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
SCN3A	6328	broad.mit.edu	37	2	166032861	166032861	+	Missense_Mutation	SNP	C	C	T	rs139769668	byFrequency	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:166032861C>T	ENST00000360093.3	-	3	535	c.44G>A	c.(43-45)cGc>cAc	p.R15H	SCN3A_ENST00000409101.3_Missense_Mutation_p.R15H|SCN3A_ENST00000283254.7_Missense_Mutation_p.R15H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	15						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R15H(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTAAAAAGGCGGAAGCTTTC	0.428000													9	82					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39725792	39725792	+	Silent	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:39725792C>T	ENST00000246662.4	-	4	995	c.930G>A	c.(928-930)gaG>gaA	p.E310E	KRT9_ENST00000588431.1_Silent_p.E77E	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	310	Linker 12.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CAACGTTTATCTCCACATTGA	0.502000													27	39					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123949451	123949451	+	Silent	SNP	A	A	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:123949451A>G	ENST00000274008.3	+	11	2049	c.1980A>G	c.(1978-1980)ccA>ccG	p.P660P	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	660					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GTATTCAGCCACCTAAAGGAG	0.438000													4	96					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142622745	142622745	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:142622745G>A	ENST00000265310.1	-	8	1349	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	TRPV5_ENST00000442623.1_Missense_Mutation_p.A334V	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	334					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGGTACAAGGCAGCCAGGAT	0.552000													5	58					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102290602	102290602	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:102290602C>T	ENST00000370103.4	-	4	785	c.572G>A	c.(571-573)cGt>cAt	p.R191H	OLFM3_ENST00000338858.5_Missense_Mutation_p.R211H|OLFM3_ENST00000359814.3_Missense_Mutation_p.R211H|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Missense_Mutation_p.R116H	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	211						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CATGCAGTCACGAAGTCTTGT	0.373000													4	41					0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71063863	71063863	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:71063863G>T	ENST00000396094.2	+	4	412	c.364G>T	c.(364-366)Ggc>Tgc	p.G122C		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	122	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GACACAACCAGGCCCCAGTCA	0.473000													15	115					2.61681e-11	2.92772e-11	1	1	0
CDKN2A	1029	broad.mit.edu	37	9	21974799	21974799	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:21974799C>A	ENST00000304494.5	-	1	298	c.28G>T	c.(28-30)Gag>Tag	p.E10*	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E10*|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E10*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E10*|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	10					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.P3_P11del(2)|p.0(1)|p.S7_A19del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCGAAGGCTCCATGCTGCTC	0.771000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			26	11					5.61819e-17	6.41268e-17	1	1	0
LCLAT1	253558	broad.mit.edu	37	2	30682532	30682532	+	Silent	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:30682532C>T	ENST00000309052.4	+	2	263	c.54C>T	c.(52-54)aaC>aaT	p.N18N	LCLAT1_ENST00000319406.4_Silent_p.N18N|LCLAT1_ENST00000359433.1_Silent_p.N18N|LCLAT1_ENST00000379509.3_Intron|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000540623.1_5'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	18					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GGTCAATTAACGAGGCAGTTT	0.428000													9	195					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25964902	25964902	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:25964902C>T	ENST00000435504.4	-	13	4597	c.4304G>A	c.(4303-4305)cGg>cAg	p.R1435Q	ASXL2_ENST00000272341.4_Missense_Mutation_p.R918Q|ASXL2_ENST00000404843.1_Missense_Mutation_p.R918Q|ASXL2_ENST00000336112.4_Missense_Mutation_p.R1407Q			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTCATTACCGAACGACAAG	0.488000													9	63					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845708	24845708	+	Silent	SNP	A	A	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr14:24845708A>G	ENST00000413692.2	+	10	2598	c.2454A>G	c.(2452-2454)ccA>ccG	p.P818P	NFATC4_ENST00000556759.1_Silent_p.P290P|NFATC4_ENST00000553708.1_Silent_p.P755P|NFATC4_ENST00000556279.1_Silent_p.P787P|NFATC4_ENST00000553879.1_Silent_p.P685P|NFATC4_ENST00000554473.1_Silent_p.P290P|NFATC4_ENST00000539237.2_Silent_p.P787P|NFATC4_ENST00000424781.2_Silent_p.P768P|NFATC4_ENST00000555802.1_Silent_p.P43P|NFATC4_ENST00000554661.1_Silent_p.P685P|NFATC4_ENST00000554591.1_Silent_p.P818P|NFATC4_ENST00000250373.4_Silent_p.P755P|NFATC4_ENST00000422617.3_Silent_p.P743P|NFATC4_ENST00000554050.1_Silent_p.P755P|NFATC4_ENST00000554966.1_Silent_p.P768P|NFATC4_ENST00000555590.1_Silent_p.P768P|NFATC4_ENST00000556169.1_Silent_p.P743P|NFATC4_ENST00000557451.1_Silent_p.P685P|NFATC4_ENST00000557767.1_Silent_p.P43P|NFATC4_ENST00000553469.1_Silent_p.P787P|NFATC4_ENST00000555393.1_Silent_p.P43P|NFATC4_ENST00000555453.1_Silent_p.P743P|NFATC4_ENST00000555167.1_Silent_p.P290P|NFATC4_ENST00000554344.1_Silent_p.P685P	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	755	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGGGGCCCCCACCATCCTACA	0.607000													4	60					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909221	23909221	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr13:23909221G>A	ENST00000382298.3	-	10	9382	c.8794C>T	c.