p.D96Y|GCSAML_ENST00000366489.1_Missense_Mutation_p.D108Y	NM_001281834.1	NP_001268763.1			germinal center-associated, signaling and motility-like																		CCATGAGCATGATTATGAAGT	0.438000													30	38					4.11147e-13	4.44929e-13	1	1	0
ETV5	2119	broad.mit.edu	37	3	185775019	185775019	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:185775019C>G	ENST00000306376.5	-	11	1300	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	ETV5_ENST00000434744.1_Missense_Mutation_p.E352Q|ETV5_ENST00000537818.1_Missense_Mutation_p.E394Q|ETV5_ENST00000480706.1_5'UTR	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	352					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATGGTAGGCTCCTGTTTGACT	0.512000			T	"""TMPRSS2, SCL45A3"""	Prostate								18	114					0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804680	43804680	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr20:43804680G>C	ENST00000243924.3	+	2	305	c.258G>C	c.(256-258)ttG>ttC	p.L86F		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	86	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GCGCCATGTTGAATCCCCCTA	0.522000													16	67					0	0	1	0	0
RAB9B	51209	broad.mit.edu	37	X	103080409	103080409	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chrX:103080409C>T	ENST00000243298.2	-	3	590	c.306G>A	c.(304-306)caG>caA	p.Q102Q		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	102					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						TAAATTCTTTCTGCCAGTTAC	0.483000													37	54					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86824018	86824018	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:86824018A>G	ENST00000414194.2	+	17	3041	c.1249A>G	c.(1249-1251)Ata>Gta	p.I417V	DMTF1_ENST00000331242.7_Missense_Mutation_p.I683V|DMTF1_ENST00000394703.5_Missense_Mutation_p.I683V|DMTF1_ENST00000413276.2_Missense_Mutation_p.I613V|DMTF1_ENST00000432937.2_Missense_Mutation_p.I595V			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	683	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GTCTCCCACTATAGAAGAACA	0.318000													29	49					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2740764	2740764	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr18:2740764C>G	ENST00000320876.6	+	28	3916	c.3578C>G	c.(3577-3579)tCt>tGt	p.S1193C	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1193C	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1193					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCTTTATCTTCTTTGTCAATT	0.308000													25	48					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121776413	121776413	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:121776413C>A	ENST00000261367.7	+	9	2955	c.1527C>A	c.(1525-1527)caC>caA	p.H509Q	CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.H96Q|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.H20Q|SNCAIP_ENST00000414317.2_Missense_Mutation_p.H64Q|SNCAIP_ENST00000379533.2_Missense_Mutation_p.H509Q|SNCAIP_ENST00000261368.8_Missense_Mutation_p.H462Q|SNCAIP_ENST00000503116.2_Missense_Mutation_p.H509Q|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.H402Q|CTC-210G5.1_ENST00000503529.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	462					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTGCCGTTCACGTAGCCTCAC	0.418000													11	30					2.68362e-12	2.89252e-12	1	1	0
NAV3	89795	broad.mit.edu	37	12	78444904	78444904	+	Silent	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:78444904C>G	ENST00000397909.2	+	11	2666	c.2493C>G	c.(2491-2493)ctC>ctG	p.L831L	NAV3_ENST00000228327.6_Silent_p.L831L|NAV3_ENST00000536525.2_Silent_p.L831L|NAV3_ENST00000266692.7_Silent_p.L831L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	831						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGAAAAGTCTCAGGACTGATG	0.443000										HNSCC(70;0.22)			10	31					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410637	105410637	+	Silent	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:105410637G>C	ENST00000333244.5	-	7	11270	c.11151C>G	c.(11149-11151)ctC>ctG	p.L3717L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3717						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTGCTCTTTGAGGCCGGCTC	0.627000													32	142					0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76882401	76882401	+	Silent	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:76882401G>C	ENST00000356260.5	-	15	1360	c.1242C>G	c.(1240-1242)ctC>ctG	p.L414L	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Silent_p.L377L	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	414					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCAGGTCTTGGAGAAGTTCTT	0.398000													26	71					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145525087	145525087	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:145525087C>G	ENST00000369304.3	+	1	197	c.22C>G	c.(22-24)Cac>Gac	p.H8D	ITGA10_ENST00000538811.1_5'UTR|ITGA10_ENST00000539363.1_Missense_Mutation_p.H8D	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	8					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTCGTCACTCACCTGTTCTT	0.493000											OREG0013749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	62					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64415153	64415153	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr10:64415153G>A	ENST00000395251.1	+	4	487	c.153G>A	c.(151-153)atG>atA	p.M51I	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	51								p.M51I(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGCCACTGATGAAACAGGCTC	0.478000													20	47					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110882508	110882508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:110882508C>T	ENST00000369784.3	+	1	1381	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	RBM15_ENST00000487146.2_Missense_Mutation_p.P161S|RBM15_ENST00000602849.1_Missense_Mutation_p.P161S	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	161	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTCCTCAGCTCCCGGCGGCGG	0.647000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	51					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296334	20296334	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:20296334C>A	ENST00000315947.1	+	1	727	c.727C>A	c.(727-729)Cat>Aat	p.H243N	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGCATCACCCATATCATTGT	0.498000													24	86					2.21704e-12	2.3944e-12	1	1	0
UTP14A	10813	broad.mit.edu	37	X	129055395	129055395	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chrX:129055395G>A	ENST00000394422.3	+	11	1208	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	UTP14A_ENST00000425117.2_Missense_Mutation_p.E342K|UTP14A_ENST00000371051.5_Missense_Mutation_p.E340K|UTP14A_ENST00000371042.3_Missense_Mutation_p.E226K|UTP14A_ENST00000498179.1_3'UTR|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	394					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GGAGGACCCTGAGCAACTGCC	0.502000													8	15					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656		TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CCGGTTCATGCCGCCCATGCA	0.582000		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)			10	24					4.36969e-10	4.64495e-10	1	1	0
HYDIN	54768	broad.mit.edu	37	16	70935074	70935074	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:70935074C>A	ENST00000393567.2	-	53	9031	c.8881G>T	c.(8881-8883)Gtc>Ttc	p.V2961F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2961										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGAGCGTGACATTGCGGAGA	0.478000													4	43					0.00909568	0.00919788	1	1	0
HMOX1	3162	broad.mit.edu	37	22	35779148	35779148	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr22:35779148C>G	ENST00000216117.8	+	2	412	c.73C>G	c.(73-75)Cac>Gac	p.H25D		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	25					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	CAAGGAGGTGCACACCCAGGC	0.582000													9	55					0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105239387	105239387	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:105239387C>A	ENST00000554581.1	-	10	2480	c.1000G>T	c.(1000-1002)Ggg>Tgg	p.G334W	AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000554192.1_Intron|AKT1_ENST00000349310.3_Missense_Mutation_p.G334W|AKT1_ENST00000402615.2_Missense_Mutation_p.G334W|AKT1_ENST00000554848.1_Missense_Mutation_p.G334W|AKT1_ENST00000407796.2_Missense_Mutation_p.G334W|AKT1_ENST00000544168.1_Missense_Mutation_p.G272W|AKT1_ENST00000555528.1_Missense_Mutation_p.G334W|AKT1_ENST00000555458.1_Missense_Mutation_p.G29W			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	334	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	ACGCCCAGCCCCCACCAGTCC	0.612000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								10	43					0.000978159	0.00100229	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129475753	129475753	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:129475753C>T	ENST00000421865.2	+	8	1180	c.1131C>T	c.(1129-1131)gtC>gtT	p.V377V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	377	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGGGGGTGTCTGCATTAATT	0.388000													14	37					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	169580	169580	+	Missense_Mutation	SNP	G	G	A	rs148185735		TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:169580G>A	ENST00000283426.6	+	12	2584	c.2534G>A	c.(2533-2535)cGa>cAa	p.R845Q		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	845	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGGGCCTTCGAGGGAAGCAC	0.542000													52	121					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41025353	41025353	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:41025353G>A	ENST00000352632.3	+	16	3035	c.2949G>A	c.(2947-2949)atG>atA	p.M983I	SPTBN4_ENST00000595535.1_Missense_Mutation_p.M983I|SPTBN4_ENST00000344104.3_Missense_Mutation_p.M983I|SPTBN4_ENST00000338932.3_Missense_Mutation_p.M983I|SPTBN4_ENST00000598249.1_Missense_Mutation_p.M983I			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	983					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAGAGGAAATGAGCGCGGTGC	0.662000													9	45					0	0	1	0	0
GNPDA1	10007	broad.mit.edu	37	5	141382666	141382666	+	Silent	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:141382666G>T	ENST00000508177.1	-	5	1514	c.756C>A	c.(754-756)gtC>gtA	p.V252V	GNPDA1_ENST00000311337.6_Silent_p.V252V|GNPDA1_ENST00000513454.1_Silent_p.V252V|GNPDA1_ENST00000503794.1_Silent_p.V252V|GNPDA1_ENST00000500692.2_Silent_p.V252V|GNPDA1_ENST00000458112.2_Silent_p.V218V|GNPDA1_ENST00000542860.1_Silent_p.V175V			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	252					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAATACTTGACAGTCTTCA	0.537000													14	19					0.000566183	0.000581253	1	1	0
GART	2618	broad.mit.edu	37	21	34889799	34889799	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr21:34889799C>T	ENST00000381831.3	-	15	2082	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	GART_ENST00000381815.4_Missense_Mutation_p.E607K|GART_ENST00000381839.3_Missense_Mutation_p.E607K|GART_ENST00000543717.1_Missense_Mutation_p.E159K	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	607	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACATCACCCTCAGTGATTCTT	0.483000													33	85					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1647243	1647243	+	Silent	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:1647243C>A	ENST00000252804.4	-	19	3899	c.3849G>T	c.(3847-3849)cgG>cgT	p.R1283R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1283					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGCTCTGCACCCGGGTGATGT	0.632000													77	54					4.38691e-48	4.85437e-48	1	1	0
EXOC7	23265	broad.mit.edu	37	17	74090621	74090621	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:74090621C>T	ENST00000607838.1	-	6	776	c.682G>A	c.(682-684)Gac>Aac	p.D228N	EXOC7_ENST00000589210.1_Missense_Mutation_p.D228N|EXOC7_ENST00000335146.7_Missense_Mutation_p.D228N|EXOC7_ENST00000332065.5_Missense_Mutation_p.D228N|EXOC7_ENST00000405575.4_Missense_Mutation_p.D228N|EXOC7_ENST00000467929.2_Missense_Mutation_p.D187N|EXOC7_ENST00000411744.2_Missense_Mutation_p.D228N	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	228					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			ATGGAGCGGTCCAGCTGGCTG	0.542000													21	48					0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857568	101857568	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chrX:101857568G>A	ENST00000604957.1	+	1	3121	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	ARMCX5_ENST00000536530.1_Missense_Mutation_p.E167K|ARMCX5_ENST00000372742.1_Missense_Mutation_p.E167K|ARMCX5_ENST00000537008.1_Missense_Mutation_p.E167K|RP4-769N13.6_ENST00000476910.2_RNA|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.E167K|ARMCX5_ENST00000246174.2_Missense_Mutation_p.E167K	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	167							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TGATGAGGATGAAGAAAATAT	0.473000													25	57					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030774	3030774	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:3030774C>G	ENST00000328890.2	-	1	101	c.72G>C	c.(70-72)caG>caC	p.Q24H		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						AGAGGGGCTTCTGCTCCTCCA	0.488000													8	34					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67916349	67916349	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:67916349C>T	ENST00000358933.5	+	25	3533	c.3294C>T	c.(3292-3294)atC>atT	p.I1098I		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1098					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGATGCCATCGCCCGAGCAG	0.617000													16	49					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158619708	158619708	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:158619708C>G	ENST00000368147.4	-	25	3687	c.3507G>C	c.(3505-3507)caG>caC	p.Q1169H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGCAAGCCTCTGCAAAGAAC	0.458000													11	39					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	193049177	193049177	+	Silent	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:193049177G>T	ENST00000409056.3	-	3	314	c.315C>A	c.(313-315)tcC>tcA	p.S105S	TMEFF2_ENST00000272771.5_Silent_p.S105S|TMEFF2_ENST00000392314.1_Silent_p.S105S			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	105	Kazal-like 1.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TCTCCCCATTGGAGCCACACA	0.483000													7	41					0.000442599	0.000455245	1	1	0
ASTN1	460	broad.mit.edu	37	1	177030361	177030361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:177030361C>T	ENST00000367654.3	-	2	535	c.324G>A	c.(322-324)tgG>tgA	p.W108*	ASTN1_ENST00000361833.2_Nonsense_Mutation_p.W108*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.W108*|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.W108*	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACTGCTGCCTCCAGCGCACCA	0.498000													33	116					0	0	1	0	0
MTFR1	9650	broad.mit.edu	37	8	66619462	66619462	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:66619462G>A	ENST00000262146.4	+	6	861	c.735G>A	c.(733-735)atG>atA	p.M245I	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.M212I	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	245						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TTAAAGAGATGAACAGTGTAA	0.388000													14	43					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370491	17370491	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:17370491G>A	ENST00000252597.3	-	6	992	c.819C>T	c.(817-819)tcC>tcT	p.S273S	USHBP1_ENST00000431146.2_Silent_p.S209S	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	273							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TCTGGGTGCTGGAATGGCTGC	0.572000													21	102					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15822338	15822338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:15822338G>A	ENST00000281172.5	-	6	935	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	EPS8_ENST00000543523.1_Nonsense_Mutation_p.Q167*|EPS8_ENST00000543612.1_Nonsense_Mutation_p.Q167*	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	167					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TCATCACACTGGAAGAGATGA	0.403000													11	28					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216692536	216692536	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:216692536C>G	ENST00000391890.3	-	8	1559	c.1042G>C	c.(1042-1044)Gaa>Caa	p.E348Q	ESRRG_ENST00000359162.2_Missense_Mutation_p.E341Q|ESRRG_ENST00000366937.1_Missense_Mutation_p.E376Q|ESRRG_ENST00000360012.3_Missense_Mutation_p.E341Q|ESRRG_ENST00000408911.3_Missense_Mutation_p.E364Q|ESRRG_ENST00000493603.1_Missense_Mutation_p.E341Q|ESRRG_ENST00000361525.3_Missense_Mutation_p.E341Q|ESRRG_ENST00000463665.1_Missense_Mutation_p.E302Q|ESRRG_ENST00000366938.2_Missense_Mutation_p.E341Q|ESRRG_ENST00000366940.2_Missense_Mutation_p.E341Q|ESRRG_ENST00000361395.2_Missense_Mutation_p.E341Q|ESRRG_ENST00000493748.1_Missense_Mutation_p.E341Q|ESRRG_ENST00000487276.1_Missense_Mutation_p.E341Q	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	364					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ACAAATTCTTCTTTTTCCAGC	0.373000													18	41					0	0	1	0	0
CWC27	10283	broad.mit.edu	37	5	64267581	64267581	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:64267581A>G	ENST00000381070.3	+	12	1311	c.1094A>G	c.(1093-1095)cAa>cGa	p.Q365R	CWC27_ENST00000545000.1_3'UTR	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	365					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGAGAAAAGCAAAAGTATGAA	0.388000													14	16					0	0	1	0	0
PGLS	25796	broad.mit.edu	37	19	17628174	17628174	+	Silent	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:17628174C>G	ENST00000252603.2	+	3	518	c.474C>G	c.(472-474)ctC>ctG	p.L158L		NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	158						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						CCTGCTCACTCTTCCCAGACC	0.627000													19	78					0	0	1	0	0
FICD	11153	broad.mit.edu	37	12	108910839	108910839	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:108910839G>A	ENST00000552695.1	+	2	325	c.90G>A	c.(88-90)ctG>ctA	p.L30L	FICD_ENST00000552758.1_Silent_p.L30L|FICD_ENST00000361549.2_Silent_p.L30L	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	30					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						TGACGCTGCTGAGCATGGTGC	0.617000													7	32					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998576	112998576	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:112998576G>A	ENST00000271277.6	+	6	687	c.462G>A	c.(460-462)gtG>gtA	p.V154V		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	154						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATCCCAAGTGAAAAAGTTTG	0.418000													5	43					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37879433	37879433	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:37879433G>C	ENST00000436120.2	+	5	589	c.482G>C	c.(481-483)aGa>aCa	p.R161T	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGGGAAAAGAGACAATGAA	0.383000													13	58					0	0	1	0	0
NME6	10201	broad.mit.edu	37	3	48337638	48337638	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:48337638G>C	ENST00000421967.1	-	4	273	c.228C>G	c.(226-228)ttC>ttG	p.F76L	NME6_ENST00000447314.1_Missense_Mutation_p.F23L|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000444069.1_Intron|NME6_ENST00000435684.1_Intron|NME6_ENST00000452211.1_Missense_Mutation_p.F68L|NME6_ENST00000442597.1_Missense_Mutation_p.F68L|NME6_ENST00000450160.1_Intron|NME6_ENST00000426689.2_Missense_Mutation_p.F68L|NME6_ENST00000426723.1_Intron|NME6_ENST00000415644.1_Intron|NME6_ENST00000451657.1_Intron|NME6_ENST00000415053.1_Missense_Mutation_p.F68L	NM_005793.3	NP_005784.1	O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	68					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCCTCTGATAGAAAAAACGCC	0.453000													15	14					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56722090	56722090	+	Missense_Mutation	SNP	G	G	C	rs7310592		TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:56722090G>C	ENST00000425394.2	-	4	881	c.505C>G	c.(505-507)Cta>Gta	p.L169V	PAN2_ENST00000440411.3_Missense_Mutation_p.L169V|PAN2_ENST00000257931.5_Missense_Mutation_p.L169V|PAN2_ENST00000548043.1_Missense_Mutation_p.L169V	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	169					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCAACGAGTAGAGTGCTGCTG	0.512000													24	74					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40778196	40778196	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:40778196C>G	ENST00000381782.2	+	7	1451	c.956C>G	c.(955-957)tCa>tGa	p.S319*	NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Nonsense_Mutation_p.S319*	NM_024677.4	NP_078953			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AATAATACCTCAAAAGTATTT	0.323000													8	43					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554798	150554798	+	Silent	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:150554798C>A	ENST00000493429.1	+	4	1824	c.1240C>A	c.(1240-1242)Cga>Aga	p.R414R	AOC1_ENST00000467291.1_Silent_p.R414R|AOC1_ENST00000360937.4_Silent_p.R414R|AOC1_ENST00000416793.2_Silent_p.R414R					amine oxidase, copper containing 1																		CCATTATCCCCGAGCCCTCTG	0.572000													21	45					1.96292e-10	2.09482e-10	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37744409	37744409	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:37744409G>C	ENST00000539465.1	+	16	2973	c.2380G>C	c.(2380-2382)Gaa>Caa	p.E794Q	FRMPD1_ENST00000377765.3_Missense_Mutation_p.E794Q|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	794						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTCTACTGCAGAACCCAGTGC	0.507000													28	79					0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99861893	99861893	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:99861893C>G	ENST00000409679.1	-	4	357	c.213G>C	c.(211-213)gaG>gaC	p.E71D	LYG2_ENST00000423800.1_Missense_Mutation_p.E71D|LYG2_ENST00000333017.2_Missense_Mutation_p.E71D|LYG2_ENST00000409238.1_Missense_Mutation_p.E71D			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	71					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TCAAATCCATCTCAGCAAACA	0.493000													12	66					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63069040	63069040	+	Silent	SNP	G	G	A	rs146956888	byFrequency	TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:63069040G>A	ENST00000561311.1	+	42	5675	c.5445G>A	c.(5443-5445)ctG>ctA	p.L1815L	TLN2_ENST00000306829.6_Silent_p.L1815L|TLN2_ENST00000472902.1_Silent_p.L208L			Q9Y4G6	TLN2_HUMAN	talin 2	1815					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGTGACGCTGAACGAAGCTG	0.572000													6	26					0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58352336	58352336	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:58352336G>C	ENST00000316059.6	+	2	520	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E117Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	117					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAGATGCATAGAAAAAGTAAC	0.313000													7	63					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31983271	31983271	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:31983271G>C	ENST00000438447.1	+	3	875	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	PDZD2_ENST00000282493.3_Missense_Mutation_p.E163Q			O15018	PDZD2_HUMAN	PDZ domain containing 2	163	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTACCTGGCTGAGCAGTGCTG	0.527000													18	68					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91421998	91421998	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:91421998G>A	ENST00000268171.3	+	9	1124	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	282					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCACAGGGCCGAGGGGGGCTG	0.617000													4	15					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359424	66359424	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:66359424C>T	ENST00000333861.3	-	1	1130	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	355										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TTCAGATCCTCAGCCACGATG	0.582000													8	23					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67800446	67800446	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr13:67800446C>T	ENST00000544246.1	-	2	2818	c.2127G>A	c.(2125-2127)atG>atA	p.M709I	PCDH9_ENST00000328454.5_Missense_Mutation_p.M709I|PCDH9_ENST00000377861.3_Missense_Mutation_p.M709I|PCDH9_ENST00000456367.1_Missense_Mutation_p.M709I|PCDH9_ENST00000377865.2_Missense_Mutation_p.M709I	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	709	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTTCAGCGTTCATTCCAGTGT	0.433000													12	107					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202894178	202894178	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:202894178C>G	ENST00000367261.3	-	2	331	c.113G>C	c.(112-114)aGa>aCa	p.R38T	KLHL12_ENST00000435533.3_Missense_Mutation_p.R76T	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	38	BTB.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTGCTCTACTCTCAATGTCAC	0.453000													17	44					0	0	1	0	0
NBPF12	149013	broad.mit.edu	37	1	146399590	146399590	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:146399590G>C	ENST00000442909.2	+	8	1365	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	NBPF12_ENST00000309471.8_Missense_Mutation_p.E102Q|NBPF12_ENST00000446760.2_Missense_Mutation_p.E177Q					neuroblastoma breakpoint family, member 12											ovary(2)	2						TGTTCAAGTTGAGGAGGATGA	0.403000													25	320					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78187749	78187749	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:78187749G>A	ENST00000370793.1	-	14	1961	c.1615C>T	c.(1615-1617)Cca>Tca	p.P539S	USP33_ENST00000357428.1_Missense_Mutation_p.P539S|USP33_ENST00000370794.3_Missense_Mutation_p.P508S|USP33_ENST00000370792.3_Missense_Mutation_p.P539S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	539					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CACCCTTGTGGAGCATATGCT	0.408000													15	105					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121466103	121466103	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:121466103G>T	ENST00000305949.1	+	5	487	c.442G>T	c.(442-444)Gca>Tca	p.A148S		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	148					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGAAGAAGCTGCAGAAAATTT	0.284000													38	46					5.78141e-17	6.31976e-17	1	1	0
MSH2	4436	broad.mit.edu	37	2	47703708	47703708	+	Silent	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:47703708C>G	ENST00000406134.1	+	13	2270	c.2208C>G	c.(2206-2208)ctC>ctG	p.L736L	MSH2_ENST00000233146.2_Silent_p.L736L|MSH2_ENST00000543555.1_Silent_p.L670L			P43246	MSH2_HUMAN	mutS homolog 2	736					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCTATCCTCAGGTAAGTGC	0.438000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				13	74					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134266193	134266193	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:134266193C>G	ENST00000337090.3	+	9	1119	c.946C>G	c.(946-948)Ctg>Gtg	p.L316V	CEP63_ENST00000606977.1_Missense_Mutation_p.L316V|CEP63_ENST00000513612.2_Missense_Mutation_p.L316V|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000383229.3_Missense_Mutation_p.L316V			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	316					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAAGAATCTCTGGCAGAAAA	0.453000													8	48					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30744638	30744638	+	Silent	SNP	C	C	G	rs145457424		TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:30744638C>G	ENST00000262518.4	+	28	6550	c.6165C>G	c.(6163-6165)ctC>ctG	p.L2055L	SRCAP_ENST00000395059.2_Silent_p.L1993L|SRCAP_ENST00000344771.4_Silent_p.L1897L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2055	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCGGCAGCTCAAGGCAGAGG	0.532000													15	58					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119947816	119947816	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:119947816G>A	ENST00000307142.4	+	3	488	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.E98K|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E98K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	98						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTTGATATCTGAAAATGAAAA	0.433000													25	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582846	179582846	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:179582846G>C	ENST00000589042.1	-	86	25111	c.24887C>G	c.(24886-24888)tCt>tGt	p.S8296C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S7979C|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7052C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7979	Ig-like 65.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATACCAAGAAATTCTAAT	0.383000													23	44					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72907212	72907212	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:72907212G>A	ENST00000339594.4	-	5	949	c.611C>T	c.(610-612)tCa>tTa	p.S204L	BAZ1B_ENST00000404251.1_Missense_Mutation_p.S204L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	204	Mediates the tyrosine-protein kinase activity.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTTTTTAATGAAGTAGGAAG	0.328000													8	58					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102155034	102155034	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:102155034C>G	ENST00000299314.7	-	15	3268	c.3006G>C	c.(3004-3006)atG>atC	p.M1002I		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1002					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GCACTGCACTCATGAGATAAT	0.408000													15	73					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31341697	31341697	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:31341697C>G	ENST00000544665.3	+	27	3203	c.3132C>G	c.(3130-3132)ttC>ttG	p.F1044L	ITGAM_ENST00000287497.8_Missense_Mutation_p.F1043L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1043					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.F1043L(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGAAGAATTCAATGCTACCC	0.582000													22	35					0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122341899	122341899	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:122341899G>A	ENST00000434824.1	-	1	1122	c.906C>T	c.(904-906)atC>atT	p.I302I	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_3'UTR|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	302						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AAGTTTTCAGGATGTCACACT	0.358000													12	63					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121207671	121207671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr10:121207671C>T	ENST00000392870.2	+	13	1632	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*	GRK5_ENST00000369108.3_Nonsense_Mutation_p.Q330*	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	435	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCTGGGCTGCCAGGAGGAGGG	0.602000													16	44					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65667514	65667514	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:65667514C>T	ENST00000327987.4	-	2	581	c.330G>A	c.(328-330)tcG>tcA	p.S110S		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	110	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACCTTCATCCGAAGGGCTGC	0.572000													10	29					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13378404	13378404	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:13378404G>A	ENST00000254508.5	-	27	3649	c.3567C>T	c.(3565-3567)gtC>gtT	p.V1189V	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1189					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGATGCCGGTGACATAGATGG	0.597000													15	50					0	0	1	0	0
TMEM190	147744	broad.mit.edu	37	19	55889536	55889536	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:55889536G>A	ENST00000291934.3	+	5	517	c.499G>A	c.(499-501)Ggt>Agt	p.G167S		NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	167	Poly-Glu.					integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		gacggaggagggtgaggagac	0.622000													32	34					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2275008	2275008	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:2275008C>T	ENST00000290974.2	-	10	2554	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	ZFYVE28_ENST00000508471.1_Missense_Mutation_p.D44N|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.D709N|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.D669N	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	739					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TGCAGCTGGTCAGCCACACCT	0.547000													11	48					0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11940693	11940693	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:11940693G>C	ENST00000571133.1	-	4	464	c.392C>G	c.(391-393)tCc>tGc	p.S131C	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	131					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						AGTTTGGAGGGAGATAATCTA	0.363000													17	94					0	0	1	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1893113	1893113	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:1893113C>T	ENST00000357103.4	+	7	1157	c.906C>T	c.(904-906)ttC>ttT	p.F302F		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	302					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			CGGAGGGGTTCCTTAAGGCCG	0.537000													14	53					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030815	3030815	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:3030815C>G	ENST00000328890.2	-	1	60	c.31G>C	c.(31-33)Gaa>Caa	p.E11Q		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						AGGAAACATTCTGAGATGCTG	0.498000													11	28					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130425601	130425601	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:130425601C>T	ENST00000373302.3	+	7	686	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	STXBP1_ENST00000373299.1_Silent_p.L183L	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	183					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TTGTGCCACCCTGAAGGAGTA	0.592000													43	18					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55146144	55146144	+	Silent	SNP	A	A	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:55146144A>G	ENST00000396331.1	+	11	1770	c.1413A>G	c.(1411-1413)ctA>ctG	p.L471L	LILRB1_ENST00000418536.2_Silent_p.L455L|LILRB1_ENST00000396327.3_Silent_p.L472L|LILRB1_ENST00000396332.4_Silent_p.L471L|LILRB1_ENST00000434867.2_Silent_p.L471L|LILRB1_ENST00000396317.1_Silent_p.L455L|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.L521L|LILRB1_ENST00000324602.7_Silent_p.L472L|LILRB1_ENST00000396321.2_Silent_p.L471L|LILRB1_ENST00000396315.1_Silent_p.L472L|LILRB1_ENST00000448689.1_Silent_p.L471L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	471					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCGTCAtcctactgctcctcc	0.582000										HNSCC(37;0.09)			24	33					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114274431	114274431	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:114274431G>A	ENST00000357077.4	+	38	4710	c.4657G>A	c.(4657-4659)Gaa>Aaa	p.E1553K	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1520K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1520					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAATCGTTGAAAGAGTTAA	0.463000													15	37					0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13729536	13729536	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:13729536C>G	ENST00000354817.3	+	4	599	c.455C>G	c.(454-456)tCa>tGa	p.S152*		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	152					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ATGCATGTATCAACAGCATAT	0.388000													26	52					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282166	152282166	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:152282166C>T	ENST00000368799.1	-	3	5231	c.5196G>A	c.(5194-5196)caG>caA	p.Q1732Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1732	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACACTGACTGTGTGTCTG	0.587000									Ichthyosis				47	206					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100417338	100417338	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:100417338C>G	ENST00000358173.3	-	6	1606	c.1138G>C	c.(1138-1140)Gac>Cac	p.D380H	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.D380H	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	380	Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGCCGGGGTCAAAAGTCAGG	0.662000													3	10					0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58352328	58352328	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:58352328G>A	ENST00000316059.6	+	2	512		c.e2-1		ZFP91-CNTF_ENST00000389919.4_Splice_Site	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein						activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATTTCTTTCAGATGCATAGAA	0.318000													8	61					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351471	89351471	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:89351471C>T	ENST00000301030.4	-	9	1939	c.1479G>A	c.(1477-1479)agG>agA	p.R493R	ANKRD11_ENST00000378330.2_Silent_p.R493R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	493	Ser-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)		CCAGAGAGTCCCTGTCATCCT	0.612000													5	19					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887677	12887677	+	Silent	SNP	A	A	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:12887677A>G	ENST00000535591.1	-	3	375	c.180T>C	c.(178-180)ctT>ctC	p.L60L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	60										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CCAGCACTTGAAGTTTCCATC	0.463000													5	232					0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41252444	41252444	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr22:41252444C>A	ENST00000216218.3	-	1	582	c.101G>T	c.(100-102)tGg>tTg	p.W34L		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	34							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CCTCTCCACCCACTCCCTCAG	0.657000													48	23					2.01807e-28	2.22854e-28	1	1	0
GRK6	2870	broad.mit.edu	37	5	176861046	176861046	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:176861046C>T	ENST00000355472.5	+	9	1038	c.870C>T	c.(868-870)ttC>ttT	p.F290F	GRK6_ENST00000507633.1_Silent_p.F290F|GRK6_ENST00000528793.1_Silent_p.F290F|GRK6_ENST00000393576.3_Silent_p.F256F|GRK6_ENST00000355958.5_Silent_p.F290F	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	290	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCGTCTTCTACGCCGCCG	0.662000													7	9					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39262552	39262552	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr13:39262552C>T	ENST00000280481.7	+	1	1287	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	357					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTTGATCTTCAACCTTACTT	0.577000													12	60					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79060254	79060254	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:79060254G>A	ENST00000321300.6	+	6	456	c.363G>A	c.(361-363)aaG>aaA	p.K121K	BAIAP2_ENST00000321280.7_Silent_p.K121K|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000435091.3_Silent_p.K121K|BAIAP2_ENST00000392411.3_Silent_p.K43K|BAIAP2_ENST00000575712.1_Silent_p.K121K|BAIAP2_ENST00000575245.1_Silent_p.K154K|BAIAP2_ENST00000428708.2_Silent_p.K121K	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	121	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CTGCGCTGAAGAAATACCAGA	0.547000													19	113					0	0	1	0	0
SCAMP2	10066	broad.mit.edu	37	15	75143779	75143779	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:75143779C>T	ENST00000268099.9	-	5	496	c.387G>A	c.(385-387)gtG>gtA	p.V129V		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	129					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AGCAGGGCTTCACAGGGCACC	0.557000													11	38					0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1208208	1208208	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:1208208C>G	ENST00000382952.3	-	7	1167	c.783G>C	c.(781-783)gaG>gaC	p.E261D	CTBP1_ENST00000290921.6_Missense_Mutation_p.E272D	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	272					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CCAGCGCCTTCTCATCCACCA	0.677000													6	6					0	0	1	0	0
CCDC106	29903	broad.mit.edu	37	19	56160591	56160591	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:56160591G>C	ENST00000586790.1	+	2	956	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	CCDC106_ENST00000588740.1_Missense_Mutation_p.E18Q|CCDC106_ENST00000308964.3_Missense_Mutation_p.E18Q|CCDC106_ENST00000591578.1_Missense_Mutation_p.E18Q|CCDC106_ENST00000591241.1_Intron			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	18						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGAGACCTTCGAGATCTCCAT	0.612000													21	161					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103484403	103484403	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:103484403C>T	ENST00000358392.2	-	10	1674	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	COL11A1_ENST00000353414.4_Missense_Mutation_p.E402K|COL11A1_ENST00000370096.3_Missense_Mutation_p.E441K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E325K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	441	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGTGGTCCTTCGACAAGCATA	0.333000													14	46					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347236	57347236	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:57347236G>C	ENST00000361249.3	+	5	679	c.583G>C	c.(583-585)Gaa>Caa	p.E195Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	195	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTCCACCTGTGAACGTCTCTA	0.478000													15	108					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100729481	100729481	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:100729481G>A	ENST00000358544.2	+	37	6723	c.6612G>A	c.(6610-6612)ctG>ctA	p.L2204L	VPS13B_ENST00000357162.2_Silent_p.L2179L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2204					protein transport			p.L2179L(1)|p.L2204L(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCCGCATTCTGATAGGACCAT	0.393000													10	49					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758461	99758461	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:99758461G>C	ENST00000360039.4	-	4	943	c.551C>G	c.(550-552)tCt>tGt	p.S184C	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S184C|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S122C|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.L83V|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.L83V	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	184					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCAGCCAAAGATGGTGACTT	0.562000													12	55					0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68466151	68466151	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:68466151C>T	ENST00000545237.1	+	10	1837	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	PIAS1_ENST00000249636.6_Nonsense_Mutation_p.Q364*			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	364					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TCTTTACATTCAGATGAATGA	0.383000													11	24					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45553639	45553639	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:45553639G>T	ENST00000359600.5	-	2	1071	c.866C>A	c.(865-867)aCg>aAg	p.T289K		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	289							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GTGGTGTGCCGTGATTAAATA	0.408000													41	87					8.16904e-11	8.73521e-11	1	1	0
TMEM59	9528	broad.mit.edu	37	1	54506466	54506466	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:54506466C>T	ENST00000371344.1	-	3	1696	c.277G>A	c.(277-279)Gat>Aat	p.D93N	TMEM59_ENST00000234831.5_Missense_Mutation_p.D224N|TMEM59_ENST00000371348.1_Missense_Mutation_p.D93N|TMEM59_ENST00000371341.1_Missense_Mutation_p.D93N			Q9BXS4	TMM59_HUMAN	transmembrane protein 59	224						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						CTTTCTCCATCTTCAAGAAAA	0.333000													18	108					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131896934	131896934	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:131896934G>A	ENST00000286355.5	-	8	4077	c.1985C>T	c.(1984-1986)tCt>tTt	p.S662F	ADCY8_ENST00000377928.3_Missense_Mutation_p.S662F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	662					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCAGGCCCAGACTGGACATG	0.433000										HNSCC(32;0.087)			36	122					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145290457	145290457	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:145290457C>T	ENST00000344859.3	+	5	1025	c.663C>T	c.(661-663)ctC>ctT	p.L221L	NBPF10_ENST00000369339.3_5'UTR|NOTCH2NL_ENST00000479995.2_3'UTR|RP11-458D21.5_ENST00000468030.1_Intron			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	0					cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTAAGCTGCTCAGCTTACAAG	0.378000													10	193					0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122342073	122342073	+	Silent	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:122342073G>C	ENST00000434824.1	-	1	948	c.732C>G	c.(730-732)ctC>ctG	p.L244L	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_3'UTR|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	244						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CCCCTTCTTTGAGAACTCGCA	0.418000													5	33					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67631633	67631633	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:67631633G>A	ENST00000272342.5	+	5	1949	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	607						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGATGTAGATGATGATTTGTT	0.343000													52	85					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130066275	130066275	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:130066275C>G	ENST00000278742.5	+	10	1573	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	385	CUB 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCAAATTCTTCTACCTGCTGG	0.632000													3	9					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183639155	183639155	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:183639155G>C	ENST00000334444.6	-	30	4487	c.4247C>G	c.(4246-4248)tCc>tGc	p.S1416C	ABCC5_ENST00000265586.6_Missense_Mutation_p.S1373C	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1416	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACTGTCGTTGGACAGAAGGAC	0.532000													8	111					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566580	55566580	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr10:55566580G>A	ENST00000373965.2	-	36	5208	c.4814C>T	c.(4813-4815)aCt>aTt	p.T1605I	PCDH15_ENST00000414778.1_Missense_Mutation_p.T1602I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATTTTTTCAGTAGAAAATGG	0.473000										HNSCC(58;0.16)			48	71					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171427406	171427406	+	Silent	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:171427406G>C	ENST00000356327.5	-	10	1075	c.1005C>G	c.(1003-1005)ctC>ctG	p.L335L	PLD1_ENST00000342215.6_Silent_p.L335L|PLD1_ENST00000351298.4_Silent_p.L335L|PLD1_ENST00000340989.4_Silent_p.L335L	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	335					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GATGATCTTTGAGAAAGTTGG	0.398000													46	136					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151879094	151879094	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:151879094C>G	ENST00000355193.2	-	36	6069	c.5851G>C	c.(5851-5853)Gat>Cat	p.D1951H	KMT2C_ENST00000262189.6_Missense_Mutation_p.D1951H					lysine (K)-specific methyltransferase 2C																		GAACATAAATCTCTGACAGGG	0.448000													34	129					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39887807	39887807	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:39887807G>C	ENST00000393939.2	-	6	1016	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	HAP1_ENST00000341193.5_Missense_Mutation_p.S344C|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Missense_Mutation_p.S336C|HAP1_ENST00000347901.4_Missense_Mutation_p.S336C			P54257	HAP1_HUMAN	huntingtin-associated protein 1	336	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GTCGAGTTGAGAGGCCTGGAG	0.557000													24	80					0	0	1	0	0
MAPRE2	10982	broad.mit.edu	37	18	32706973	32706973	+	Silent	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr18:32706973C>G	ENST00000436190.2	+	6	910	c.636C>G	c.(634-636)gcC>gcG	p.A212A	MAPRE2_ENST00000413393.1_Silent_p.A181A|MAPRE2_ENST00000588910.1_Silent_p.A224A|MAPRE2_ENST00000300249.5_Silent_p.A224A|MAPRE2_ENST00000589699.1_Silent_p.A181A|MAPRE2_ENST00000538170.2_Silent_p.A171A	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	224	DCTN1-binding.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CCTCATCAGCCAAAAGGGCTT	0.443000													13	110					0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56848060	56848060	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:56848060C>T	ENST00000257979.4	-	1	366	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	113					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	p.R113P(1)|p.R113Q(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						TAGGTTTCCTCGGACAGCAGG	0.597000													9	30					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46577288	46577288	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr13:46577288C>G	ENST00000242848.4	-	8	1278	c.930G>C	c.(928-930)aaG>aaC	p.K310N	ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.K310N			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	310							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GCTTGTCTCTCTTTTCTCTTT	0.313000													13	86					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71734167	71734167	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:71734167C>G	ENST00000393695.3	-	6	566	c.235G>C	c.(235-237)Gaa>Caa	p.E79Q	NUMA1_ENST00000351960.6_Missense_Mutation_p.E79Q|NUMA1_ENST00000358965.6_Missense_Mutation_p.E79Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	79					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACCAGGCATTCTGGGGAAGAG	0.507000			T	RARA	APL								28	101					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33020082	33020082	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:33020082C>G	ENST00000242209.4	+	5	979	c.810C>G	c.(808-810)aaC>aaG	p.N270K	FKBP9_ENST00000490776.2_Missense_Mutation_p.N38K|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538336.1_Missense_Mutation_p.N323K|FKBP9_ENST00000538443.1_Missense_Mutation_p.N132K	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	270					protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TACCTGAAAACTGTGAGCGGA	0.448000													29	120					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58134542	58134542	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:58134542C>T	ENST00000357272.4	+	36	6219	c.6054C>T	c.(6052-6054)ttC>ttT	p.F2018F	FLNB_ENST00000358537.3_Silent_p.F1994F|FLNB_ENST00000348383.5_Silent_p.F2018F|FLNB_ENST00000429972.2_Silent_p.F2007F|FLNB_ENST00000490882.1_Silent_p.F2049F|FLNB_ENST00000493452.1_Silent_p.F1825F|FLNB_ENST00000419752.2_Silent_p.F1838F|FLNB_ENST00000295956.4_Silent_p.F2018F			O75369	FLNB_HUMAN	filamin B, beta	2018	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCGGACTTTCGAGATGTCTG	0.592000													17	27					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15728725	15728725	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:15728725G>C	ENST00000396368.3	-	4	1101	c.895C>G	c.(895-897)Caa>Gaa	p.Q299E	KIAA0430_ENST00000540441.2_Missense_Mutation_p.Q299E|KIAA0430_ENST00000548025.1_Missense_Mutation_p.Q299E|KIAA0430_ENST00000602337.1_Missense_Mutation_p.Q299E|KIAA0430_ENST00000344181.3_Missense_Mutation_p.Q121E|KIAA0430_ENST00000551742.1_Missense_Mutation_p.Q299E	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	298						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGTGCAGGTTGAGTATTTGGA	0.458000													10	78					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130413	52130413	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:52130413G>C	ENST00000222107.4	-	7	1509	c.1371C>G	c.(1369-1371)atC>atG	p.I457M	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.I457M|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.I457M|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.I457M|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.I457M			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	457					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TTAAAAAGAAGATGAGGCACA	0.522000													6	28					0	0	1	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1893167	1893167	+	Silent	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:1893167C>G	ENST00000357103.4	+	7	1211	c.960C>G	c.(958-960)ctC>ctG	p.L320L		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	320					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TGGCCAGCCTCTACATCACAG	0.542000													12	52					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92472246	92472246	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:92472246G>C	ENST00000267622.4	-	11	2447	c.2074C>G	c.(2074-2076)Cag>Gag	p.Q692E		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	692					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCTTCTAACTGATGCCTCACA	0.333000			T	PDGFRB	AML								11	61					0	0	1	0	0
EHF	26298	broad.mit.edu	37	11	34668117	34668117	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:34668117G>C	ENST00000257831.3	+	3	350	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	EHF_ENST00000530286.1_Missense_Mutation_p.E77Q|EHF_ENST00000533754.1_Missense_Mutation_p.E77Q|EHF_ENST00000531794.1_Missense_Mutation_p.E99Q|EHF_ENST00000527935.1_Missense_Mutation_p.E77Q|EHF_ENST00000531728.1_Missense_Mutation_p.E77Q|EHF_ENST00000450654.2_Missense_Mutation_p.E77Q	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	77	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CCCTTTCCAAGAGTTCGACAT	0.572000													22	46					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40915698	40915698	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:40915698C>G	ENST00000346991.5	+	11	3704	c.3314C>G	c.(3313-3315)tCa>tGa	p.S1105*	CASC5_ENST00000399668.2_Nonsense_Mutation_p.S1079*			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1105	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|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)		ATTGTATTTTCAGAGAATCAT	0.368000													3	35					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304713	10304713	+	Missense_Mutation	SNP	G	G	C	rs75477725	by1000genomes	TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:10304713G>C	ENST00000403437.2	-	24	3081	c.2987C>G	c.(2986-2988)tCc>tGc	p.S996C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	996					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTCTCCTTGGACAGTTTTGC	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				42	90					0	0	1	0	0
PDE7A	5150	broad.mit.edu	37	8	66701248	66701248	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:66701248G>C	ENST00000379419.4	-	0	71				PDE7A_ENST00000401827.3_Intron|PDE7A_ENST00000396642.3_Intron	NM_002603.3	NP_002594.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A							cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	TTAGGAGTCTGATAAATACCA	0.488000													14	33					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116206801	116206801	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:116206801G>C	ENST00000355485.2	+	4	995	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	VANGL1_ENST00000369509.1_Missense_Mutation_p.E242Q|VANGL1_ENST00000310260.3_Missense_Mutation_p.E242Q|VANGL1_ENST00000369510.4_Missense_Mutation_p.E240Q	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	242					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CGTCCTGCTGGAGCTCAGGCA	0.587000													14	101					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94956023	94956023	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:94956023G>A	ENST00000341228.2	-	5	1782	c.987C>T	c.(985-987)tcC>tcT	p.S329S	SERPINA12_ENST00000556881.1_Silent_p.S329S	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	329					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CAAAGATTTTGGAGACACCTA	0.547000													8	24					0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11940566	11940566	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:11940566G>C	ENST00000571133.1	-	4	591	c.519C>G	c.(517-519)ttC>ttG	p.F173L	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	173					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTCTTTGATAGAAATGTCTCC	0.413000													24	189					0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37343762	37343762	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:37343762G>C	ENST00000394303.3	-	4	591	c.384C>G	c.(382-384)ttC>ttG	p.F128L	CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Missense_Mutation_p.F128L|CACNB1_ENST00000344140.5_Missense_Mutation_p.F128L	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	128	SH3.				axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CTTTGGGCTCGAAGGTGATGG	0.572000													17	42					0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57337902	57337902	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:57337902G>A	ENST00000342756.5	+	3	968	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SRP72_ENST00000510663.1_Missense_Mutation_p.E83K|SRP72_ENST00000504757.1_Missense_Mutation_p.E83K	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	83					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TCTCTCCTTTGAAAAGGCATA	0.388000													26	62					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61736450	61736450	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:61736450G>C	ENST00000423902.2	+	13	3732	c.3253G>C	c.(3253-3255)Gag>Cag	p.E1085Q	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.E1085Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1085	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CACTACATTTGAGATGATTTT	0.398000													7	36					0	0	1	0	0
LOC654342	654342	broad.mit.edu	37	2	91809238	91809238	+	RNA	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:91809238G>A	ENST00000609777.1	-	0	199																											TGGTGGCTTGGAAGCTGCTCC	0.562000													4	49					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31197824	31197824	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:31197824G>C	ENST00000362065.4	+	2	1249	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	FAN1_ENST00000561607.1_Missense_Mutation_p.E320Q|FAN1_ENST00000561594.1_Missense_Mutation_p.E320Q|FAN1_ENST00000565466.1_Missense_Mutation_p.E320Q	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	320					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GTCAGATTCAGAGGCAAAATC	0.408000								Direct reversal of damage					6	24					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53709021	53709021	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:53709021C>G	ENST00000262135.4	-	7	883	c.790G>C	c.(790-792)Gac>Cac	p.D264H	RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D264H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D264H|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D264H	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	264					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTACATTGTCCCGAATATTT	0.343000													6	31					0	0	1	0	0
RAD51B	5890	broad.mit.edu	37	14	68352635	68352635	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:68352635G>C	ENST00000487270.1	+	6	550	c.502G>C	c.(502-504)Gaa>Caa	p.E168Q	RAD51B_ENST00000390683.3_Missense_Mutation_p.E168Q|RAD51B_ENST00000471583.1_Missense_Mutation_p.E168Q|RAD51B_ENST00000487861.1_Missense_Mutation_p.E168Q|RAD51B_ENST00000488612.1_Missense_Mutation_p.E168Q	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	168					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						TAACACTGAAGAAAAGTTACT	0.343000								Direct reversal of damage					26	92					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234593477	234593477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:234593477G>A	ENST00000040877.1	-	9	1657	c.1658C>T	c.(1657-1659)tCa>tTa	p.S553L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	553					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GAGAAAAGTTGAGACATCAGA	0.348000													11	39					0	0	1	0	0
C5orf34	375444	broad.mit.edu	37	5	43492917	43492917	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:43492917G>C	ENST00000306862.2	-	9	1765	c.1390C>G	c.(1390-1392)Ctt>Gtt	p.L464V	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	464										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GAGTAGGCAAGAAATCTTCCC	0.388000													35	125					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121881584	121881584	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:121881584G>C	ENST00000377071.4	-	17	2536	c.2464C>G	c.(2464-2466)Caa>Gaa	p.Q822E	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.Q190E|KDM2B_ENST00000377069.4_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	822					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGGGACGTTTGAAGCGATGAG	0.607000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	49					0	0	1	0	0
TNFAIP8L2	79626	broad.mit.edu	37	1	151131555	151131555	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:151131555C>G	ENST00000368910.3	+	2	508	c.382C>G	c.(382-384)Cta>Gta	p.L128V		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	128					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGATGTGCTGCTAGAGTTGGT	0.602000													8	37					0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3085428	3085428	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:3085428C>T	ENST00000572449.1	-	2	132	c.70G>A	c.(70-72)Gag>Aag	p.E24K	CCDC64B_ENST00000389347.4_Missense_Mutation_p.E24K|RP11-473M20.5_ENST00000382225.3_RNA			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	24										breast(1)|endometrium(2)|large_intestine(1)	4						AAGAAGCCCTCGTCGCCGCTG	0.687000													4	19					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987635	61987635	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr13:61987635G>A	ENST00000409186.1	-	5	2702	c.597C>T	c.(595-597)atC>atT	p.I199I	PCDH20_ENST00000409204.4_Silent_p.I199I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	172	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I199I(1)|p.I172I(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGATGTCTCTGATGGCGATCT	0.517000													12	83					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80641711	80641711	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:80641711G>C	ENST00000307624.3	-	7	794	c.766C>G	c.(766-768)Cag>Gag	p.Q256E		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	256	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TACCAGGTCTGAAATGTATTG	0.413000													9	22					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1277794	1277794	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:1277794G>A	ENST00000378888.5	-	3	595	c.311C>T	c.(310-312)cCg>cTg	p.P104L	DVL1_ENST00000378891.5_Missense_Mutation_p.P104L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	104					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTCAAGAGGCGGGGGCAGGTC	0.697000													7	9					0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69728977	69728977	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:69728977G>C	ENST00000260363.4	+	14	1588	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	KIF23_ENST00000559279.1_Missense_Mutation_p.E491Q|KIF23_ENST00000558585.1_Missense_Mutation_p.E308Q|KIF23_ENST00000537891.1_Missense_Mutation_p.E308Q|KIF23_ENST00000395392.2_Missense_Mutation_p.E491Q|KIF23_ENST00000352331.4_Missense_Mutation_p.E491Q	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	491					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TATCAACGATGAGCAGACACT	0.363000													29	62					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142403115	142403115	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:142403115G>A	ENST00000337777.3	+	8	979	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	PLS1_ENST00000457734.2_Missense_Mutation_p.E256K|PLS1_ENST00000497002.1_Missense_Mutation_p.E256K	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	256	Actin-binding 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ATTGTTAAATGAAGGTGAGGA	0.423000													42	84					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30846942	30846942	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr18:30846942C>T	ENST00000383096.3	-	14	1529	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	CCDC178_ENST00000583930.1_Silent_p.L449L|CCDC178_ENST00000406524.2_Silent_p.L449L|CCDC178_ENST00000579947.1_Silent_p.L449L|CCDC178_ENST00000300227.8_Silent_p.L449L|CCDC178_ENST00000403303.1_Silent_p.L449L|CCDC178_ENST00000402325.1_Silent_p.L449L|CCDC178_ENST00000579916.1_Intron					coiled-coil domain containing 178																		TGTCTTCCGTCAGTTTTGTAC	0.264000													4	55					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137613106	137613106	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:137613106A>G	ENST00000330387.6	-	2	460	c.109T>C	c.(109-111)Tca>Cca	p.S37P	CREB3L2_ENST00000458726.1_5'UTR|CREB3L2_ENST00000456390.1_Missense_Mutation_p.S37P|CREB3L2_ENST00000452463.1_Missense_Mutation_p.S37P	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	37					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGAAGTTCTGAGAAGTGCTAC	0.458000			T	FUS	fibromyxoid sarcoma								18	36					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75061733	75061733	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:75061733A>T	ENST00000290573.2	+	1	626	c.26A>T	c.(25-27)tAc>tTc	p.Y9F		NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	9	Hydrophobic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTGCTTGCCTACTTCTTCACG	0.667000													37	16					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25570266	25570266	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr18:25570266C>T	ENST00000269141.3	-	10	1816	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	CDH2_ENST00000399380.3_Missense_Mutation_p.E434K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	465	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACTTGATTTTCTGCAGCAACA	0.403000													14	53					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45226118	45226118	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:45226118G>C	ENST00000372217.1	+	14	1723	c.1372G>C	c.(1372-1374)Gag>Cag	p.E458Q	RP11-269F19.2_ENST00000440985.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.E399Q|KIF2C_ENST00000372218.4_Missense_Mutation_p.E471Q|KIF2C_ENST00000372224.4_Missense_Mutation_p.E512Q			Q99661	KIF2C_HUMAN	kinesin family member 2C	512	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GACCCGCATGGAGGGCGCAGA	0.577000													6	34					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207105038	207105038	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:207105038C>G	ENST00000356495.4	-	9	2301	c.2118G>C	c.(2116-2118)gaG>gaC	p.E706D	PIGR_ENST00000487208.1_5'UTR	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	706						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGAGGGATGTCTCCTGAGTGA	0.502000													15	35					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1278808	1278808	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:1278808G>A	ENST00000310581.5	-	6	2291	c.2234C>T	c.(2233-2235)gCc>gTc	p.A745V	TERT_ENST00000508104.2_Missense_Mutation_p.A745V|TERT_ENST00000296820.5_Missense_Mutation_p.A745V|TERT_ENST00000334602.6_Missense_Mutation_p.A745V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	745	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGGACCACGGCATACCGACG	0.602000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				5	568					0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170606147	170606147	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:170606147G>C	ENST00000392647.2	+	4	1826	c.1582G>C	c.(1582-1584)Gag>Cag	p.E528Q	KLHL23_ENST00000602521.1_Missense_Mutation_p.E35Q|KLHL23_ENST00000272797.4_Missense_Mutation_p.E528Q	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	528										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TCAGAGCATTGAGAAATATGA	0.428000													16	113					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231473397	231473397	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:231473397G>C	ENST00000366645.1	-	1	201	c.83C>G	c.(82-84)tCg>tGg	p.S28W	EXOC8_ENST00000360394.2_Missense_Mutation_p.S32W|SPRTN_ENST00000391858.4_5'UTR			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	32					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CGACTGCTGCGAGAGCTGCTT	0.667000													8	41					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778309	31778309	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:31778309C>T	ENST00000375654.4	-	2	1630	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	HSPA1L_ENST00000417199.3_Missense_Mutation_p.D481N	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	481					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GCATCAATGTCAAACGTCACC	0.547000													35	27					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236141259	236141259	+	Missense_Mutation	SNP	C	C	T	rs144862964	byFrequency	TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:236141259C>T	ENST00000264187.6	-	20	3734	c.3652G>A	c.(3652-3654)Ggc>Agc	p.G1218S	NID1_ENST00000366595.3_Missense_Mutation_p.G1085S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1218	EGF-like 6.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGGGTGCAGCCGCCATTGTTC	0.512000													10	42					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40898618	40898618	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:40898618C>G	ENST00000346991.5	+	4	493	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	CASC5_ENST00000527044.1_Missense_Mutation_p.Q35E|CASC5_ENST00000399668.2_Missense_Mutation_p.Q35E			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	35	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|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)		GAGTCCTCTTCAGGACCTCAG	0.308000													4	60					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178491	140178491	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:140178491G>A	ENST00000458420.3	+	7	1292	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	368					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.D368Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAAAGTCCCCGATGGGATTGT	0.577000										HNSCC(16;0.037)			8	51					0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150690455	150690455	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:150690455C>G	ENST00000327047.1	-	1	331	c.41G>C	c.(40-42)gGa>gCa	p.G14A	CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.G14A|RP11-166N6.2_ENST00000469268.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	14					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACTGAACACTCCGGCCATGCA	0.507000													15	65					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634932	122634932	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:122634932C>G	ENST00000249284.2	-	1	822	c.757G>C	c.(757-759)Gat>Cat	p.D253H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	253					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.D253H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CATCTCTTATCAAATAGAGTA	0.423000													18	83					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186322851	186322851	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:186322851C>G	ENST00000367478.4	-	18	2599	c.2303G>C	c.(2302-2304)aGa>aCa	p.R768T	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATTTGCTCCTCTCAAATCTTG	0.373000			T	NTRK1	papillary thyroid								22	122					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178740591	178740591	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:178740591C>G	ENST00000286063.6	-	5	1679	c.1362G>C	c.(1360-1362)gaG>gaC	p.E454D	PDE11A_ENST00000389683.3_Missense_Mutation_p.E10D|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.E96D|PDE11A_ENST00000449286.2_Missense_Mutation_p.E96D|PDE11A_ENST00000358450.4_Missense_Mutation_p.E204D	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A		GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.E454D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CCTACCTGTTCTCAGCATCAG	0.393000									Primary Pigmented Nodular Adrenocortical Disease, Familial				11	54					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511863	169511863	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:169511863G>A	ENST00000367796.3	-	13	2681	c.2480C>T	c.(2479-2481)tCt>tTt	p.S827F	F5_ENST00000367797.3_Missense_Mutation_p.S822F			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	822	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGCTGTGGAAGAATTGAGAAC	0.493000													19	112					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539791	56539791	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:56539791C>T	ENST00000390649.3	+	7	2192	c.2192C>T	c.(2191-2193)cCg>cTg	p.P731L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	731						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAGCACTGTCCGTATTTGCGG	0.507000													93	103					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552378	1552378	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr20:1552378C>G	ENST00000381605.4	-	3	803	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	247					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CGGATGGCCTCAGACAAGTTG	0.622000													8	46					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4854913	4854913	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:4854913G>A	ENST00000302640.8	+	56	7861	c.7511G>A	c.(7510-7512)aGa>aAa	p.R2504K	ITPR1_ENST00000456211.2_Missense_Mutation_p.R2456K|ITPR1_ENST00000357086.4_Missense_Mutation_p.R2471K|ITPR1_ENST00000443694.2_Missense_Mutation_p.R2504K|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Missense_Mutation_p.R2471K|ITPR1_ENST00000544951.1_Missense_Mutation_p.R482K|ITPR1_ENST00000354582.6_Missense_Mutation_p.R2504K	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2519	Interaction with ERP44 (By similarity).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCTGCACCCAGAGAAGGTAGG	0.512000													12	54					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7014918	7014918	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:7014918G>T	ENST00000007969.8	+	2	341	c.121G>T	c.(121-123)Gag>Tag	p.E41*	LRRC23_ENST00000433346.1_Nonsense_Mutation_p.E41*|LRRC23_ENST00000436789.1_Nonsense_Mutation_p.E41*|LRRC23_ENST00000323702.5_Nonsense_Mutation_p.E41*|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000443597.2_Nonsense_Mutation_p.E41*|LRRC23_ENST00000429740.1_Nonsense_Mutation_p.E41*	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	41										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						agagTTCCCTGAGGAAGTGAG	0.567000													8	26					0.00621372	0.00633096	1	1	0
ZNF80	7634	broad.mit.edu	37	3	113955310	113955310	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:113955310G>C	ENST00000482457.2	-	1	1115	c.612C>G	c.(610-612)ttC>ttG	p.F204L		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	204						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TATGTCGGAAGAAAACAGAGC	0.488000													22	136					0	0	1	0	0
THUMPD1	55623	broad.mit.edu	37	16	20748490	20748490	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:20748490C>T	ENST00000381337.2	-	4	1118	c.774G>A	c.(772-774)ttG>ttA	p.L258L	THUMPD1_ENST00000431224.2_Silent_p.L344L|THUMPD1_ENST00000396083.2_Silent_p.L258L	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	258										NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						ATTTTCTAAACAACATGTAAT	0.413000													11	85					0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20760952	20760952	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr22:20760952C>T	ENST00000400451.2	+	5	2143	c.1629C>T	c.(1627-1629)ctC>ctT	p.L543L	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000356671.5_Silent_p.L543L|ZNF74_ENST00000405993.1_Silent_p.L511L|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	543					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACCACTGTCTCATTAAACATC	0.557000													21	42					0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13743302	13743302	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:13743302C>T	ENST00000532502.1	+	1	1853	c.25C>T	c.(25-27)Cac>Tac	p.H9Y	FAR1_ENST00000354817.3_Missense_Mutation_p.H385Y			Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	385					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						AACTCGTCTTCACAAAGCTAT	0.328000													8	26					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110883036	110883036	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:110883036G>C	ENST00000369784.3	+	1	1909	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	RBM15_ENST00000487146.2_Missense_Mutation_p.E337Q|RBM15_ENST00000602849.1_Missense_Mutation_p.E337Q	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	337					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCGTTCTATGAGAGAGTGCG	0.582000			T	MKL1	acute megakaryocytic leukemia								11	98					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84527554	84527554	+	Missense_Mutation	SNP	G	G	A	rs149710156	byFrequency	TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:84527554G>A	ENST00000286744.5	+	8	988	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R255Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	255						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGGAAGTCGAAGTGTGAGA	0.368000													13	65					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99453290	99453290	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:99453290A>T	ENST00000354829.2	+	8	850	c.747A>T	c.(745-747)ttA>ttT	p.L249F	CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Missense_Mutation_p.L249F|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Missense_Mutation_p.L139F|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.L249F	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	249			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CCCATTTTTTAAAAAATTCCA	0.308000													14	62					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70462006	70462006	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:70462006T>C	ENST00000503640.1	-	3	1013	c.958A>G	c.(958-960)Aat>Gat	p.N320D	UGT2A2_ENST00000457664.2_Missense_Mutation_p.N329D|UGT2A1_ENST00000502343.1_Intron|UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	320					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GCAATAAGATTGGCCTTTTCT	0.438000													26	31					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6173060	6173060	+	Splice_Site	SNP	T	T	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:6173060T>C	ENST00000262450.3	-	34	5012		c.e34-2		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCACCTCCTCTGCAAGAAAAA	0.567000													34	62					0	0	1	0	0
MRPL35	51318	broad.mit.edu	37	2	86433233	86433233	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:86433233C>G	ENST00000337109.4	+	2	82	c.48C>G	c.(46-48)atC>atG	p.I16M	MRPL35_ENST00000254644.8_Missense_Mutation_p.I16M|MRPL35_ENST00000409180.1_Missense_Mutation_p.I16M|MRPL35_ENST00000605125.1_Missense_Mutation_p.I16M	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	16					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						TTACAGGAATCCTACGGCCCC	0.363000													28	72					0	0	1	0	0
GFI1	2672	broad.mit.edu	37	1	92944155	92944155	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:92944155G>C	ENST00000370332.1	-	6	1398	c.1080C>G	c.(1078-1080)ttC>ttG	p.F360L	GFI1_ENST00000294702.5_Missense_Mutation_p.F360L|GFI1_ENST00000427103.1_Missense_Mutation_p.F360L	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	360					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CAGTGTGGATGAAAGTGTGTT	0.507000													7	45					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56676926	56676926	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:56676926G>C	ENST00000389934.3	-	14	1897	c.1780C>G	c.(1780-1782)Caa>Gaa	p.Q594E	TEX14_ENST00000240361.8_Missense_Mutation_p.Q600E|TEX14_ENST00000349033.5_Missense_Mutation_p.Q594E	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	600						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAGCATCTTGATTCTGAGTC	0.527000													23	55					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72345800	72345800	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr18:72345800C>G	ENST00000299687.5	+	1	2825	c.2825C>G	c.(2824-2826)tCa>tGa	p.S942*	ZNF407_ENST00000577538.1_Nonsense_Mutation_p.S942*|ZNF407_ENST00000309902.6_Nonsense_Mutation_p.S942*|ZNF407_ENST00000582337.1_Nonsense_Mutation_p.S942*	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	942					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GTGACCATGTCAGATGAACAT	0.438000													14	30					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39063898	39063898	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:39063898G>C	ENST00000355481.4	+	95	14196	c.14065G>C	c.(14065-14067)Gag>Cag	p.E4689Q	RYR1_ENST00000359596.3_Missense_Mutation_p.E4694Q|RYR1_ENST00000360985.3_Missense_Mutation_p.E4689Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4694					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGCAGCCTGAGGACGATGA	0.622000													12	37					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156491	111156491	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:111156491C>T	ENST00000280325.4	+	4	570	c.423C>T	c.(421-423)tcC>tcT	p.S141S		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	141										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AGCTTGAGTCCGGGAGCATCG	0.637000													25	25					0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216960915	216960915	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:216960915G>C	ENST00000454545.1	+	3	555	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	TMEM169_ENST00000295658.4_Missense_Mutation_p.E77Q|TMEM169_ENST00000437356.2_Missense_Mutation_p.E77Q|TMEM169_ENST00000406027.2_Missense_Mutation_p.E77Q	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	77						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGCCTAAAGAGGAGGAGGG	0.478000													4	16					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237550635	237550635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:237550635C>T	ENST00000366574.2	+	9	948	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F	RYR2_ENST00000360064.6_Missense_Mutation_p.L209F|RYR2_ENST00000542537.1_Missense_Mutation_p.L195F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	211	MIR 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAGCAGACTCTCTGGAGCGT	0.522000													16	79					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539858	120539858	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:120539858G>A	ENST00000256646.2	-	4	732	c.513C>T	c.(511-513)ctC>ctT	p.L171L	NOTCH2_ENST00000602566.1_Silent_p.L132L	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	171	EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAAGCCTGTGAGGCATTTGC	0.537000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				11	116					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201981243	201981243	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:201981243G>A	ENST00000359651.3	+	2	3514	c.322G>A	c.(322-324)Gag>Aag	p.E108K	ELF3_ENST00000367284.5_Missense_Mutation_p.E108K|ELF3_ENST00000367283.3_Missense_Mutation_p.E108K|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	108	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TTGTGCCCTTGAGGAGCTGCG	0.597000													5	34					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26513552	26513552	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr10:26513552G>A	ENST00000376261.3	+	6	1199	c.696G>A	c.(694-696)ggG>ggA	p.G232G	GAD2_ENST00000376248.1_Silent_p.G118G|GAD2_ENST00000259271.3_Silent_p.G232G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	232			G -> E (in dbSNP:rs2839673).		glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GCTGGCCAGGGGGCTCTGGCG	0.388000													10	28					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53571545	53571545	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:53571545G>T	ENST00000601421.1	-	3	3010	c.2134C>A	c.(2134-2136)Ctg>Atg	p.L712M	ZNF160_ENST00000599056.1_Missense_Mutation_p.L748M|ZNF160_ENST00000429604.1_Missense_Mutation_p.L748M|ZNF160_ENST00000418871.1_Missense_Mutation_p.L748M			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	748					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGATTTGCCAGGTGAGCATTT	0.438000													27	163					7.41945e-09	7.87132e-09	1	1	0
DLG1	1739	broad.mit.edu	37	3	196802722	196802722	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:196802722C>T	ENST00000314062.3	-	17	2060	c.1871G>A	c.(1870-1872)gGa>gAa	p.G624E	DLG1_ENST00000392382.2_Missense_Mutation_p.G642E|DLG1_ENST00000448528.2_Missense_Mutation_p.G675E|DLG1_ENST00000357674.4_Intron|DLG1_ENST00000422288.1_Missense_Mutation_p.G624E|DLG1_ENST00000346964.2_Intron|DLG1_ENST00000450955.1_Intron|DLG1_ENST00000452595.1_Missense_Mutation_p.G559E|DLG1_ENST00000419354.1_Missense_Mutation_p.G675E|DLG1_ENST00000443183.1_Missense_Mutation_p.G559E			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	675	SH3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GCCTTTTGATCCCATGTCGTC	0.388000													10	94					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117392	46117392	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr21:46117392G>A	ENST00000400365.3	+	1	306	c.276G>A	c.(274-276)ccG>ccA	p.P92P	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	92	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						GCTGCCAGCCGGCTTGCTGCA	0.672000													6	132					0	0	1	0	0
NUDT16L1	84309	broad.mit.edu	37	16	4745097	4745097	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:4745097G>C	ENST00000304301.6	+	3	586	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	NUDT16L1_ENST00000586536.1_3'UTR|NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000586252.1_Missense_Mutation_p.E145Q	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	185	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						CATGATGCCCGAGGAGAAGCT	0.617000													18	63					0	0	1	0	0
PPP1R8	5511	broad.mit.edu	37	1	28167703	28167703	+	Silent	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:28167703C>G	ENST00000373931.4	+	4	819	c.24C>G	c.(22-24)ctC>ctG	p.L8L	PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000311772.5_Silent_p.L150L	NM_138558.2	NP_612568.1	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	150	Interaction with CDC5L, SF3B1 and MELK.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		ATGATGAACTCAAGGGCTTAC	0.493000													6	65					0	0	1	0	0
PPP1R8	5511	broad.mit.edu	37	1	28167600	28167600	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:28167600C>G	ENST00000311772.5	+	4	405	c.347C>G	c.(346-348)tCa>tGa	p.S116*	PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000373931.4_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	116	Interaction with CDC5L, SF3B1 and MELK.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACGGTCTCATTTGGCGCA	0.507000													22	83					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41009994	41009994	+	Silent	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:41009994C>G	ENST00000352632.3	+	12	1706	c.1620C>G	c.(1618-1620)gtC>gtG	p.V540V	SPTBN4_ENST00000595535.1_Silent_p.V540V|SPTBN4_ENST00000344104.3_Silent_p.V540V|SPTBN4_ENST00000338932.3_Silent_p.V540V|SPTBN4_ENST00000598249.1_Silent_p.V540V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	540					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCAGAAGGTCTTCCAGGAGA	0.667000													7	53					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10577811	10577811	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:10577811G>C	ENST00000380702.2	+	16	2109	c.2109G>C	c.(2107-2109)caG>caC	p.Q703H	PDE4A_ENST00000440014.2_Missense_Mutation_p.Q664H|PDE4A_ENST00000344979.3_Missense_Mutation_p.Q486H|PDE4A_ENST00000352831.6_Missense_Mutation_p.Q725H|PDE4A_ENST00000592685.1_Missense_Mutation_p.Q703H|PDE4A_ENST00000293683.5_Missense_Mutation_p.Q699H			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	725	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAATGGCCCAGATACCGTGCA	0.597000													12	20					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56274522	56274522	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:56274522C>G	ENST00000225371.5	+	7	1134	c.1024C>G	c.(1024-1026)Caa>Gaa	p.Q342E		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	342					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCAGCGCTTTCAAGACAACGG	0.647000													19	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179424635	179424635	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:179424635G>T	ENST00000589042.1	-	326	86448	c.86224C>A	c.(86224-86226)Cct>Act	p.P28742T	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P27101T|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P19869T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P19802T|TTN_ENST00000460472.2_Missense_Mutation_p.P19677T|TTN_ENST00000342992.6_Missense_Mutation_p.P26174T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27101	Fibronectin type-III 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTATCTGAGGGTCAGAGCTA	0.403000													22	63					3.62473e-10	3.86066e-10	1	1	0
LDLRAD1	388633	broad.mit.edu	37	1	54474692	54474692	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:54474692G>T	ENST00000371360.1	-	6	598	c.581C>A	c.(580-582)tCc>tAc	p.S194Y	LDLRAD1_ENST00000420619.1_Missense_Mutation_p.S155Y|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.S105Y|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.S151Y	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	194	LDL-receptor class A 3; atypical.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						GGACCAGTCGGAGCAGTGCTG	0.592000													21	101					3.83957e-06	4.03379e-06	1	1	0
CD28	940	broad.mit.edu	37	2	204591658	204591658	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:204591658C>A	ENST00000324106.8	+	2	504	c.355C>A	c.(355-357)Cct>Act	p.P119T	CD28_ENST00000374481.3_Intron|CD28_ENST00000458610.2_Missense_Mutation_p.P133T|CD28_ENST00000374478.4_Intron	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule		Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						AGTTATGTATCCTCCTCCTTA	0.373000													12	48					0.0135373	0.0136638	1	1	0
SEC62	7095	broad.mit.edu	37	3	169710401	169710401	+	Silent	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:169710401C>A	ENST00000337002.4	+	8	808	c.750C>A	c.(748-750)ctC>ctA	p.L250L	SEC62_ENST00000480708.1_Silent_p.L250L|SEC62_ENST00000470355.1_3'UTR	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	250					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TTCTATTTCTCATCATTTGGC	0.423000													20	160					3.8784e-16	4.21396e-16	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								6	32					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94057038	94057038	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:94057038C>T	ENST00000297268.6	+	49	3838	c.3367C>T	c.(3367-3369)Cgc>Tgc	p.R1123C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1123				Missing (in Ref. 17; CAA23761).	axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGACCAGCCTCGCTCAGCACC	0.552000										HNSCC(75;0.22)			27	55					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204416581	204416581	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:204416581C>T	ENST00000367187.3	-	16	3028	c.2472G>A	c.(2470-2472)caG>caA	p.Q824Q	PIK3C2B_ENST00000424712.2_Silent_p.Q824Q	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	824					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGGACTCTTTCTGCATGATGT	0.557000													6	33					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107827518	107827518	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:107827518C>G	ENST00000317357.5	+	3	967	c.308C>G	c.(307-309)tCa>tGa	p.S103*		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	103							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ACAGGCTATTCAGGGCTTGCC	0.398000													30	64					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204416577	204416577	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:204416577C>T	ENST00000367187.3	-	16	3032	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.E826K	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	826					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TACAAGGACTCTTTCTGCATG	0.562000													6	32					0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176769430	176769430	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:176769430G>C	ENST00000430069.1	-	5	548	c.289C>G	c.(289-291)Caa>Gaa	p.Q97E	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.Q97E			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	97					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CTATAAGCTTGTTGTCTTGTT	0.468000													14	77					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44596235	44596235	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:44596235G>A	ENST00000372299.3	+	3	1035	c.977G>A	c.(976-978)cGt>cAt	p.R326H	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	326					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TCTTTCTTCCGTTCTGATGAG	0.458000													17	79					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21675621	21675621	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:21675621C>G	ENST00000328843.6	+	26	4679	c.4648C>G	c.(4648-4650)Cac>Gac	p.H1550D	DNAH11_ENST00000409508.3_Missense_Mutation_p.H1545D|DNAH11_ENST00000465593.1_3'UTR			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1550	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACTTGGTCTCACCTGGAAAG	0.388000									Kartagener syndrome				4	20					0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16330068	16330068	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:16330068G>A	ENST00000338560.7	+	7	1527	c.1128G>A	c.(1126-1128)ctG>ctA	p.L376L	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	376	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGGAGCCCCTGAACAAACTGC	0.517000													10	27					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78113852	78113852	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:78113852C>G	ENST00000269349.3	-	5	681	c.460G>C	c.(460-462)Gat>Cat	p.D154H		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	154	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGTCCGTAATCCAGCTTCCTG	0.512000													17	36					0	0	1	0	0
DOK1	1796	broad.mit.edu	37	2	74784211	74784211	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:74784211G>A	ENST00000233668.5	+	5	2085	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Silent_p.K333K|DOK1_ENST00000340004.6_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	472					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGACTGACAAGACTGGGGTCA	0.587000													6	33					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39674609	39674609	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:39674609G>C	ENST00000393974.3	-	1	2662	c.59C>G	c.(58-60)tCa>tGa	p.S20*	KRT15_ENST00000393976.2_Missense_Mutation_p.F157L|KRT15_ENST00000393981.3_Nonsense_Mutation_p.S20*|KRT15_ENST00000254043.3_Missense_Mutation_p.F157L			P19012	K1C15_HUMAN	keratin 15	347	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAATGGTCTTGAAGTATTGGC	0.547000													17	60					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21799328	21799328	+	Silent	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr22:21799328C>A	ENST00000443632.2	+	2	516	c.144C>A	c.(142-144)gtC>gtA	p.V48V	HIC2_ENST00000407598.2_Silent_p.V48V|HIC2_ENST00000407464.2_Silent_p.V48V			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	48	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGTGTGACGTCATCATCATGG	0.602000													19	47					2.5808e-16	2.81541e-16	1	1	0
CYP4A22	284541	broad.mit.edu	37	1	47610566	47610566	+	Silent	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:47610566C>G	ENST00000371891.3	+	9	1177	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	CYP4A22_ENST00000371890.3_Silent_p.L284L|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.L382L	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	382						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACTGAGGCTCTACCCACCGG	0.572000													5	45					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154595663	154595663	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:154595663G>A	ENST00000404039.1	+	14	1892	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	DPP6_ENST00000377770.3_Silent_p.K499K|DPP6_ENST00000427557.1_Silent_p.K392K|DPP6_ENST00000332007.3_Silent_p.K437K	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	499					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGGGAATAAGATGTGAGTGA	0.512000													3	13					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72361941	72361941	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:72361941G>A	ENST00000001146.2	-	4	1013	c.810C>T	c.(808-810)ctC>ctT	p.L270L	CYP26B1_ENST00000546307.1_Silent_p.L195L|CYP26B1_ENST00000412253.1_Silent_p.L79L	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	270					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGCTCTCAATGAGGAGGTCCA	0.632000													9	31					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289325	160289325	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:160289325C>T	ENST00000392783.2	-	9	2338	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	BAZ2B_ENST00000355831.2_Missense_Mutation_p.D615N|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D613N|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D613N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	615	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						tcttcttcatcatcttcctct	0.338000													14	48					0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74720008	74720008	+	Silent	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:74720008G>C	ENST00000445478.2	-	3	854	c.651C>G	c.(649-651)ctC>ctG	p.L217L	JMJD6_ENST00000585429.1_Silent_p.L217L|JMJD6_ENST00000397625.4_Silent_p.L217L	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	217	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCACTTTGATGAGTTCCCTGG	0.542000													25	70					0	0	1	0	0
TXLNA	200081	broad.mit.edu	37	1	32660773	32660773	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:32660773G>A	ENST00000373609.1	+	10	1899	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	TXLNA_ENST00000373610.3_Missense_Mutation_p.E540K			P40222	TXLNA_HUMAN	taxilin alpha	540					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGGGCCTCAAGAGCCCACCTC	0.662000													3	20					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175436669	175436669	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:175436669C>T	ENST00000392547.2	-	5	963	c.864G>A	c.(862-864)caG>caA	p.Q288Q	WIPF1_ENST00000272746.5_Silent_p.Q288Q|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Silent_p.Q288Q|WIPF1_ENST00000409415.3_Silent_p.Q288Q|WIPF1_ENST00000392546.2_Silent_p.Q288Q|WIPF1_ENST00000359761.3_Silent_p.Q288Q|AC018890.6_ENST00000412835.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	288	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GCTTGTTGTTCTGAGGAGGAG	0.692000													6	27					0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39340275	39340275	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:39340275G>A	ENST00000357771.3	-	2	1776	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_Intron|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.S499F|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR	NM_030772.4	NP_110399.2	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	499					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTTCGTTAGGGACACTACGTG	0.443000													10	69					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088101	86088101	+	Silent	SNP	T	T	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:86088101T>C	ENST00000330753.4	+	2	1010	c.243T>C	c.(241-243)ccT>ccC	p.P81P	FLRT2_ENST00000554746.1_Silent_p.P81P	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	81					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGGATTTCCTGCAGAACTGC	0.493000													40	36					0	0	1	0	0
RAB34	83871	broad.mit.edu	37	17	27042243	27042243	+	Silent	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:27042243G>C	ENST00000395245.3	-	7	1109	c.483C>G	c.(481-483)ctC>ctG	p.L161L	RAB34_ENST00000301043.6_Silent_p.L161L|RAB34_ENST00000395242.2_Silent_p.L162L|RAB34_ENST00000415040.2_Silent_p.L139L|RAB34_ENST00000450529.1_Silent_p.L161L|RAB34_ENST00000447716.1_Silent_p.L218L|RAB34_ENST00000453384.3_Silent_p.L219L|RAB34_ENST00000436730.3_Silent_p.L161L|RAB34_ENST00000395243.3_Silent_p.L161L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	161					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CTACAAGGAAGAGAAGCACAC	0.587000													10	17					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48201923	48201923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:48201923C>T	ENST00000396720.3	+	12	3475	c.3281C>T	c.(3280-3282)tCc>tTc	p.S1094F	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1094							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CACCAGGGCTCCGTCCTGCAC	0.667000											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	62					0	0	1	0	0
VTN	7448	broad.mit.edu	37	17	26696963	26696963	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:26696963C>T	ENST00000226218.4	-	2	787	c.169G>A	c.(169-171)Gag>Aag	p.E57K	CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	57	SMB.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GGCTTGCACTCAGCCGTATAG	0.602000													9	29					0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137849806	137849806	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:137849806G>C	ENST00000236709.3	-	2	494	c.293C>G	c.(292-294)tCa>tGa	p.S98*		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	98					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TGTGGAGTTTGAGGGCATCGG	0.458000													10	77					0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127072	226127072	+	Silent	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:226127072G>C	ENST00000366820.5	-	3	1074	c.726C>G	c.(724-726)ctC>ctG	p.L242L	LEFTY2_ENST00000420304.2_Silent_p.L208L	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	242					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CATAGTCCCTGAGGTCCAGGG	0.701000													5	11					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27389696	27389696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:27389696G>T	ENST00000379214.4	-	18	3017	c.2574C>A	c.(2572-2574)tgC>tgA	p.C858*	LGR4_ENST00000389858.4_Nonsense_Mutation_p.C834*	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	858						integral to membrane|plasma membrane	protein-hormone receptor activity	p.C858C(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CGCAGCAGTCGCAAACAGTCA	0.458000													16	76					9.16793e-09	9.70722e-09	1	1	0
DOPEY2	9980	broad.mit.edu	37	21	37537095	37537095	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr21:37537095G>A	ENST00000399151.3	+	2	149	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	22					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCAGTGATTGAAAAGGCTTT	0.393000													14	45					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99856117	99856117	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:99856117C>G	ENST00000369239.5	-	7	908	c.704G>C	c.(703-705)tGg>tCg	p.W235S	PNISR_ENST00000438806.1_Missense_Mutation_p.W235S	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	235						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTCGCGAATCCAAGCGGGAAG	0.363000													10	38					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520312	40520312	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:40520312C>T	ENST00000347077.4	+	7	1351	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.H353Y	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCAGAAAATTCATACTGGTGT	0.378000													9	62					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3022463	3022463	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:3022463C>T	ENST00000397114.3	-	23	2474	c.2098G>A	c.(2098-2100)Gac>Aac	p.D700N	CARS_ENST00000278224.9_Missense_Mutation_p.M712I|CARS_ENST00000401769.3_Missense_Mutation_p.M725I|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000397111.5_Missense_Mutation_p.D710N|CARS_ENST00000380525.4_Missense_Mutation_p.D793N			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	710					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CCCTCCATGTCATGTGTGGGC	0.547000			T	ALK	ALCL								14	26					0	0	1	0	0
CCDC14	64770	broad.mit.edu	37	3	123634183	123634183	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:123634183C>G	ENST00000485727.1	-	9	6297	c.1705G>C	c.(1705-1707)Gaa>Caa	p.E569Q	CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.E569Q|CCDC14_ENST00000310351.4_Missense_Mutation_p.E609Q|CCDC14_ENST00000488653.2_Missense_Mutation_p.E769Q|CCDC14_ENST00000433542.2_Missense_Mutation_p.E728Q			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	769						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TGCTCATCTTCTATTAAAGCC	0.398000													19	201					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151765314	151765314	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:151765314G>A	ENST00000535741.1	-	28	4980	c.4507C>T	c.(4507-4509)Ctt>Ttt	p.L1503F	LRBA_ENST00000510413.1_Missense_Mutation_p.L1503F|LRBA_ENST00000507224.1_Missense_Mutation_p.L1503F|LRBA_ENST00000357115.3_Missense_Mutation_p.L1503F			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1503						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGCCTGTCAAGATCTCTTACT	0.338000													17	42					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41526462	41526462	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:41526462G>C	ENST00000313860.7	+	3	258	c.204G>C	c.(202-204)aaG>aaC	p.K68N	LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000512820.1_Missense_Mutation_p.K68N|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000512632.1_Missense_Mutation_p.K68N|LIMCH1_ENST00000512946.1_Missense_Mutation_p.K68N|LIMCH1_ENST00000508501.1_Missense_Mutation_p.K68N	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	68	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTGTTAAAAAGATCAATAGAT	0.408000													26	65					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72372843	72372843	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:72372843C>G	ENST00000333850.3	+	7	1058	c.917C>G	c.(916-918)tCa>tGa	p.S306*		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	306					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CGGCATGGCTCAGATCCCCTC	0.532000													30	77					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568942	5568942	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:5568942G>A	ENST00000331789.5	-	3	404	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	71					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGCCGTGCTCGATGGGGTACT	0.597000													16	71					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654746	61654746	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:61654746C>T	ENST00000423902.2	+	2	1234	c.755C>T	c.(754-756)tCg>tTg	p.S252L	CHD7_ENST00000524602.1_Missense_Mutation_p.S252L|CHD7_ENST00000525508.1_Missense_Mutation_p.S252L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	252					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.S252L(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTGCGTCACTCGGTGCAGCAG	0.582000													36	107					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	78005778	78005778	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:78005778G>A	ENST00000302536.2	+	8	1262	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	370							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						ATTCACGACCGAGGGAACATT	0.532000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	161					0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43232625	43232625	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:43232625C>T	ENST00000236040.4	-	1	58	c.18G>A	c.(16-18)ttG>ttA	p.L6L	LEPRE1_ENST00000296388.5_Silent_p.L6L|LEPRE1_ENST00000397054.3_Silent_p.L6L	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	6					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCAGCAGCTTCAACGCGCGTA	0.697000													5	25					0	0	1	0	0
WBSCR22	114049	broad.mit.edu	37	7	73101344	73101344	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:73101344G>A	ENST00000265758.2	+	5	339	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Missense_Mutation_p.R94Q	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	94						nucleus	methyltransferase activity	p.R94L(2)		autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCTGTGGACCGAGAGATAGAG	0.522000													10	40					0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	816939	816939	+	Silent	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:816939C>G	ENST00000566549.1	+	14	1845	c.1428C>G	c.(1426-1428)ctC>ctG	p.L476L	MSLN_ENST00000563941.1_Silent_p.L476L|MSLN_ENST00000382862.3_Silent_p.L484L|MSLN_ENST00000545450.2_Silent_p.L476L			Q13421	MSLN_HUMAN	mesothelin	484					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGGACGTCCTCTATCCCAAGG	0.637000													15	34					0	0	1	0	0
GLT8D1	55830	broad.mit.edu	37	3	52729269	52729269	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:52729269G>C	ENST00000407584.3	-	10	1712	c.862C>G	c.(862-864)Ctg>Gtg	p.L288V	GLT8D1_ENST00000266014.5_Missense_Mutation_p.L288V|GLT8D1_ENST00000394783.3_Missense_Mutation_p.L288V|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000491606.1_Missense_Mutation_p.L288V|GLT8D1_ENST00000478968.2_Missense_Mutation_p.L288V	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	288						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACGATAAGCAGAGGAGGTGTT	0.433000													22	40					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100898141	100898141	+	Splice_Site	SNP	A	A	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:100898141A>T	ENST00000369208.3	-	4	1131		c.e4+1		SIM1_ENST00000262901.4_Splice_Site			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1						cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCACTCACCTACCTGAGAAAG	0.562000													32	86					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10491107	10491107	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:10491107C>T	ENST00000397077.1	-	4	696	c.121G>A	c.(121-123)Gag>Aag	p.E41K	ATP2B2_ENST00000360273.2_Missense_Mutation_p.E41K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E41K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E41K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E41K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	41					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCACAGCCTCAGTGCCCCGC	0.547000													11	41					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16621317	16621317	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:16621317C>T	ENST00000375592.3	-	4	679	c.463G>A	c.(463-465)Gac>Aac	p.D155N	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	155										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTGTTTAGGTCAAGTCTCCAG	0.468000													14	50					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103119939	103119939	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:103119939G>C	ENST00000295269.4	+	3	1210	c.753G>C	c.(751-753)aaG>aaC	p.K251N		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	251					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTACAAAGATGCATAAAT	0.368000													5	45					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49067228	49067228	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:49067228C>A	ENST00000262013.7	-	21	2831	c.2623G>T	c.(2623-2625)Gaa>Taa	p.E875*	SPAG9_ENST00000510283.1_Nonsense_Mutation_p.E718*|SPAG9_ENST00000505279.1_Nonsense_Mutation_p.E865*|SPAG9_ENST00000357122.4_Nonsense_Mutation_p.E861*	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	875					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTTTCTGCTTCCATTTCTACA	0.413000													10	50					3.86212e-05	4.01839e-05	1	1	0
MORC1	27136	broad.mit.edu	37	3	108682317	108682317	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:108682317C>G	ENST00000232603.5	-	27	2825	c.2743G>C	c.(2743-2745)Gat>Cat	p.D915H	MORC1_ENST00000483760.1_Missense_Mutation_p.D894H	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	915					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCAGCTTATCCTCAGAGATT	0.353000													18	101					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410235	105410235	+	Silent	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:105410235G>T	ENST00000333244.5	-	7	11672	c.11553C>A	c.(11551-11553)ctC>ctA	p.L3851L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3851						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGAATGCTGAGGTCAGTGG	0.627000													57	123					6.3091e-27	6.95289e-27	1	1	0
CBLB	868	broad.mit.edu	37	3	105400443	105400443	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:105400443C>G	ENST00000264122.4	-	16	2629	c.2308G>C	c.(2308-2310)Gat>Cat	p.D770H	CBLB_ENST00000405772.1_Missense_Mutation_p.D770H|CBLB_ENST00000394027.3_Intron|CBLB_ENST00000403724.1_3'UTR|CBLB_ENST00000407712.1_Intron	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	770	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GAGGCTGAATCAAAAACATCT	0.423000			Mis S		AML								17	59					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21249812	21249812	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:21249812C>G	ENST00000233242.1	-	15	2219	c.2092G>C	c.(2092-2094)Gag>Cag	p.E698Q	APOB_ENST00000399256.4_Missense_Mutation_p.E698Q	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	698					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATGTTGGCTCAAAGCCTTTT	0.433000													11	55					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164959	85164959	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:85164959C>T	ENST00000448803.2	+	3	1825	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Silent_p.F511F|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.F361F|ZSCAN2_ENST00000327179.6_Silent_p.F510F	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	511					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GGAAATGCTTCAGCCAGCGCT	0.597000													21	80					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66044866	66044866	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:66044866G>C	ENST00000443035.3	-	4	627	c.412C>G	c.(412-414)Caa>Gaa	p.Q138E	DENND4A_ENST00000431932.2_Missense_Mutation_p.Q138E	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	138	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TAAATTCTTTGTGATGAGGTA	0.393000													4	25					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55527025	55527025	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:55527025C>G	ENST00000436346.1	-	29	5616	c.4775G>C	c.(4774-4776)aGa>aCa	p.R1592T	CCDC88A_ENST00000413716.2_Missense_Mutation_p.R1591T|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R1564T|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R1591T|CCDC88A_ENST00000422883.2_Intron	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1592					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|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						AGTGGATGTTCTGCCACTATC	0.373000													28	155					0	0	1	0	0
TMX3	54495	broad.mit.edu	37	18	66378621	66378621	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr18:66378621C>T	ENST00000299608.2	-	3	437	c.121G>A	c.(121-123)Gat>Aat	p.D41N	TMX3_ENST00000443099.2_Missense_Mutation_p.D41N|TMX3_ENST00000562706.1_Missense_Mutation_p.D41N	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	41	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CAAATGTCATCATTTCGATTT	0.284000													5	47					0	0	1	0	0
GOSR1	9527	broad.mit.edu	37	17	28808204	28808204	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:28808204G>A	ENST00000225724.5	+	2	147	c.75G>A	c.(73-75)ctG>ctA	p.L25L	GOSR1_ENST00000581721.1_Silent_p.L25L|GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000579905.1_3'UTR|GOSR1_ENST00000451249.2_Silent_p.L25L	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	25					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						AACTTGACCTGAAACTAGTTT	0.378000													21	81					0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48789341	48789341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:48789341G>A	ENST00000595607.1	+	6	954	c.460G>A	c.(460-462)Gac>Aac	p.D154N	ZNF114_ENST00000315849.1_Missense_Mutation_p.D154N|ZNF114_ENST00000600687.1_Missense_Mutation_p.D154N|ZNF114_ENST00000597695.1_Missense_Mutation_p.D120N			Q8NC26	ZN114_HUMAN	zinc finger protein 114	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		CCTAACACGTGACTCAAGTAT	0.408000													26	70					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194146103	194146103	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:194146103C>A	ENST00000439040.1	-	30	4072	c.3281G>T	c.(3280-3282)gGa>gTa	p.G1094V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.G1094V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1094					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GAAGGGTTTTCCTTTTGAAAA	0.338000													13	75					6.72482e-11	7.20517e-11	1	1	0
ARIH2	10425	broad.mit.edu	37	3	49017876	49017876	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:49017876G>C	ENST00000356401.4	+	13	1543	c.1204G>C	c.(1204-1206)Ggg>Cgg	p.G402R	RP13-131K19.1_ENST00000415982.1_RNA|ARIH2_ENST00000449376.1_Missense_Mutation_p.G402R|RP13-131K19.1_ENST00000429681.1_RNA	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	402					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GAACAATCTGGGGACATGGAT	0.512000													18	35					0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21957484	21957484	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:21957484G>A	ENST00000405508.1	+	6	1008	c.732G>A	c.(730-732)caG>caA	p.Q244Q	TOX4_ENST00000448790.2_Silent_p.Q221Q|TOX4_ENST00000262709.3_Silent_p.Q244Q			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	244						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCAAGGGACAGAATCCTAATG	0.418000													28	95					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236750706	236750706	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:236750706C>G	ENST00000366582.3	-	14	1825	c.1711G>C	c.(1711-1713)Gaa>Caa	p.E571Q	HEATR1_ENST00000366581.2_Missense_Mutation_p.E571Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	571					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACATACCATTCTCCATTCTTT	0.289000													4	36					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844452	5844452	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:5844452G>C	ENST00000303225.6	-	3	1033	c.399C>G	c.(397-399)atC>atG	p.I133M	FUT3_ENST00000589918.1_Missense_Mutation_p.I133M|FUT3_ENST00000458379.2_Missense_Mutation_p.I133M|FUT3_ENST00000589620.1_Missense_Mutation_p.I133M	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	133					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGTTGAACCAGATCCAGCGCT	0.587000													13	26					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28483901	28483901	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:28483901G>A	ENST00000261609.7	-	24	3703	c.3595C>T	c.(3595-3597)Cag>Tag	p.Q1199*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1199					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTACAGTTCTGACCTGTAAAA	0.373000													9	58					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202569889	202569889	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:202569889G>A	ENST00000264276.6	-	31	5033	c.4661C>T	c.(4660-4662)tCa>tTa	p.S1554L	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1554	VPS9.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTCTACTGCTGAGGCAAAACA	0.358000													11	52					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160666508	160666508	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:160666508G>C	ENST00000366952.1	-	8	2445	c.964C>G	c.(964-966)Cag>Gag	p.Q322E	SLC22A2_ENST00000366953.3_Missense_Mutation_p.Q343E|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	343					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TTCCTTATCTGAGGAGTTCTG	0.368000													7	28					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80391584	80391584	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:80391584C>T	ENST00000337014.6	+	5	807	c.333C>T	c.(331-333)ttC>ttT	p.F111F	HEXDC_ENST00000577944.1_Silent_p.F111F|HEXDC_ENST00000327949.9_Silent_p.F111F	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	111					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGGGCTCCTTCCCCTGCACCC	0.662000													9	51					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33534596	33534596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:33534596C>T	ENST00000404816.2	+	23	3930	c.3577C>T	c.(3577-3579)Cag>Tag	p.Q1193*	LTBP1_ENST00000390003.4_Nonsense_Mutation_p.Q868*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.Q867*|LTBP1_ENST00000272273.5_Nonsense_Mutation_p.Q133*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.Q814*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.Q814*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.Q1194*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.Q867*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1193	EGF-like 11; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGATGGATTTCAGCTAGATGA	0.388000													22	85					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74639256	74639256	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr18:74639256G>A	ENST00000253159.8	+	24	4389	c.4191G>A	c.(4189-4191)caG>caA	p.Q1397Q	ZNF236_ENST00000320610.9_Silent_p.Q1399Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1397					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTCTGCAGCAGACGCTACAGC	0.537000													18	46					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	199011554	199011554	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:199011554G>T	ENST00000428675.1	+	6	3554	c.3156G>T	c.(3154-3156)atG>atT	p.M1052I	PLCL1_ENST00000437704.2_Missense_Mutation_p.M954I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1052					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TAGAAAACATGAAGCAGATCC	0.502000													11	56					0.00829132	0.00843185	1	1	0
GNA13	10672	broad.mit.edu	37	17	63010910	63010910	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:63010910C>T	ENST00000439174.2	-	4	844	c.599G>A	c.(598-600)aGa>aAa	p.R200K	GNA13_ENST00000541118.1_Missense_Mutation_p.R105K	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	200					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	p.R200K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GGTGGGTCTTCTGGCAAGCAG	0.358000													16	33					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43413105	43413105	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:43413105A>G	ENST00000039989.4	+	4	524	c.510A>G	c.(508-510)atA>atG	p.I170M	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.I170M	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	170							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CATATAGTATACATGCTTTTC	0.358000													7	29					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90145032	90145032	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:90145032C>G	ENST00000268138.7	+	12	2497	c.2392C>G	c.(2392-2394)Cag>Gag	p.Q798E	TICRR_ENST00000560985.1_Missense_Mutation_p.Q797E					TOPBP1-interacting checkpoint and replication regulator																		TGTGATTCCTCAGAAGCTGGC	0.423000													22	51					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128607356	128607356	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:128607356C>T	ENST00000393245.1	-	21	3164	c.2791G>A	c.(2791-2793)Gac>Aac	p.D931N	TNPO3_ENST00000471166.1_Missense_Mutation_p.D931N|TNPO3_ENST00000482320.1_Missense_Mutation_p.D831N|TNPO3_ENST00000471234.1_Missense_Mutation_p.D833N|TNPO3_ENST00000265388.5_Missense_Mutation_p.D897N	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	897					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TTGTGGAAGTCTGTAAGTTGT	0.433000													22	66					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76502881	76502881	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:76502881C>T	ENST00000389840.5	-	30	4836	c.4712G>A	c.(4711-4713)aGa>aAa	p.R1571K	DNAH17_ENST00000585328.1_Missense_Mutation_p.R1572K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAAAGCCAGTCTTTTCGTCTC	0.547000													15	50					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117093939	117093939	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:117093939C>G	ENST00000320934.3	-	9	1770	c.1140G>C	c.(1138-1140)aaG>aaC	p.K380N	PCSK7_ENST00000540028.1_Missense_Mutation_p.K21N	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	380	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TCCGAAGCATCTTGTCCCCAC	0.582000			T	IGH@	MLCLS								14	45					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120279737	120279737	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:120279737G>C	ENST00000369407.3	+	7	2198	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	PHGDH_ENST00000369409.4_Splice_Site_p.E265Q			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	265					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	TTCTGGGCAGGAGCCGCCACG	0.622000													9	43					0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32260946	32260946	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:32260946C>G	ENST00000375015.4	-	26	1701	c.1501G>C	c.(1501-1503)Gaa>Caa	p.E501Q	C6orf10_ENST00000447241.2_Missense_Mutation_p.E502Q|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000527965.1_Missense_Mutation_p.E486Q|C6orf10_ENST00000375007.4_Missense_Mutation_p.E500Q|C6orf10_ENST00000533191.1_Missense_Mutation_p.E500Q			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	502	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ctctccttttctttatcatta	0.363000													13	45					0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173776540	173776540	+	Silent	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:173776540G>C	ENST00000356198.2	-	4	570	c.285C>G	c.(283-285)ctC>ctG	p.L95L	CENPL_ENST00000367710.3_Silent_p.L95L|CENPL_ENST00000345664.6_Silent_p.L95L	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	95					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						TAAAAGCATTGAGAAGTCTAG	0.343000													22	104					0	0	1	0	0
C4orf3	401152	broad.mit.edu	37	4	120221638	120221638	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:120221638C>T	ENST00000399075.4	-	2	451	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	C4orf3_ENST00000504110.1_Missense_Mutation_p.R18Q	NM_001170330.1	NP_001163801.1	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	18						integral to membrane		p.R151P(1)|p.R151Q(1)		breast(1)|large_intestine(1)|lung(4)	6						GCTAAAGCCTCGCCGCTCCCG	0.567000													21	48					0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25826113	25826113	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr13:25826113C>T	ENST00000381801.5	-	12	2117	c.1356G>A	c.(1354-1356)gaG>gaA	p.E452E	MTMR6_ENST00000540661.1_Silent_p.E452E	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	452	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		AATAAGTCTTCTCCTTCAACC	0.358000													51	179					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	193049178	193049178	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:193049178G>T	ENST00000409056.3	-	3	313	c.314C>A	c.(313-315)tCc>tAc	p.S105Y	TMEFF2_ENST00000272771.5_Missense_Mutation_p.S105Y|TMEFF2_ENST00000392314.1_Missense_Mutation_p.S105Y			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	105	Kazal-like 1.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CTCCCCATTGGAGCCACACAC	0.483000													7	41					0.000442599	0.000455245	1	1	0
RBM15	64783	broad.mit.edu	37	1	110882504	110882504	+	Silent	SNP	A	A	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:110882504A>G	ENST00000369784.3	+	1	1377	c.477A>G	c.(475-477)tcA>tcG	p.S159S	RBM15_ENST00000487146.2_Silent_p.S159S|RBM15_ENST00000602849.1_Silent_p.S159S	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	159	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCGCCTCCTCAGCTCCCGGCG	0.647000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	48					0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95125301	95125301	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:95125301G>A	ENST00000325885.5	+	2	490	c.419G>A	c.(418-420)gGa>gAa	p.G140E	ASB4_ENST00000428113.1_Missense_Mutation_p.G140E|ASB4_ENST00000257621.4_3'UTR	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	140					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TCCTTAAGTGGACACACAGCT	0.473000													14	68					0	0	1	0	0
C18orf32	497661	broad.mit.edu	37	18	47010040	47010040	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr18:47010040G>C	ENST00000318240.3	-	2	290	c.79C>G	c.(79-81)Ctg>Gtg	p.L27V	C18orf32_ENST00000579820.1_Missense_Mutation_p.L27V|C18orf32_ENST00000582392.1_Missense_Mutation_p.L27V|RPL17-C18orf32_ENST00000584895.1_Silent_p.L203L|RPL17-C18orf32_ENST00000332968.6_Silent_p.L165L	NM_001035005.3	NP_001030177.1	Q8TCD1	CR032_HUMAN	chromosome 18 open reading frame 32	27					positive regulation of I-kappaB kinase/NF-kappaB cascade		signal transducer activity			large_intestine(2)|lung(1)	3						GGGGAAACCAGAGGGTATATA	0.403000													26	86					0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3638708	3638708	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:3638708G>C	ENST00000378295.4	+	5	708	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	TP73_ENST00000378290.4_Missense_Mutation_p.E114Q|TP73_ENST00000604479.1_Missense_Mutation_p.E185Q|TP73_ENST00000378288.4_Missense_Mutation_p.E136Q|TP73_ENST00000346387.4_Missense_Mutation_p.E185Q|TP73_ENST00000378285.1_Missense_Mutation_p.E136Q|TP73_ENST00000603362.1_Missense_Mutation_p.E185Q|TP73_ENST00000378280.1_Missense_Mutation_p.E136Q|TP73_ENST00000354437.4_Missense_Mutation_p.E185Q|TP73_ENST00000357733.3_Missense_Mutation_p.E185Q|TP73_ENST00000604074.1_Missense_Mutation_p.E185Q	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	185	DNA-binding (Potential).				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CAAGAAAGCGGAGCACGTGAC	0.637000													12	27					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153915470	153915470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:153915470C>T	ENST00000361217.4	-	3	872	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	152	MABP.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGCCCCCTCTGCTGCCCGC	0.662000													11	36					0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7043792	7043792	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:7043792C>G	ENST00000310085.4	-	1	936	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	292										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TTCAGCTCCTCCAGCATGCCC	0.647000													20	94					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031416	109031416	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:109031416C>T	ENST00000478945.1	-	3	403	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	53						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTAGGCTTCTCCAGTTTGACA	0.413000													27	149					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947804	237947804	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:237947804G>A	ENST00000366574.2	+	90	13109	c.12792G>A	c.(12790-12792)ctG>ctA	p.L4264L	RYR2_ENST00000360064.6_Silent_p.L4270L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.L4248L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4264					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAAGAGCCTGAAGAAGCAGA	0.473000													8	18					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52744229	52744229	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:52744229G>A	ENST00000287727.3	+	9	2984	c.2812G>A	c.(2812-2814)Gac>Aac	p.D938N	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D879N|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D938N			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	938					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGGTGGCCCTGACCCACTTGT	0.323000													19	103					0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110018297	110018297	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:110018297C>T	ENST00000369872.3	+	3	440	c.224C>T	c.(223-225)tCc>tTc	p.S75F	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Missense_Mutation_p.S75F	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	75	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GACGTGAGCTCCATCATCGTT	0.532000													15	60					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632253	111632253	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:111632253G>A	ENST00000431670.2	+	3	1834	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	PHLDB2_ENST00000393925.3_Missense_Mutation_p.D475N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.D475N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.D502N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D475N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.D475N|PHLDB2_ENST00000495180.1_Missense_Mutation_p.D61N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	475						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CACCGTGGAAGATGTGCAGAA	0.517000													19	156					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6434074	6434074	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:6434074C>T	ENST00000276893.5	+	3	713	c.545C>T	c.(544-546)tCc>tTc	p.S182F	RP11-307L3.4_ENST00000411561.1_RNA	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	182					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AAGCATAAATCCAAAGAGAAC	0.388000													6	36					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79267412	79267412	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:79267412C>T	ENST00000428286.1	-	11	8667	c.7467G>A	c.(7465-7467)gaG>gaA	p.E2489E	PRUNE2_ENST00000223609.6_Silent_p.E112E|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Silent_p.E97E|PRUNE2_ENST00000376718.3_Silent_p.E2848E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2848					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGCCAGTGTACTCAAAAGAAT	0.393000													30	131					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36634674	36634674	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr20:36634674C>T	ENST00000373448.2	-	4	2666	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	TTI1_ENST00000449821.1_Missense_Mutation_p.E810K|TTI1_ENST00000373447.3_Missense_Mutation_p.E810K	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	810							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAAAACTGTTCGATGTCTTCA	0.433000													31	163					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409593	159409593	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:159409593G>A	ENST00000423932.3	+	1	82	c.45G>A	c.(43-45)gaG>gaA	p.E15E	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	15					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGAAAAGAGAGAACTTTACTC	0.383000													38	56					0	0	1	0	0
PEX11B	8799	broad.mit.edu	37	1	145522727	145522727	+	Silent	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:145522727C>G	ENST00000369306.3	+	4	737	c.588C>G	c.(586-588)ctC>ctG	p.L196L	PEX11B_ENST00000537888.1_Silent_p.L182L	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	196					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGTCCTGCTCCTGGCTCGAG	0.577000													18	66					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7014909	7014909	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:7014909G>C	ENST00000007969.8	+	2	332	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	LRRC23_ENST00000433346.1_Missense_Mutation_p.E38Q|LRRC23_ENST00000436789.1_Missense_Mutation_p.E38Q|LRRC23_ENST00000323702.5_Missense_Mutation_p.E38Q|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000443597.2_Missense_Mutation_p.E38Q|LRRC23_ENST00000429740.1_Missense_Mutation_p.E38Q	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	38										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						agagggggaagagTTCCCTGA	0.547000													7	24					0	0	1	0	0
NPS	594857	broad.mit.edu	37	10	129350743	129350743	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr10:129350743A>G	ENST00000398023.1	+	3	130	c.110A>G	c.(109-111)tAc>tGc	p.Y37C		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	37					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AAATCTGATTACTTTCTCATT	0.388000													82	153					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207753875	207753875	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:207753875C>T	ENST00000367049.4	+	31	5133	c.5133C>T	c.(5131-5133)ttC>ttT	p.F1711F	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Silent_p.F1261F|CR1_ENST00000400960.2_Silent_p.F1261F|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Silent_p.F1261F|CR1_ENST00000367051.1_Silent_p.F1261F	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1261	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTGATGACTTCTTGGGTCAAC	0.433000													46	140					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15758387	15758387	+	Missense_Mutation	SNP	G	G	C	rs146515867		TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:15758387G>C	ENST00000381341.2	+	17	1588	c.1199G>C	c.(1198-1200)aGa>aCa	p.R400T	DDX1_ENST00000233084.3_Missense_Mutation_p.R400T			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	400	Helicase ATP-binding.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	p.R400T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GATGGAAAAAGACTTCAGGTA	0.368000													31	48					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616380	140616380	+	RNA	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:140616380G>A	ENST00000526308.1	+	0	2443					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CTACCAGTACGAGGTGTGTCT	0.617000													24	60					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52779186	52779186	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:52779186A>T	ENST00000257951.3	-	1	250	c.184T>A	c.(184-186)Tca>Aca	p.S62T	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	62	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCCGGGGTGAGTACGATCCA	0.587000													10	33					0	0	1	0	0
FAM86B3P	286042	broad.mit.edu	37	8	8095843	8095843	+	RNA	SNP	C	C	T	rs62495078		TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:8095843C>T	ENST00000523017.1	-	0	608																											GAAGAGCAGACACTGCCATGG	0.602000													3	15					0	0	1	0	0
KLHL35	283212	broad.mit.edu	37	11	75139664	75139664	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:75139664C>T	ENST00000539798.1	-	2	888	c.889G>A	c.(889-891)Gac>Aac	p.D297N	KLHL35_ENST00000376292.4_Missense_Mutation_p.D77N	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	77										lung(2)|stomach(1)	3						TCAGCTAGGTCCATGAATCTG	0.622000													8	23					0	0	1	0	0
PRKRA	8575	broad.mit.edu	37	2	179308099	179308099	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:179308099G>T	ENST00000325748.4	-	5	609	c.409C>A	c.(409-411)Cat>Aat	p.H137N	PRKRA_ENST00000432031.2_Missense_Mutation_p.H126N|PRKRA_ENST00000438687.3_Missense_Mutation_p.H24N|PRKRA_ENST00000487082.1_Missense_Mutation_p.H112N	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	137	DRBM 2.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			CAGCCATGATGAATAGCCAAT	0.368000													9	46					1.08611e-07	1.1455e-07	1	1	0
RGS22	26166	broad.mit.edu	37	8	101084455	101084455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:101084455G>A	ENST00000360863.6	-	5	537	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Missense_Mutation_p.L115F	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	115					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCACGACTGAGACACTATGAG	0.358000													15	48					0	0	1	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30314535	30314535	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:30314535C>G	ENST00000513556.1	+	10	1196	c.1196C>G	c.(1195-1197)tCa>tGa	p.S399*	RPP21_ENST00000433076.2_Nonsense_Mutation_p.S146*|RPP21_ENST00000442966.2_Nonsense_Mutation_p.S138*|RPP21_ENST00000428040.2_Nonsense_Mutation_p.S161*|RPP21_ENST00000436442.2_Missense_Mutation_p.F140L	NM_001199119.1	NP_001186048.1	A6ZJ12	A6ZJ12_HUMAN		399						intracellular	zinc ion binding										CACTCCATTTCAGACCGCCTT	0.428000													21	60					0	0	1	0	0
TRAJ38	28717	broad.mit.edu	37	14	22971263	22971263	+	RNA	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:22971263G>C	ENST00000390499.1	+	0	49																											GAACAAGCCTGGCAGTAAATC	0.448000													8	51					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35333784	35333784	+	Silent	SNP	T	T	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr10:35333784T>A	ENST00000374748.1	-	8	832	c.519A>T	c.(517-519)ggA>ggT	p.G173G	CUL2_ENST00000374742.1_Silent_p.G173G|CUL2_ENST00000602371.1_Silent_p.G116G|CUL2_ENST00000374749.3_Silent_p.G173G|CUL2_ENST00000537177.1_Silent_p.G192G|CUL2_ENST00000374751.3_Silent_p.G173G|CUL2_ENST00000374746.1_Silent_p.G173G			Q13617	CUL2_HUMAN	cullin 2	173					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTGGGTCTTCTCCACCACGAT	0.338000													22	22					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166574	140166574	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:140166574C>T	ENST00000504120.2	+	1	699	c.699C>T	c.(697-699)ctC>ctT	p.L233L	PCDHA1_ENST00000394633.3_Silent_p.L233L|PCDHA1_ENST00000378133.3_Silent_p.L233L	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCGTCCTCGACGTTAATG	0.473000													13	26					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33568475	33568475	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr20:33568475G>A	ENST00000262873.7	+	6	655	c.563G>A	c.(562-564)cGc>cAc	p.R188H	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	146	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGAAAGCGCCGCTCAGATTCC	0.592000													28	117					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25327956	25327956	+	RNA	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:25327956G>T	ENST00000546682.1	+	0	188				SNORD116-16_ENST00000384533.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TTGGAAAGCTGAACAAAATGA	0.453000													50	235					7.77372e-23	8.51483e-23	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30744967	30744967	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:30744967C>T	ENST00000262518.4	+	29	6727	c.6342C>T	c.(6340-6342)ttC>ttT	p.F2114F	SRCAP_ENST00000395059.2_Silent_p.F2052F|SRCAP_ENST00000344771.4_Silent_p.F1956F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2114	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TATTCTGCTTCATCCTTTCAA	0.488000													12	60					0	0	1	0	0
RPL10A	4736	broad.mit.edu	37	6	35438389	35438389	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:35438389G>A	ENST00000322203.6	+	6	543	c.516G>A	c.(514-516)gtG>gtA	p.V172V	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	172					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						TTGGTCACGTGAAGATGACAG	0.493000													14	44					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40293383	40293383	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:40293383G>C	ENST00000302541.6	+	16	2782	c.2440G>C	c.(2440-2442)Gag>Cag	p.E814Q	MYRIP_ENST00000425621.1_Missense_Mutation_p.E749Q|MYRIP_ENST00000539167.1_Missense_Mutation_p.E627Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.E725Q|MYRIP_ENST00000444716.1_Missense_Mutation_p.E814Q	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	814	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGAAAAAATTGAGACATCTTC	0.383000													8	27					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155265067	155265067	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:155265067C>T	ENST00000392414.3	-	5	554	c.441G>A	c.(439-441)gtG>gtA	p.V147V	PKLR_ENST00000342741.4_Silent_p.V178V	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	178					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GGGAGCCCTTCACCAGCTCCA	0.672000													26	114					0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62913167	62913167	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:62913167G>C	ENST00000339950.4	+	7	2220	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	USP1_ENST00000371146.1_Missense_Mutation_p.E469Q	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	469					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TTCCAAAGTAGAGGAGAGTTC	0.358000													10	50					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39889022	39889022	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:39889022G>A	ENST00000393939.2	-	2	507	c.498C>T	c.(496-498)gtC>gtT	p.V166V	HAP1_ENST00000341193.5_Silent_p.V166V|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Silent_p.V166V|HAP1_ENST00000347901.4_Silent_p.V166V			P54257	HAP1_HUMAN	huntingtin-associated protein 1	166	HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGATCTTTTTGACTGGCGGAG	0.522000													15	48					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100382173	100382173	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:100382173G>T	ENST00000294724.4	+	33	4845	c.4367G>T	c.(4366-4368)gGg>gTg	p.G1456V	AGL_ENST00000370165.3_Missense_Mutation_p.G1456V|AGL_ENST00000361915.3_Missense_Mutation_p.G1456V|AGL_ENST00000370163.3_Missense_Mutation_p.G1456V|AGL_ENST00000370161.2_Missense_Mutation_p.G1440V|AGL_ENST00000361302.3_Missense_Mutation_p.G1440V|AGL_ENST00000361522.4_Missense_Mutation_p.G1439V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1456					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)		TGGCCTATTGGGTATTTTCTT	0.308000													4	45					1.23904e-05	1.29667e-05	1	1	0
USP34	9736	broad.mit.edu	37	2	61455988	61455988	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:61455988C>T	ENST00000398571.2	-	60	7418	c.7342G>A	c.(7342-7344)Gaa>Aaa	p.E2448K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2448					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTTGCAAATTCGTAAAGGAAG	0.328000													13	72					0	0	1	0	0
FAM150B	285016	broad.mit.edu	37	2	286344	286344	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:286344C>G	ENST00000403610.4	-	3	594		c.e3-1		FAM150B_ENST00000401503.1_Splice_Site|FAM150B_ENST00000405290.1_Splice_Site|FAM150B_ENST00000344414.5_Splice_Site	NM_001002919.2	NP_001002919.2	Q6UX46	F150B_HUMAN	family with sequence similarity 150, member B							extracellular region				breast(1)|kidney(2)	3	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.00091)|Epithelial(75;0.00656)|OV - Ovarian serous cystadenocarcinoma(76;0.00954)|GBM - Glioblastoma multiforme(21;0.128)		GGAACAATTTCTGTTTCAGGG	0.383000													8	44					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102154988	102154988	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:102154988C>T	ENST00000299314.7	-	15	3314	c.3052G>A	c.(3052-3054)Gat>Aat	p.D1018N		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1018	EF-hand.				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TGATCTGTATCAACTTCATCA	0.408000													15	58					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145525095	145525095	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:145525095C>G	ENST00000369304.3	+	1	205	c.30C>G	c.(28-30)ttC>ttG	p.F10L	ITGA10_ENST00000538811.1_5'UTR|ITGA10_ENST00000539363.1_Missense_Mutation_p.F10L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	10					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCACCTGTTCTTGCCCCTGG	0.473000											OREG0013749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	60					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121708921	121708921	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:121708921C>T	ENST00000452319.1	+	4	417	c.357C>T	c.(355-357)caC>caT	p.H119H	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Silent_p.H119H			P10070	GLI2_HUMAN	GLI family zinc finger 2	119					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACGCCCCCCACCCGTACGTGA	0.667000													14	69					0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206791	49206791	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:49206791G>T	ENST00000425340.2	+	2	695	c.578G>T	c.(577-579)gGc>gTc	p.G193V	FUT2_ENST00000391876.4_Missense_Mutation_p.G193V	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	193					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		AGCCGGCCGGGCACCTTTGTA	0.652000													31	40					2.61193e-14	2.83222e-14	1	1	0
SEMA4C	54910	broad.mit.edu	37	2	97530979	97530979	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:97530979T>C	ENST00000305476.5	-	7	728	c.596A>G	c.(595-597)cAc>cGc	p.H199R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	199	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CTTCATGGAGTGGTGGGGCCC	0.627000													17	30					0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39421157	39421157	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:39421157G>T	ENST00000221431.6	-	1	379	c.220C>A	c.(220-222)Ctg>Atg	p.L74M	CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.L74M|SARS2_ENST00000600042.1_Missense_Mutation_p.L74M|SARS2_ENST00000448145.2_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	74					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGGAGCTCCAGGGCGTGTGCG	0.677000											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	114					0.150653	0.150933	1	1	0
DDX41	51428	broad.mit.edu	37	5	176943129	176943129	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:176943129C>G	ENST00000507955.1	-	4	887	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	122					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	p.E122K(1)				all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCTCGGCCCTCGGCAACACTC	0.522000													32	75					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52280243	52280243	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:52280243C>G	ENST00000354831.7	-	15	1992	c.1803G>C	c.(1801-1803)caG>caC	p.Q601H	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.Q401H|NRD1_ENST00000352171.7_Missense_Mutation_p.Q533H|NRD1_ENST00000539524.1_Missense_Mutation_p.Q469H	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	532					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GGCCTAGCTTCTGCAGCATTT	0.398000													18	125					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907342	164907342	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:164907342G>C	ENST00000475390.1	-	2	1720	c.1277C>G	c.(1276-1278)tCt>tGt	p.S426C	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S426C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	426						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAAAAATCAGAACGGTATAT	0.388000										HNSCC(40;0.11)			4	69					0	0	1	0	0
RNF19B	127544	broad.mit.edu	37	1	33412160	33412160	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:33412160G>A	ENST00000356990.5	-	4	988	c.989C>T	c.(988-990)tCt>tTt	p.S330F	RNF19B_ENST00000235150.4_Missense_Mutation_p.S330F|RNF19B_ENST00000373456.7_Missense_Mutation_p.S331F	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	331						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGTACAGCCAGAGGGGCTGCA	0.453000													4	22					0	0	1	0	0
ANKRD49	54851	broad.mit.edu	37	11	94230228	94230228	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:94230228G>A	ENST00000544253.1	+	2	487	c.369G>A	c.(367-369)agG>agA	p.R123R	ANKRD49_ENST00000540349.1_Silent_p.R123R|ANKRD49_ENST00000544612.1_Intron|ANKRD49_ENST00000302755.4_Intron			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	0					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				tgattgtgaggaccaaatgag	0.388000													5	24					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157183310	157183310	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:157183310G>A	ENST00000339562.4	-	6	1643	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	NR4A2_ENST00000426264.1_Silent_p.F364F|NR4A2_ENST00000409572.1_Silent_p.F427F|NR4A2_ENST00000409108.2_Silent_p.F427F|NR4A2_ENST00000539077.1_Silent_p.F438F|NR4A2_ENST00000429376.1_Silent_p.F364F	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	427	Ligand-binding (Potential).				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GCAGGTCTGCGAAGCCAGGGA	0.502000													27	177					0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	11988625	11988625	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:11988625C>A	ENST00000396505.2	-	6	787	c.549G>T	c.(547-549)gaG>gaT	p.E183D	DKK3_ENST00000326932.4_Missense_Mutation_p.E183D|DKK3_ENST00000450094.2_Missense_Mutation_p.E155D|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000525493.1_Missense_Mutation_p.E183D	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	183	DKK-type Cys-1.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CTCCACAGCACTCACTGTCCC	0.617000											OREG0020766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	25					8.10497e-08	8.56494e-08	1	1	0
HAP1	9001	broad.mit.edu	37	17	39888950	39888950	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:39888950G>C	ENST00000341193.5	-	2	579	c.570C>G	c.(568-570)atC>atG	p.I190M	HAP1_ENST00000393939.2_Intron|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Intron|HAP1_ENST00000347901.4_Intron	NM_001079870.1|NM_001079871.1	NP_001073339.1|NP_001073340.1	P54257	HAP1_HUMAN	huntingtin-associated protein 1	183	HAP1 N-terminal.			Missing (in Ref. 6; CAB82785).	brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GGCTTGCCTGGATCAGGAAGG	0.498000													16	52					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20619267	20619267	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:20619267G>C	ENST00000504154.1	+	36	4594	c.4342G>C	c.(4342-4344)Gat>Cat	p.D1448H	SLIT2_ENST00000503837.1_Missense_Mutation_p.D1444H|SLIT2_ENST00000273739.5_Missense_Mutation_p.D1461H|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1440H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1448					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGACAGCTGTGATCGAGGTAA	0.527000													3	12					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34640862	34640862	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:34640862C>G	ENST00000537011.1	+	3	1175	c.793C>G	c.(793-795)Ctt>Gtt	p.L265V	NUTM1_ENST00000333756.4_Missense_Mutation_p.L237V|NUTM1_ENST00000438749.3_Missense_Mutation_p.L255V	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		CACAGAAGCTCTTTCCTGTTT	0.453000													9	47					0	0	1	0	0
CYP1B1	1545	broad.mit.edu	37	2	38301701	38301701	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:38301701C>G	ENST00000260630.3	-	2	1232	c.831G>C	c.(829-831)ttG>ttC	p.L277F	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Missense_Mutation_p.L277F	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	277					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	CGCAGTGCCTCAAGAACTTGT	0.622000													3	8					0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49011238	49011238	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:49011238C>G	ENST00000356401.4	+	9	1216	c.877C>G	c.(877-879)Cac>Gac	p.H293D	ARIH2_ENST00000449376.1_Missense_Mutation_p.H293D|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	293					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CATTAGTGCTCACACTAAAGA	0.502000													11	29					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26802583	26802583	+	Missense_Mutation	SNP	C	C	A	rs151148433	byFrequency	TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr10:26802583C>A	ENST00000376236.4	+	8	1262	c.807C>A	c.(805-807)aaC>aaA	p.N269K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	269					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TATTTAAAAACCCCCAGGTAA	0.348000													27	98					6.04164e-23	6.63107e-23	1	1	0
BRINP2	57795	broad.mit.edu	37	1	177247811	177247811	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:177247811G>A	ENST00000361539.4	+	7	1437	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	375																	ACCAGCAGCTGGGAGCTGGCT	0.602000													24	134					0	0	1	0	0
CWC15	51503	broad.mit.edu	37	11	94704641	94704641	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:94704641G>C	ENST00000279839.6	-	3	264	c.142C>G	c.(142-144)Cag>Gag	p.Q48E	CWC15_ENST00000545018.1_5'UTR	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein homolog (S. cerevisiae)	48					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGGGCATCCTGAGTAGTCTGT	0.448000													3	10					0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32492516	32492516	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:32492516C>T	ENST00000379882.1	-	3	466	c.309G>A	c.(307-309)atG>atA	p.M103I	DDX58_ENST00000379868.1_Intron|DDX58_ENST00000379883.2_Missense_Mutation_p.M148I|DDX58_ENST00000542096.1_Missense_Mutation_p.M77I|DDX58_ENST00000545044.1_Intron			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	148	CARD 2.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CACCTGCCATCATCCCCTTAG	0.373000													22	73					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88367516	88367516	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:88367516G>A	ENST00000419482.2	+	1	218	c.133G>A	c.(133-135)Gac>Aac	p.D45N	SMYD1_ENST00000444564.2_Missense_Mutation_p.D45N|SMYD1_ENST00000438570.1_Missense_Mutation_p.D45N	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGTGGTTTTTGACAGGTATGA	0.493000													20	65					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160287552	160287552	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:160287552C>T	ENST00000392783.2	-	10	2511	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	BAZ2B_ENST00000355831.2_Silent_p.L672L|BAZ2B_ENST00000392782.1_Silent_p.L670L|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTGTTTTATTCAGTTTCATTG	0.423000													6	75					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			42	135					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39512382	39512382	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:39512382C>G	ENST00000287152.7	-	12	1469	c.1375G>C	c.(1375-1377)Gaa>Caa	p.E459Q	KIF6_ENST00000373215.3_Missense_Mutation_p.E459Q|KIF6_ENST00000373216.3_Missense_Mutation_p.E459Q|KIF6_ENST00000373213.4_Missense_Mutation_p.E298Q|KIF6_ENST00000538893.1_Missense_Mutation_p.E459Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	459					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTATATTCTTCTTCTTTTAAT	0.338000													12	45					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606563	84606563	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:84606563A>T	ENST00000344803.2	+	4	1225	c.1178A>T	c.(1177-1179)cAc>cTc	p.H393L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TTAGGGGGGCACTCTGTGGCC	0.468000													20	8					0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100087946	100087946	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:100087946C>G	ENST00000284320.5	-	10	1934	c.1486G>C	c.(1486-1488)Gat>Cat	p.D496H		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	496					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TACATTTCATCAGCTTTACCA	0.308000													16	59					0	0	1	0	0
TRAV24	28659	broad.mit.edu	37	14	22574004	22574004	+	RNA	SNP	A	A	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:22574004A>T	ENST00000390453.1	+	0	224																											ATGACTTTAAATGGGGATGAA	0.438000													4	3					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92472344	92472344	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:92472344G>A	ENST00000267622.4	-	11	2349	c.1976C>T	c.(1975-1977)tCa>tTa	p.S659L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	659					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCTAATTCTGAAAGATTTTG	0.303000			T	PDGFRB	AML								11	29					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34091601	34091601	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr20:34091601C>A	ENST00000397527.1	+	30	6124	c.5404C>A	c.(5404-5406)Cag>Aag	p.Q1802K	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1746K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1802	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGTCACTTCAGAGTCAACT	0.607000													11	56					1.58986e-06	1.67354e-06	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140969484	140969484	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chrX:140969484C>T	ENST00000298296.1	+	4	811	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	271	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGCATGCCCCAGAACCG	0.498000													4	112					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62326724	62326724	+	Silent	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr20:62326724C>A	ENST00000318100.4	+	34	4370	c.3543C>A	c.(3541-3543)atC>atA	p.I1181I	RTEL1_ENST00000370003.1_Silent_p.I426I|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.I1181I|RTEL1_ENST00000508582.2_Silent_p.I1205I|RTEL1_ENST00000370018.3_Silent_p.I1181I|RTEL1_ENST00000360203.5_Silent_p.I1181I	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	1181					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	p.I1181I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGAGCAAGATCTCGTCCTTCC	0.652000													23	146					2.89027e-11	3.10287e-11	1	1	0
PTPLAD2	401494	broad.mit.edu	37	9	21007098	21007098	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:21007098G>A	ENST00000495827.2	-	7	682	c.637C>T	c.(637-639)Cat>Tat	p.H213Y	PTPLAD2_ENST00000513293.2_Missense_Mutation_p.H213Y	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2						fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		GAGTATAGATGACTGTAGGTA	0.348000													12	44					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696318	153696318	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chrX:153696318C>G	ENST00000369682.3	+	21	3969	c.3794C>G	c.(3793-3795)tCc>tGc	p.S1265C		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1265					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACCTGGAGTCCCGTGTGGCC	0.647000													12	22					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18457502	18457502	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:18457502T>C	ENST00000338745.6	-	4	2246	c.512A>G	c.(511-513)cAc>cGc	p.H171R	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.H171R|SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Missense_Mutation_p.H171R	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	171	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GACTCACCTGTGTAACTGAAT	0.398000													30	98					0	0	1	0	0
ZNF446	55663	broad.mit.edu	37	19	58991884	58991884	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:58991884C>G	ENST00000596341.1	+	7	3211	c.991C>G	c.(991-993)Ccg>Gcg	p.P331A	ZNF446_ENST00000335841.4_3'UTR|ZNF446_ENST00000594369.1_Missense_Mutation_p.P382A			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	382	Pro-rich.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GGTGGCCTTTCCGCACCACCC	0.657000													6	39					0	0	1	0	0
FHL2	2274	broad.mit.edu	37	2	105984105	105984105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:105984105G>A	ENST00000336660.5	-	3	368	c.248C>T	c.(247-249)tCa>tTa	p.S83L	FHL2_ENST00000393352.3_Silent_p.F141F|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000393353.3_Silent_p.F141F|FHL2_ENST00000358129.4_Silent_p.F141F|FHL2_ENST00000322142.8_Silent_p.F141F|FHL2_ENST00000409807.1_Silent_p.F141F|FHL2_ENST00000409177.1_Silent_p.F257F|FHL2_ENST00000408995.1_Silent_p.F141F|FHL2_ENST00000344213.4_Silent_p.F251F			Q14192	FHL2_HUMAN	four and a half LIM domains 2	0	LIM zinc-binding 1.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						CTTTGGGGATGAAACTCTTGG	0.517000													28	133					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125874320	125874320	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:125874320C>G	ENST00000393434.2	-	5	904	c.555G>C	c.(553-555)gaG>gaC	p.E185D	ALDH1L1_ENST00000393431.2_Missense_Mutation_p.E185D|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E185D|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.E10D|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E195D	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	185	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGGCTTTGCCCTCAGCGATCA	0.622000													24	32					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65888148	65888148	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:65888148G>C	ENST00000321892.4	+	7	2492	c.2431G>C	c.(2431-2433)Gag>Cag	p.E811Q	BPTF_ENST00000424123.3_Missense_Mutation_p.E672Q|BPTF_ENST00000335221.5_Missense_Mutation_p.E811Q|BPTF_ENST00000306378.6_Missense_Mutation_p.E685Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	811					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGAGGGCAAAGAGGTGTGTTC	0.388000													4	24					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140069557	140069557	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:140069557G>A	ENST00000323927.2	-	13	2310	c.2306C>T	c.(2305-2307)tCa>tTa	p.S769L	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	769					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ACGATCCAGTGAGAGGCTCTC	0.622000													10	7					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6632165	6632165	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:6632165C>A	ENST00000315579.5	+	16	2925	c.2126C>A	c.(2125-2127)gCc>gAc	p.A709D	NCAPD2_ENST00000545962.1_Missense_Mutation_p.A664D	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	709					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGGGACTCTGCCAGGTATATG	0.547000													8	24					0.000157383	0.000163436	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105410874	105410874	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:105410874G>C	ENST00000333244.5	-	7	11033	c.10914C>G	c.(10912-10914)ttC>ttG	p.F3638L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3638						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGCATTTTGAACTTGCTGT	0.592000													43	174					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118931411	118931411	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:118931411G>A	ENST00000483209.1	-	8	1661	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	B4GALT4_ENST00000467604.1_3'UTR|B4GALT4_ENST00000359213.3_Silent_p.F340F|B4GALT4_ENST00000393765.2_Silent_p.F340F|B4GALT4_ENST00000471675.1_Intron			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	340					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CACCAAACCAGAAATCCACTG	0.383000													9	105					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55241683	55241683	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:55241683G>A	ENST00000275493.2	+	18	2308	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.E658K|EGFR_ENST00000455089.1_Missense_Mutation_p.E666K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	711					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E711K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAAGGAAACTGAATTCAAAAA	0.562000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			23	78					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53383997	53383997	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:53383997C>G	ENST00000595635.1	-	8	1883	c.1382G>C	c.(1381-1383)aGa>aCa	p.R461T	ZNF320_ENST00000391781.2_Missense_Mutation_p.R461T|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		AGTATGGATTCTCTGATGCCT	0.413000													10	70					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44482747	44482747	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:44482747C>G	ENST00000360584.2	-	1	250	c.59G>C	c.(58-60)gGa>gCa	p.G20A	SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.G20A	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	20						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGCCACAGGTCCATGAGCCGC	0.672000													9	35					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118918694	118918694	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:118918694G>A	ENST00000404233.3	-	21	2599	c.2475C>T	c.(2473-2475)ctC>ctT	p.L825L	HYOU1_ENST00000525859.1_Silent_p.L763L|HYOU1_ENST00000529972.1_Silent_p.L763L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	825						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGAGATTATCGAGGGCAGACA	0.537000													12	31					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	110223129	110223129	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:110223129C>G	ENST00000399132.1	-	2	577	c.47G>C	c.(46-48)aGa>aCa	p.R16T	COL25A1_ENST00000399127.1_Missense_Mutation_p.R16T|COL25A1_ENST00000399126.1_Missense_Mutation_p.R16T	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	16						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GTCCTCGGATCTGGGCTCCCG	0.667000													13	25					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74204000	74204000	+	Splice_Site	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:74204000C>A	ENST00000286523.5	-	3	2232	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	ELMSAN1_ENST00000394071.2_Splice_Site_p.D484Y	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		CCACTGCCATCCTGGACAAGA	0.493000													4	14					0.00909568	0.00919788	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177936898	177936898	+	Silent	SNP	T	T	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:177936898T>C	ENST00000308284.6	-	2	308	c.219A>G	c.(217-219)gcA>gcG	p.A73A	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Silent_p.A73A	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	73	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTGGCCTGGATGCATAATGGG	0.552000													24	36					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47549168	47549168	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr21:47549168G>A	ENST00000357838.4	+	28	2602	c.2520G>A	c.(2518-2520)ccG>ccA	p.P840P	COL6A2_ENST00000397763.1_Silent_p.P840P|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	577	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AAGAGGGGCCGGACGCCACCT	0.677000													78	111					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16464492	16464492	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:16464492G>A	ENST00000358432.5	-	5	1322	c.1168C>T	c.(1168-1170)Cac>Tac	p.H390Y		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	390	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTCAGTCCGTGAGGAGGCTCC	0.637000													8	24					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113697758	113697758	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:113697758C>T	ENST00000295878.3	-	15	2553	c.2407G>A	c.(2407-2409)Gat>Aat	p.D803N	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	803										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TAAAATTGATCAGCCTGGGCC	0.448000													17	132					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99170350	99170350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:99170350G>A	ENST00000401707.2	+	16	3007	c.2926G>A	c.(2926-2928)Gtt>Att	p.V976I	POP1_ENST00000349693.3_Missense_Mutation_p.V976I	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	976					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTCCATGGCTGTTGGCTGTGG	0.577000													19	71					0	0	1	0	0
LHFPL2	10184	broad.mit.edu	37	5	77806001	77806001	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:77806001G>A	ENST00000380345.2	-	4	711	c.36C>T	c.(34-36)ctC>ctT	p.L12L	LHFPL2_ENST00000515007.2_Silent_p.L12L	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	12						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GCAAGGTCCAGAGCATCGAGC	0.537000													8	13					0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76740357	76740357	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:76740357G>C	ENST00000393262.3	-	2	1491	c.1408C>G	c.(1408-1410)Cag>Gag	p.Q470E		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	470					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ACTGTGTCCTGATAAGGCCTT	0.338000									Bardet-Biedl syndrome				29	71					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708479	37708479	+	Silent	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:37708479C>A	ENST00000539465.1	+	4	936	c.343C>A	c.(343-345)Cga>Aga	p.R115R	FRMPD1_ENST00000377765.3_Silent_p.R115R|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	115	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTCCTGGGAACGAGCAGTCGA	0.448000													26	46					4.43304e-23	4.87544e-23	1	1	0
ESYT1	23344	broad.mit.edu	37	12	56532789	56532789	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:56532789G>T	ENST00000394048.5	+	24	2848	c.2584G>T	c.(2584-2586)Gag>Tag	p.E862*	ESYT1_ENST00000541590.1_Nonsense_Mutation_p.E872*|ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000267113.4_Nonsense_Mutation_p.E872*	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	862	C2 4.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGAGAGCCTAGAGTTGCAGGT	0.468000													7	31					2.17888e-05	2.27581e-05	1	1	0
PLS1	5357	broad.mit.edu	37	3	142403177	142403177	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:142403177G>A	ENST00000337777.3	+	8	1041	c.828G>A	c.(826-828)gtG>gtA	p.V276V	PLS1_ENST00000457734.2_Silent_p.V276V|PLS1_ENST00000497002.1_Silent_p.V276V	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	276	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGCGATGGGTGAACTACCATC	0.423000													17	69					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65194253	65194253	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:65194253C>G	ENST00000381210.3	-	3	418	c.308G>C	c.(307-309)cGa>cCa	p.R103P	TECRL_ENST00000507440.1_Missense_Mutation_p.R103P	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	103					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAGACCAACTCGAGAAGGGTA	0.318000													15	48					0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24836864	24836864	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr22:24836864C>T	ENST00000337539.7	+	3	1105	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	ADORA2A_ENST00000496497.1_3'UTR|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	216					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GAGCCAGCCTCTGCCGGGGGA	0.632000													27	53					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117984051	117984051	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:117984051C>T	ENST00000534111.1	+	9	1070	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	TMPRSS4_ENST00000522307.1_Silent_p.L124L|TMPRSS4_ENST00000523251.1_Silent_p.L231L|TMPRSS4_ENST00000437212.3_Silent_p.L271L|TMPRSS4_ENST00000522824.1_Silent_p.L266L|TMPRSS4_ENST00000518413.2_3'UTR	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	271	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTTCCCATCCCTGGCTGTGGC	0.532000													55	53					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62588719	62588719	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:62588719G>C	ENST00000371158.2	+	39	5146	c.5032G>C	c.(5032-5034)Gag>Cag	p.E1678Q	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1678	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAGGACTGTTGAGATAAACAG	0.303000													20	112					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197422853	197422853	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:197422853C>T	ENST00000273582.5	-	10	1768		c.e10-1		KIAA0226_ENST00000296343.5_Splice_Site|KIAA0226_ENST00000389665.5_Splice_Site	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226						autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CGACCACCTTCTGTGGGAAAT	0.502000													19	114					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601277	58601277	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:58601277C>T	ENST00000240727.6	-	2	757	c.358G>A	c.(358-360)Gca>Aca	p.A120T	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A176T|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A120T	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	120	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGGGAGGCTGCCTTCTTGCAG	0.632000													27	114					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291559	33291559	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:33291559C>T	ENST00000280979.4	+	13	4710	c.4540C>T	c.(4540-4542)Cag>Tag	p.Q1514*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1514					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATCTAAACATCAGACTACAGA	0.378000													19	69					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149402731	149402731	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:149402731G>A	ENST00000258484.6	+	1	179	c.145G>A	c.(145-147)Gag>Aag	p.E49K	EPC2_ENST00000409654.1_Missense_Mutation_p.E49K	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	49					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GGAGAAGGAGGAGGAATCGGT	0.622000													5	25					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210006542	210006542	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:210006542C>G	ENST00000491415.2	+	4	458	c.401C>G	c.(400-402)tCt>tGt	p.S134C		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	134	Glu-rich.				multicellular organismal development	nucleus		p.S134F(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GTAGCTTTATCTGCTGACCCT	0.398000													3	18					0	0	1	0	0
KLHL28	54813	broad.mit.edu	37	14	45414324	45414324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:45414324G>C	ENST00000396128.4	-	2	927	c.808C>G	c.(808-810)Cat>Gat	p.H270D	KLHL28_ENST00000355081.2_Missense_Mutation_p.H284D	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	270										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACTGTCTGATGAGAGAGTCTA	0.413000													19	44					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150030	20150030	+	Missense_Mutation	SNP	C	C	A	rs150673228	byFrequency	TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr20:20150030C>A	ENST00000245957.5	+	13	1387	c.1311C>A	c.(1309-1311)ttC>ttA	p.F437L	C20orf26_ENST00000377309.2_De_novo_Start_InFrame|C20orf26_ENST00000451767.2_Missense_Mutation_p.F437L|C20orf26_ENST00000377306.1_Missense_Mutation_p.F437L|C20orf26_ENST00000389656.3_De_novo_Start_InFrame	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	437										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCCAGAACTTCGTGAAAATGG	0.488000													22	167					3.8784e-16	4.21396e-16	1	1	0
DOCK9	23348	broad.mit.edu	37	13	99537984	99537984	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr13:99537984C>G	ENST00000376460.1	-	20	2318	c.2238G>C	c.(2236-2238)aaG>aaC	p.K746N	DOCK9_ENST00000442173.1_Missense_Mutation_p.K746N|DOCK9_ENST00000448493.2_Missense_Mutation_p.K758N|DOCK9_ENST00000339416.2_Missense_Mutation_p.K747N	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	747	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGACATCCCTCTTCTTCGTGC	0.393000													8	53					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83360854	83360854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chrX:83360854C>T	ENST00000262752.2	-	16	1403	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.E466K|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	466	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCAATCTCTTCTGAAGGGTCT	0.318000													31	69					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140069732	140069732	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:140069732G>C	ENST00000323927.2	-	12	2217	c.2213C>G	c.(2212-2214)tCc>tGc	p.S738C	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	738					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GGCCATGCCGGAGTCGCTCTC	0.697000													5	9					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234923250	234923250	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:234923250C>T	ENST00000324695.4	+	25	3349	c.3309C>T	c.(3307-3309)atC>atT	p.I1103I	TRPM8_ENST00000466594.1_3'UTR|TRPM8_ENST00000433712.2_Silent_p.I681I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1103						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTAATAAAATCAAATAAAACT	0.284000													3	11					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155900	22155900	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:22155900A>T	ENST00000397126.4	-	4	2084	c.1936T>A	c.(1936-1938)Ttt>Att	p.F646I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACCTTAATAAAGGTTTTGCCA	0.393000													11	40					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28268964	28268964	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:28268964C>G	ENST00000405948.2	+	7	1753	c.1333C>G	c.(1333-1335)Cag>Gag	p.Q445E	PGBD1_ENST00000259883.3_Missense_Mutation_p.Q445E	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	445					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TTATGCTTCTCAGAAAAATGT	0.353000													19	82					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23907016	23907016	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr13:23907016G>A	ENST00000382298.3	-	10	11587	c.10999C>T	c.(10999-11001)Cat>Tat	p.H3667Y	SACS_ENST00000382292.3_Missense_Mutation_p.H3667Y|SACS_ENST00000402364.1_Missense_Mutation_p.H2917Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3667					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATTGAGGATGAAATCTAATG	0.383000													16	85					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053203	238053203	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:238053203C>G	ENST00000366570.4	-	3	522	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	122					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGCTTCCTCTCTGTAACCACC	0.562000													33	180					0	0	1	0	0
VPS28	51160	broad.mit.edu	37	8	145651075	145651075	+	Missense_Mutation	SNP	G	G	A	rs75776765		TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:145651075G>A	ENST00000377348.2	-	5	274	c.185C>T	c.(184-186)tCc>tTc	p.S62F	VPS28_ENST00000526054.1_Missense_Mutation_p.S62F|VPS28_ENST00000526734.1_5'UTR|VPS28_ENST00000292510.4_Missense_Mutation_p.S62F|VPS28_ENST00000529182.1_Missense_Mutation_p.S62F	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	62	VPS28 N-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTCGCTGGGGGAGACACAGTC	0.592000													13	39					0	0	1	0	0
MRPL17	63875	broad.mit.edu	37	11	6704461	6704461	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:6704461C>G	ENST00000288937.6	-	1	171	c.67G>C	c.(67-69)Gag>Cag	p.E23Q		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	23					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGCGGGACTCGGGACCGAGG	0.647000													9	12					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17765156	17765156	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:17765156C>A	ENST00000378814.5	-	37	4458	c.4459G>T	c.(4459-4461)Gag>Tag	p.E1487*	KIF13A_ENST00000378843.2_Nonsense_Mutation_p.E1487*|KIF13A_ENST00000259711.6_Nonsense_Mutation_p.E1535*|KIF13A_ENST00000378826.2_Nonsense_Mutation_p.E1500*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.E1500*	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1535					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTTCCAGCTCATTTTCTTCC	0.418000													4	12					0.150653	0.150933	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62237952	62237952	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:62237952G>C	ENST00000261517.5	-	45	5183	c.5110C>G	c.(5110-5112)Cag>Gag	p.Q1704E	VPS13C_ENST00000249837.3_Missense_Mutation_p.Q1661E|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q1661E|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q1704E	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1704					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TAAACAATCTGAATACAACCC	0.348000													27	70					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													5	53					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48559672	48559672	+	Silent	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:48559672C>G	ENST00000435803.1	+	53	13857	c.13833C>G	c.(13831-13833)gtC>gtG	p.V4611V	ABCA13_ENST00000544596.1_Silent_p.V341V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4611					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAAGTGGGTCTTTACTATTT	0.348000													3	16					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107326	168107326	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:168107326T>C	ENST00000409195.1	+	9	9513	c.9424T>C	c.(9424-9426)Tct>Cct	p.S3142P	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2920P|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3142P|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2967					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAACGAGCTTTCTCAGTCCCC	0.463000													14	79					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94711959	94711959	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:94711959C>T	ENST00000304338.3	+	13	1534	c.1380C>T	c.(1378-1380)atC>atT	p.I460I		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	460						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCCAGAAATCTTGGAACTTA	0.313000													35	59					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32955905	32955905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:32955905C>G	ENST00000399302.2	+	4	3049	c.2714C>G	c.(2713-2715)tCt>tGt	p.S905C	QSER1_ENST00000527788.1_Missense_Mutation_p.S666C	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	905										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GATTTTAACTCTATGACAGCT	0.388000													16	41					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47843361	47843361	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:47843361C>A	ENST00000378460.2	-	9	1238	c.1192G>T	c.(1192-1194)Gac>Tac	p.D398Y	NUP160_ENST00000528071.1_Missense_Mutation_p.D284Y|NUP160_ENST00000528501.1_5'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.D284Y	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	398					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGGCAAAGTCAATCAGTGTC	0.403000													6	26					0.000274275	0.000283733	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62298834	62298834	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:62298834C>G	ENST00000378024.4	-	5	3329	c.3055G>C	c.(3055-3057)Gat>Cat	p.D1019H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1019					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTTCACATCAAATTCTGGC	0.453000													21	87					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110883001	110883001	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:110883001G>C	ENST00000369784.3	+	1	1874	c.974G>C	c.(973-975)cGa>cCa	p.R325P	RBM15_ENST00000487146.2_Missense_Mutation_p.R325P|RBM15_ENST00000602849.1_Missense_Mutation_p.R325P	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	325					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCATTGCCTCGAGACCTGGAG	0.602000			T	MKL1	acute megakaryocytic leukemia								11	101					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8211823	8211823	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:8211823A>G	ENST00000307637.4	-	2	1162	c.959T>C	c.(958-960)tTa>tCa	p.L320S		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	320					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GAATTGGCCTAAATTGTAATA	0.453000													46	37					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	635596	635596	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:635596G>C	ENST00000264935.5	+	6	891	c.801G>C	c.(799-801)aaG>aaC	p.K267N	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	267					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTCTGGAGAAGATGCCTTGGA	0.632000													7	46					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129991656	129991656	+	Missense_Mutation	SNP	G	G	A	rs3837393		TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:129991656G>A	ENST00000263574.5	+	5	736	c.664G>A	c.(664-666)Gag>Aag	p.E222K	APLP2_ENST00000278756.7_Missense_Mutation_p.E232K|APLP2_ENST00000543137.1_Missense_Mutation_p.E129K|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000539648.1_Missense_Mutation_p.E66K|APLP2_ENST00000528499.1_Missense_Mutation_p.E222K|APLP2_ENST00000338167.5_Missense_Mutation_p.E222K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	222	Asp/Glu-rich (highly acidic).|Poly-Glu.				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ggaagatgaagaggaagagga	0.423000													25	69					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40778148	40778148	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:40778148C>G	ENST00000381782.2	+	7	1403	c.908C>G	c.(907-909)tCa>tGa	p.S303*	NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Nonsense_Mutation_p.S303*	NM_024677.4	NP_078953			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AATACAGGCTCATGGTACACA	0.358000													6	31					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879302	144879302	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:144879302G>C	ENST00000369359.4	-	30	4594	c.4556C>G	c.(4555-4557)tCa>tGa	p.S1519*	PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.S1339*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.S1383*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.S1519*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.S1383*|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1383					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTTGTAACTGAGAGGGACCG	0.502000			T	PDGFRB	MPD								29	296					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367813	99367813	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:99367813C>T	ENST00000336411.2	-	5	547	c.364G>A	c.(364-366)Gag>Aag	p.E122K	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	122					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TCTTCATCCTCAGCTATAGAG	0.403000													7	67					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687131	158687131	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:158687131A>C	ENST00000368146.1	-	1	822	c.823T>G	c.(823-825)Ttg>Gtg	p.L275V	OR6K3_ENST00000368145.1_Missense_Mutation_p.L259V			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L275V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CTGAAACGCAAGTACATGAGT	0.463000													11	55					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17590557	17590557	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:17590557G>A	ENST00000226299.4	+	7	1094	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	LAP3_ENST00000606142.1_Missense_Mutation_p.E243K|LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	274					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CAATGCAAACGAACCACCCCT	0.448000													19	94					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86794362	86794362	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:86794362G>C	ENST00000394703.5	+	5	668	c.105G>C	c.(103-105)caG>caC	p.Q35H	DMTF1_ENST00000331242.7_Missense_Mutation_p.Q35H|DMTF1_ENST00000413276.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000394702.3_Missense_Mutation_p.Q35H|DMTF1_ENST00000432937.2_Intron	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	35	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACTGCCCTCAGAATGGTAGGA	0.438000													19	60					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204415234	204415234	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:204415234C>T	ENST00000367187.3	-	17	3084	c.2528G>A	c.(2527-2529)cGa>cAa	p.R843Q	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R843Q	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	843					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCAGTAATATCGCTTCTCCCA	0.612000											OREG0014135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	40					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21990189	21990189	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:21990189G>A	ENST00000450879.2	-	4	2773	c.2674C>T	c.(2674-2676)Cct>Tct	p.P892S	SALL2_ENST00000327430.3_3'UTR|SALL2_ENST00000317492.5_Missense_Mutation_p.S194F|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Missense_Mutation_p.S192F			Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	0							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TTGGGTGCAGGAGGCTGAAAT	0.552000													5	17					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2577855	2577855	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:2577855C>T	ENST00000340611.4	-	14	2570	c.2314G>A	c.(2314-2316)Gtg>Atg	p.V772M		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	772					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						ATGGCCAGCACAGCCTCAGGC	0.711000													6	21					0	0	1	0	0
DXO	1797	broad.mit.edu	37	6	31937743	31937743	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:31937743C>A	ENST00000375349.3	-	7	1513	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_Missense_Mutation_p.D368Y|DXO_ENST00000375356.3_Missense_Mutation_p.D368Y					decapping exoribonuclease	368																	TAAGGTGCATCTTGGTGTACA	0.567000													5	35					3.59834e-05	3.75116e-05	1	1	0
NBPF14	25832	broad.mit.edu	37	1	148025789	148025789	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:148025789C>G	ENST00000369219.1	-	1	59	c.43G>C	c.(43-45)Gag>Cag	p.E15Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	15						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TTGAGCTGCTCTGCAAGCTTC	0.527000													25	446					0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45089830	45089830	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr21:45089830G>A	ENST00000340648.4	+	2	313	c.196G>A	c.(196-198)Gat>Aat	p.D66N		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	66					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GTGGGTGCAGGATGAACCCCT	0.483000													10	44					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6730542	6730542	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:6730542G>A	ENST00000405858.1	-	5	2572	c.2031C>T	c.(2029-2031)aaC>aaT	p.N677N	ZNF12_ENST00000342651.5_Silent_p.N639N|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Silent_p.N603N	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	677					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TCTGATGGCTGTTGAATGCTG	0.388000													5	49					0	0	1	0	0
ARID3A	1820	broad.mit.edu	37	19	965073	965073	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:965073C>T	ENST00000263620.3	+	6	1518	c.1191C>T	c.(1189-1191)atC>atT	p.I397I		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	397						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCTAAGATCAAGAAAGGTA	0.627000													4	16					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96014054	96014054	+	Silent	SNP	A	A	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr10:96014054A>G	ENST00000371380.3	+	9	3622	c.3387A>G	c.(3385-3387)caA>caG	p.Q1129Q	PLCE1_ENST00000260766.3_Silent_p.Q1129Q|PLCE1_ENST00000371385.3_Silent_p.Q821Q|PLCE1_ENST00000371375.1_Silent_p.Q821Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTAATGAACAAGAAGAATCAG	0.383000													6	21					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91826008	91826008	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:91826008C>A	ENST00000389857.6	-	4	404	c.318G>T	c.(316-318)atG>atT	p.M106I		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	106					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCTGCCAATCATCAAAACAT	0.502000													3	13					0.150653	0.150933	1	1	0
SV2C	22987	broad.mit.edu	37	5	75587088	75587088	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:75587088G>C	ENST00000502798.2	+	7	1622	c.1180G>C	c.(1180-1182)Gaa>Caa	p.E394Q	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.E394Q	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	394					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGAGCTGATTGAAATTGAGAG	0.423000													11	19					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5064917	5064917	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:5064917C>G	ENST00000381652.3	+	9	1585	c.1091C>G	c.(1090-1092)tCt>tGt	p.S364C	JAK2_ENST00000544510.1_Missense_Mutation_p.S215C|JAK2_ENST00000539801.1_Missense_Mutation_p.S364C	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	364	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GAAGCTTTGTCTTTCGTGTCA	0.338000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				7	50					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126220081	126220081	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:126220081G>A	ENST00000373624.2	-	14	1290	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	DENND1A_ENST00000394215.2_Silent_p.L333L|DENND1A_ENST00000542603.1_Silent_p.L105L|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394219.3_Silent_p.L331L|DENND1A_ENST00000373620.3_Silent_p.L363L|DENND1A_ENST00000373618.1_Silent_p.L331L	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	363	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CCTGCTTGAAGAGCTGCAGCT	0.622000													3	6					0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58471419	58471419	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:58471419C>G	ENST00000219919.4	+	5	958	c.588C>G	c.(586-588)atC>atG	p.I196M	AQP9_ENST00000558772.1_Missense_Mutation_p.I131M|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.I196M	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	196					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CCATTGCCATCGGCCTCCTGA	0.547000													10	32					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102291905	102291905	+	RNA	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:102291905C>G	ENST00000561463.1	+	0	671																											CCAAGACCATCATGCACATCA	0.572000													6	60					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994808	143994808	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:143994808C>G	ENST00000323110.2	-	6	1016	c.1014G>C	c.(1012-1014)caG>caC	p.Q338H		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	338					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGCGCAGGATCTGCTGCACGT	0.627000									Familial Hyperaldosteronism type I				13	61					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155896523	155896523	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:155896523C>T	ENST00000368320.3	-	6	650	c.625G>A	c.(625-627)Gca>Aca	p.A209T	KIAA0907_ENST00000368321.3_Missense_Mutation_p.A209T|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.A209T			Q7Z7F0	K0907_HUMAN	KIAA0907	209										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCGATGGGTGCTGGCTGGTGA	0.453000													32	59					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80037346	80037346	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:80037346C>T	ENST00000306749.2	-	42	7503	c.7285G>A	c.(7285-7287)Gcc>Acc	p.A2429T	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2429	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGCTCAGCGGCACGCAGCTTG	0.652000													11	34					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7047977	7047977	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:7047977G>C	ENST00000356654.4	+	7	3088	c.2851G>C	c.(2851-2853)Gag>Cag	p.E951Q	ATN1_ENST00000396684.2_Missense_Mutation_p.E951Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	951					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCCTGGCTTTGAGGTGAAGCC	0.647000													23	43					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515151	56515151	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:56515151G>A	ENST00000390649.3	+	2	132	c.132G>A	c.(130-132)ctG>ctA	p.L44L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	44						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCAAAACCTGAGCTCTCAGC	0.438000													33	69					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120181672	120181672	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr4:120181672G>A	ENST00000450251.1	+	7	1230	c.686G>A	c.(685-687)gGc>gAc	p.G229D	USP53_ENST00000274030.6_Missense_Mutation_p.G229D			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	229					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AGTAACTGTGGCCAAAAAATA	0.343000													8	26					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19443874	19443874	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:19443874C>T	ENST00000375267.2	-	73	10667	c.10664G>A	c.(10663-10665)cGg>cAg	p.R3555Q	UBR4_ENST00000375217.2_Missense_Mutation_p.R3548Q|UBR4_ENST00000375254.3_Missense_Mutation_p.R3555Q|UBR4_ENST00000375218.3_5'UTR|UBR4_ENST00000375226.2_Missense_Mutation_p.R3531Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3555					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTGGTGTACCGCGTGTCCAC	0.438000													31	54					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234871945	234871945	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:234871945G>A	ENST00000324695.4	+	13	1713	c.1673G>A	c.(1672-1674)cGg>cAg	p.R558Q	TRPM8_ENST00000433712.2_Missense_Mutation_p.R246Q	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	558						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTATTACTCGGCACCCCCTG	0.517000													23	35					0	0	1	0	0
LDLRAD1	388633	broad.mit.edu	37	1	54474748	54474748	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:54474748G>A	ENST00000371360.1	-	6	542	c.525C>T	c.(523-525)ttC>ttT	p.F175F	LDLRAD1_ENST00000420619.1_Silent_p.F136F|LDLRAD1_ENST00000371362.3_Silent_p.F86F|LDLRAD1_ENST00000545928.1_Silent_p.F132F	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	175	LDL-receptor class A 3; atypical.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						CGCAGTACTTGAAGAAGGTTG	0.602000													20	98					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32937603	32937603	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr13:32937603G>C	ENST00000544455.1	+	18	8491	c.8264G>C	c.(8263-8265)gGa>gCa	p.G2755A	BRCA2_ENST00000380152.3_Missense_Mutation_p.G2755A	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2755					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTCTTCATGGAGCAGAACTG	0.438000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			13	11					0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114256933	114256933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:114256933G>T	ENST00000306507.5	+	1	273	c.100G>T	c.(100-102)Gaa>Taa	p.E34*		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	34					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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 activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GGGAgaggaggaagatgaaga	0.647000													4	41					0.248553	0.248553	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228521390	228521390	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:228521390C>G	ENST00000570156.2	+	70	18908	c.18834C>G	c.(18832-18834)atC>atG	p.I6278M	OBSCN_ENST00000284548.11_Missense_Mutation_p.I5321M|OBSCN_ENST00000366709.4_Missense_Mutation_p.I2440M|OBSCN_ENST00000422127.1_Missense_Mutation_p.I5321M|OBSCN_ENST00000366707.4_Missense_Mutation_p.I2955M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5321					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGAGATCATCTCCGTCACCC	0.582000													4	9					0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6923321	6923321	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:6923321G>A	ENST00000011653.4	+	4	486	c.228G>A	c.(226-228)ctG>ctA	p.L76L	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Silent_p.L21L	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	76	Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CATCCAAGCTGAATGATCGCG	0.512000													25	114					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331294	85331294	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:85331294G>A	ENST00000440886.1	-	1	548	c.510C>T	c.(508-510)ctC>ctT	p.L170L	LPAR3_ENST00000491034.1_Intron|LPAR3_ENST00000370611.3_Silent_p.L170L			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	170					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AGATGTTGCAGAGGCAATTCC	0.527000													16	130					0	0	1	0	0
ITPKA	3706	broad.mit.edu	37	15	41794315	41794315	+	Silent	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:41794315C>T	ENST00000260386.5	+	4	977	c.924C>T	c.(922-924)cgC>cgT	p.R308R		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	308					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		ACGCGCAGCGCGCCGTCACCA	0.652000													3	6					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105589104	105589104	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:105589104C>G	ENST00000258530.3	-	14	1401	c.1176G>C	c.(1174-1176)caG>caC	p.Q392H	APPL2_ENST00000551662.1_Missense_Mutation_p.Q398H|APPL2_ENST00000539978.2_Missense_Mutation_p.Q349H	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	392	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCAGAGCGGTCTGATTCAACT	0.463000													14	41					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427646	104427646	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:104427646C>G	ENST00000297579.5	+	1	705	c.428C>G	c.(427-429)tCg>tGg	p.S143W	DCAF13_ENST00000521716.1_5'UTR|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000521971.1_5'UTR|DCAF13_ENST00000519682.1_5'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCGGACACCTCGTGGAGTCCG	0.602000													7	21					0	0	1	0	0
CCDC159	126075	broad.mit.edu	37	19	11462756	11462756	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:11462756G>C	ENST00000588790.1	+	9	961	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	CCDC159_ENST00000458408.1_Missense_Mutation_p.E172Q			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	287										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGAGATCTCAGAGAACTTGGT	0.592000													3	30					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192255167	192255167	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:192255167G>C	ENST00000392318.3	+	18	2178	c.1931G>C	c.(1930-1932)aGa>aCa	p.R644T	MYO1B_ENST00000304164.4_Missense_Mutation_p.R644T|MYO1B_ENST00000339514.4_Missense_Mutation_p.R644T|MYO1B_ENST00000392316.1_Missense_Mutation_p.R644T	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	644	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGCCTAGAAAGATACAAAATG	0.453000													19	66					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1					PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													3	36					0.004672	0.00476915	1	1	0
A4GNT	51146	broad.mit.edu	37	3	137849773	137849773	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:137849773G>C	ENST00000236709.3	-	2	527	c.326C>G	c.(325-327)tCa>tGa	p.S109*		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	109					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GTCTATTGCTGACAGGAAGGA	0.428000													12	83					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39063847	39063847	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:39063847G>C	ENST00000355481.4	+	95	14145	c.14014G>C	c.(14014-14016)Gag>Cag	p.E4672Q	RYR1_ENST00000359596.3_Missense_Mutation_p.E4677Q|RYR1_ENST00000360985.3_Missense_Mutation_p.E4672Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4677					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCGGGAGAAGGAGCTGGCCCG	0.602000													19	65					0	0	1	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38804675	38804675	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:38804675C>G	ENST00000449105.3	-	7	1142		c.e7-1		HNRNPLL_ENST00000409636.1_Splice_Site|HNRNPLL_ENST00000378915.3_Splice_Site|HNRNPLL_ENST00000608859.1_Splice_Site|HNRNPLL_ENST00000409328.1_Splice_Site					heterogeneous nuclear ribonucleoprotein L-like																		TTTCCTCTATCTGACACAAAA	0.398000													9	65					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201061111	201061111	+	Missense_Mutation	SNP	G	G	A	rs141204958	byFrequency	TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:201061111G>A	ENST00000362061.3	-	4	756	c.530C>T	c.(529-531)tCg>tTg	p.S177L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.S177L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	177					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGGCACCCCCGACACCAGCCG	0.612000													9	20					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56722374	56722374	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:56722374G>C	ENST00000425394.2	-	3	710	c.334C>G	c.(334-336)Caa>Gaa	p.Q112E	PAN2_ENST00000440411.3_Missense_Mutation_p.Q112E|PAN2_ENST00000257931.5_Missense_Mutation_p.Q112E|PAN2_ENST00000548043.1_Missense_Mutation_p.Q112E	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	112					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCATTGACTTGAAAGGATGAG	0.507000													6	21					0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35806520	35806520	+	Silent	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:35806520G>A	ENST00000373822.1	-	15	1865	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	SRPK1_ENST00000423325.2_Intron|SRPK1_ENST00000373825.2_Intron			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	582	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						ATTTCCCACTGAGGGAAAAGC	0.413000													17	72					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52949610	52949610	+	Silent	SNP	C	C	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:52949610C>A	ENST00000281741.4	-	13	1553	c.1182G>T	c.(1180-1182)gtG>gtT	p.V394V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	394	Thioredoxin.				cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTGTTAGTTCCACTGTAAGTT	0.363000													35	25					4.34311e-12	4.67187e-12	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30744748	30744748	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr16:30744748C>G	ENST00000262518.4	+	28	6660	c.6275C>G	c.(6274-6276)tCt>tGt	p.S2092C	SRCAP_ENST00000395059.2_Missense_Mutation_p.S2030C|SRCAP_ENST00000344771.4_Missense_Mutation_p.S1934C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2092	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGGATGGATCTACTAGAGTT	0.537000													9	42					0	0	1	0	0
HSPA9	3313	broad.mit.edu	37	5	137902699	137902699	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:137902699G>C	ENST00000297185.3	-	8	995	c.870C>G	c.(868-870)ttC>ttG	p.F290L		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	290					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTCTCTCTTGAACTCCTTCA	0.418000													23	54					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1019341	1019341	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:1019341G>C	ENST00000421673.2	-	30	4014	c.3964C>G	c.(3964-3966)Cag>Gag	p.Q1322E		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1322	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTGTGGACTGAGCTGTGGAC	0.627000													13	41					0	0	1	0	0
FAM92A1	137392	broad.mit.edu	37	8	94713651	94713651	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr8:94713651G>C	ENST00000518322.1	+	2	367	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	FAM92A1_ENST00000423990.2_Missense_Mutation_p.E76Q|FAM92A1_ENST00000522324.1_Missense_Mutation_p.E76Q	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	76										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTTTGCAGATGAGTTTGCCAA	0.463000													3	18					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56721348	56721348	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:56721348G>C	ENST00000425394.2	-	6	1095	c.719C>G	c.(718-720)tCa>tGa	p.S240*	PAN2_ENST00000440411.3_Nonsense_Mutation_p.S240*|PAN2_ENST00000257931.5_Nonsense_Mutation_p.S240*|PAN2_ENST00000548043.1_Nonsense_Mutation_p.S240*	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	240					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATCAAAGTCTGACAGACTTCC	0.488000													13	53					0	0	1	0	0
EAF2	55840	broad.mit.edu	37	3	121605230	121605230	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:121605230G>T	ENST00000273668.2	+	6	849	c.778G>T	c.(778-780)Gac>Tac	p.D260Y		NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	260	Necessary for interaction with TCEA1 and transactivation activity (By similarity).|Necessary for transactivation activity.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TGACAGTGATGACTGAAGAAA	0.239000													8	83					0.000442599	0.000455245	1	1	0
SLC22A12	116085	broad.mit.edu	37	11	64361160	64361160	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:64361160C>G	ENST00000377574.1	+	4	1462	c.715C>G	c.(715-717)Ctg>Gtg	p.L239V	SLC22A12_ENST00000473690.1_Missense_Mutation_p.L18V|SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000336464.7_Missense_Mutation_p.L205V|SLC22A12_ENST00000377567.2_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	239					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTTGAACTCTCTGGGCTTCAG	0.642000													11	24					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101777831	101777831	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:101777831G>A	ENST00000375001.3	+	10	1909	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	496	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CATGGCCCCTGAGCGGGCAGT	0.582000													7	10					0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91163063	91163063	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr10:91163063T>C	ENST00000546318.1	+	2	2225	c.938T>C	c.(937-939)cTa>cCa	p.L313P	IFIT1_ENST00000371804.3_Missense_Mutation_p.L344P|LIPA_ENST00000371837.1_Intron	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	344					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GTGGCTCATCTAGACCTGGCA	0.378000													13	29					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37358222	37358222	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr5:37358222C>T	ENST00000231498.3	-	4	627	c.424G>A	c.(424-426)Gag>Aag	p.E142K	NUP155_ENST00000381843.2_Missense_Mutation_p.E83K|NUP155_ENST00000513532.1_Missense_Mutation_p.E142K	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	142					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAATAGTCTCACTAAGTCCA	0.368000													23	111					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324551	62324551	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr20:62324551C>G	ENST00000318100.4	+	30	3734	c.2907C>G	c.(2905-2907)atC>atG	p.I969M	RTEL1_ENST00000370003.1_Missense_Mutation_p.I214M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.I969M|RTEL1_ENST00000508582.2_Missense_Mutation_p.I993M|RTEL1_ENST00000370018.3_Missense_Mutation_p.I969M|RTEL1_ENST00000360203.5_Missense_Mutation_p.I969M	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	969					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGGTCTGTATCCAGCTGACAG	0.602000													21	104					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119887047	119887047	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:119887047G>A	ENST00000464295.1	-	10	1722	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	GPR156_ENST00000461057.1_Missense_Mutation_p.S422L|GPR156_ENST00000315843.3_Missense_Mutation_p.S426L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	426						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GAGGTGACCCGAAGGCCCCTG	0.627000													5	62					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186147734	186147734	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:186147734C>T	ENST00000271588.4	+	104	16359	c.16130C>T	c.(16129-16131)cCt>cTt	p.P5377L	HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5377					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CGGTTCTCCCCTGTGAGAAAC	0.458000													29	96					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53384046	53384046	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:53384046C>G	ENST00000595635.1	-	8	1834	c.1333G>C	c.(1333-1335)Gat>Cat	p.D445H	ZNF320_ENST00000391781.2_Missense_Mutation_p.D445H|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TTACCACAATCACCACACTTG	0.393000													12	66					0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538668	31538668	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr21:31538668G>C	ENST00000286808.3	-	1	303	c.268C>G	c.(268-270)Ctc>Gtc	p.L90V		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	90					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						ATCAAGGAGAGAGCAACAGCC	0.567000													15	31					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160666537	160666537	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:160666537G>C	ENST00000366952.1	-	8	2416	c.935C>G	c.(934-936)cCt>cGt	p.P312R	SLC22A2_ENST00000366953.3_Missense_Mutation_p.P333R|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	333					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AAGAAATGAAGGGTTCAATTT	0.388000													10	31					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10477070	10477071	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:10477070_10477071delTC	ENST00000538557.1	+	9	1076_1077	c.832_833delTC	c.(832-834)tcafs	p.S279fs	PGD_ENST00000270776.8_Frame_Shift_Del_p.S292fs|PGD_ENST00000541529.1_Frame_Shift_Del_p.S270fs|PGD_ENST00000498356.1_3'UTR			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	292					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		TCGGTGCTTATCATCTCTGAAG	0.470													17	49	---	---	---	---					
SYTL1	84958	broad.mit.edu	37	1	27680248	27680250	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr1:27680248_27680250delGAG	ENST00000543823.1	+	14	2056_2058	c.1594_1596delGAG	c.(1594-1596)gagdel	p.E533del	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_In_Frame_Del_p.E521del			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	533					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	p.E520K(1)		NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCACACCTGAGGAGAAGCAGC	0.640													13	30	---	---	---	---					
NRXN1	9378	broad.mit.edu	37	2	50779813	50779813	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:50779813delC	ENST00000404971.1	-	10	3130	c.1791delG	c.(1789-1791)gggfs	p.G597fs	NRXN1_ENST00000401669.2_Frame_Shift_Del_p.G557fs|NRXN1_ENST00000402717.3_Frame_Shift_Del_p.G549fs|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.G549fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.G557fs|NRXN1_ENST00000406316.2_Frame_Shift_Del_p.G557fs	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	557	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGTACCTGACCCCATGTCCA	0.448													31	88	---	---	---	---					
PTPN4	5775	broad.mit.edu	37	2	120643442	120643471	+	Splice_Site	DEL	AATTCCACTATGCAAGGGTAAGTGAAGAAA	AATTCCACTATGCAAGGGTAAGTGAAGAAA	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:120643442_120643471delAATTCCACTATGCAAGGGTAAGTGAAGAAA	ENST00000263708.2	+	9	1430_1446	c.659_675delAATTCCACTATGCAAGGGTAAGTGAAGAAA	c.(658-675)gaattccactatgcaagg>g	p.EFHYAR220del		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	220	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TATGGAGTTGAATTCCACTATGCAAGGGTAAGTGAAGAAAACTTACTTTG	0.339													8	146	---	---	---	---					
ZAK	51776	broad.mit.edu	37	2	174131059	174131059	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr2:174131059delG	ENST00000375213.3	+	20	2062	c.1984delG	c.(1984-1986)ggcfs	p.G662fs	MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Frame_Shift_Del_p.G662fs|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2																					CTTTTCCAGTGGCAATACTGA	0.468													15	57	---	---	---	---					
CACNA1D	776	broad.mit.edu	37	3	53781433	53781433	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr3:53781433delT	ENST00000288139.4	+	27	3450	c.3332delT	c.(3331-3333)atgfs	p.M1112fs	CACNA1D_ENST00000422281.2_Frame_Shift_Del_p.M1092fs|CACNA1D_ENST00000350061.5_Frame_Shift_Del_p.M1092fs	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit		Dihydropyridine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTCTCTGCTATGATGGCGCTC	0.547													36	78	---	---	---	---					
ZNF318	24149	broad.mit.edu	37	6	43306894	43306896	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr6:43306894_43306896delAGA	ENST00000361428.2	-	10	4917_4919	c.4840_4842delTCT	c.(4840-4842)tctdel	p.S1614del	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1614					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAGGAGAAGTAGAAGAGGTGTCT	0.488													10	134	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													10	11	---	---	---	---					
GRIN3A	116443	broad.mit.edu	37	9	104432558	104432559	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:104432558_104432559delTT	ENST00000361820.3	-	3	2735_2736	c.2135_2136delAA	c.(2134-2136)aaafs	p.K712fs		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	712					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGGAGAAGACTTTACTTCTATT	0.455													35	105	---	---	---	---					
FAM129B	64855	broad.mit.edu	37	9	130270413	130270415	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr9:130270413_130270415delTGC	ENST00000373312.3	-	12	1712_1714	c.1499_1501delGCA	c.(1498-1503)agcatc>atc	p.S500del	FAM129B_ENST00000373314.3_In_Frame_Del_p.S487del|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	500							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGGAACGGGATGCTGATCTGCAG	0.621													13	70	---	---	---	---					
LRRN4CL	221091	broad.mit.edu	37	11	62455934	62455936	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:62455934_62455936delAAG	ENST00000317449.4	-	2	522_524	c.45_47delCTT	c.(43-48)ttcttg>ttg	p.F15del		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	15						integral to membrane				cervix(1)|kidney(1)	2						TCTGGGAACCAAGAAGGTCACGG	0.606													9	8	---	---	---	---					
KCTD21	283219	broad.mit.edu	37	11	77884827	77884827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr11:77884827delC	ENST00000340067.3	-	2	1052	c.774delG	c.(772-774)cggfs	p.R258fs	KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000530261.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	258						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TTTACCTGTACCGTATTAATC	0.498													14	82	---	---	---	---					
KDM5A	5927	broad.mit.edu	37	12	432923	432925	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr12:432923_432925delCTT	ENST00000399788.2	-	15	2353_2355	c.1991_1993delAAG	c.(1990-1995)gaagtg>gtg	p.E664del	KDM5A_ENST00000382815.4_In_Frame_Del_p.E664del	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	664					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGTTCAAACACTTCTTCTTCTGA	0.379			T	NUP98	AML								18	84	---	---	---	---					
TRAV24	28659	broad.mit.edu	37	14	22573824	22573825	+	RNA	INS	-	-	A	rs112427980	by1000genomes	TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:22573824_22573825insA	ENST00000390453.1	+	0	55																											TGACTCTTTTTTAAAAAAACAG	0.450													6	5	---	---	---	---					
WDHD1	11169	broad.mit.edu	37	14	55468815	55468816	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr14:55468815_55468816insA	ENST00000360586.3	-	8	753_754	c.688_689insT	c.(688-690)tctfs	p.S230fs	WDHD1_ENST00000421192.1_Frame_Shift_Ins_p.S107fs|WDHD1_ENST00000420358.2_Frame_Shift_Ins_p.S107fs	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	230						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ACCTACCTGAGAGATGAAATTA	0.347													17	67	---	---	---	---					
NUTM1	256646	broad.mit.edu	37	15	34649422	34649424	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:34649422_34649424delAGG	ENST00000537011.1	+	8	3595_3597	c.3213_3215delAGG	c.(3211-3216)tcagga>tca	p.G1073del	NUTM1_ENST00000438749.3_In_Frame_Del_p.G1063del|NUTM1_ENST00000333756.4_In_Frame_Del_p.G1045del	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		ACCATGCCTCAGGAGGTCAGGGC	0.557													7	37	---	---	---	---					
COPS2	9318	broad.mit.edu	37	15	49422978	49422979	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:49422978_49422979delTT	ENST00000388901.5	-	10	1055_1056	c.982_983delAA	c.(982-984)aagfs	p.K328fs	COPS2_ENST00000299259.6_Frame_Shift_Del_p.K335fs|COPS2_ENST00000542928.1_Frame_Shift_Del_p.K264fs	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	328	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TTTTAGAATCTTTTCAAATTCA	0.302													21	41	---	---	---	---					
SLC27A2	11001	broad.mit.edu	37	15	50474857	50474858	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr15:50474857_50474858delCT	ENST00000267842.5	+	1	465_466	c.233_234delCT	c.(232-234)actfs	p.T78fs	SLC27A2_ENST00000380902.4_Frame_Shift_Del_p.T78fs	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	78					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CGCGACGAGACTCTCACCTACG	0.683													20	61	---	---	---	---					
ANKFY1	51479	broad.mit.edu	37	17	4087129	4087130	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:4087129_4087130delCA	ENST00000341657.4	-	13	1810_1811	c.1775_1776delTG	c.(1774-1776)gtgfs	p.V592fs	ANKFY1_ENST00000574367.1_Frame_Shift_Del_p.V592fs|ANKFY1_ENST00000570535.1_Frame_Shift_Del_p.V634fs|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	592						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCAGGCCCAGCACAGTCTGGTC	0.540													11	33	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													4	5	---	---	---	---					
PLEKHM1P	440456	broad.mit.edu	37	17	62811326	62811327	+	RNA	DEL	CA	CA	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr17:62811326_62811327delCA	ENST00000582986.1	-	0	614					NR_024386.1																						CGTTGGTTGGCACAGTTTACCT	0.510													22	47	---	---	---	---					
SERPINB10	5273	broad.mit.edu	37	18	61597345	61597345	+	Frame_Shift_Del	DEL	C	C	-	rs76217322	byFrequency	TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr18:61597345delC	ENST00000238508.3	+	6	616	c.557delC	c.(556-558)gccfs	p.A186fs		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CTGGTGAACGCCCTATACTTT	0.393													28	56	---	---	---	---					
CLPTM1	1209	broad.mit.edu	37	19	45493737	45493739	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:45493737_45493739delTCC	ENST00000541297.2	+	10	1640_1642	c.1175_1177delTCC	c.(1174-1179)gtcctc>gtc	p.L394del	CLPTM1_ENST00000546079.1_In_Frame_Del_p.L306del|CLPTM1_ENST00000337392.5_In_Frame_Del_p.L408del			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	408					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCATTCGTGGTCCTCCTCTACAT	0.576													22	185	---	---	---	---					
NLRP7	199713	broad.mit.edu	37	19	55435178	55435180	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:55435178_55435180delTTC	ENST00000588756.1	-	13	3528_3530	c.3042_3044delGAA	c.(3040-3045)aagaat>aat	p.K1014del	NLRP7_ENST00000340844.2_In_Frame_Del_p.K957del|NLRP7_ENST00000448121.2_In_Frame_Del_p.K986del|NLRP7_ENST00000328092.5_In_Frame_Del_p.K986del|NLRP7_ENST00000590030.1_In_Frame_Del_p.K957del|NLRP7_ENST00000446217.1_In_Frame_Del_p.K1042del|NLRP7_ENST00000592784.1_In_Frame_Del_p.K1014del			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAGCTTGGGATTCTTTTCTTTCA	0.448													41	101	---	---	---	---					
ZNF544	27300	broad.mit.edu	37	19	58772379	58772381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DK-AA6L-01A-11D-A391-08	TCGA-DK-AA6L-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d9cbd9c-2db0-4710-8388-284777e55de0	61485b6b-7db0-40ad-a37a-85228ef266af	g.chr19:58772379_58772381delAGG	ENST00000269829.4	+	7	881_883	c.407_409delAGG	c.(406-411)caggag>cag	p.E137del	ZNF544_ENST00000600044.1_In_Frame_Del_p.E109del|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_5'UTR|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_In_Frame_Del_p.E109del|ZNF544_ENST00000600220.1_In_Frame_Del_p.E109del|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_In_Frame_Del_p.E137del	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGGGAACACCAGGAGAACTCCTT	0.493													13	102	---	---	---	---