(8794-8796)Cgg>Tgg	p.R2932W	SACS_ENST00000382292.3_Missense_Mutation_p.R2932W|SACS_ENST00000402364.1_Missense_Mutation_p.R2182W	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2932					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)		GGGAAATACCGTTTTTTTAAC	0.353000													4	96					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770752	53770752	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr19:53770752G>C	ENST00000311170.4	-	1	220	c.167C>G	c.(166-168)gCt>gGt	p.A56G		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	56					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACAGCGGAGAGCTAAGAAGTT	0.438000										HNSCC(26;0.072)			7	42					0	0	1	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81146100	81146100	+	Missense_Mutation	SNP	G	G	A	rs140265942		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr10:81146100G>A	ENST00000372333.3	-	4	598	c.548C>T	c.(547-549)aCg>aTg	p.T183M	ZCCHC24_ENST00000372336.3_3'UTR|RP11-342M3.5_ENST00000438554.2_RNA			Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	47							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						CGGGCAGCCCGTCACTGCACG	0.701000													3	28					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	42					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79348732	79348732	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:79348732C>T	ENST00000233735.1	+	3	212	c.109C>T	c.(109-111)Cca>Tca	p.P37S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	37	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.P37A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GATCAGCTGCCCAGAAGGCAC	0.527000													7	278					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104709513	104709513	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr8:104709513C>T	ENST00000406091.3	+	2	376	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	157	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGTGTCATTACGCTCAAACAA	0.373000										HNSCC(12;0.0054)			12	93					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911162	230911162	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:230911162C>T	ENST00000295190.4	-	4	1138	c.680G>A	c.(679-681)cGt>cAt	p.R227H		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	227						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGGCAGGCCACGCACATCTTT	0.562000													9	86					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113684062	113684062	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr3:113684062G>A	ENST00000295878.3	-	17	2897	c.2751C>T	c.(2749-2751)caC>caT	p.H917H		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	917										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GATATAGCTCGTGGTACCTTC	0.418000													6	85					0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88903741	88903741	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:88903741C>T	ENST00000237623.7	+	6	744	c.596C>T	c.(595-597)gCg>gTg	p.A199V	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Missense_Mutation_p.A186V|SPP1_ENST00000395080.3_Missense_Mutation_p.A213V	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	213					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GACCTGAACGCGCCTTCTGAT	0.532000													15	131					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	20005833	20005833	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:20005833C>T	ENST00000289753.1	+	3	1762	c.1295C>T	c.(1294-1296)cCg>cTg	p.P432L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	432					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GAGCTGCGGCCGCATCCACTT	0.677000													3	23					0	0	1	0	0
TRBJ2-2	28628	broad.mit.edu	37	7	142494265	142494265	+	RNA	SNP	T	T	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:142494265T>C	ENST00000390413.1	+	0	22																											GAGCTGTTTTTTGGAGAAGGC	0.647000													6	42					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513012	106513012	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:106513012G>A	ENST00000359195.3	+	3	2336	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A676T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A676T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	676					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATGATAGCGCCCTTGCCAG	0.393000													4	100					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79163626	79163626	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:79163626G>A	ENST00000269392.4	-	26	3442	c.3195C>T	c.(3193-3195)gcC>gcT	p.A1065A	AZI1_ENST00000450824.2_Silent_p.A1062A|AZI1_ENST00000575907.1_Silent_p.A1029A|AZI1_ENST00000374782.3_Silent_p.A1026A	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	1065					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCAGGTGGTCGGCCCGCTTCA	0.652000													14	185					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205345	81205345	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:81205345C>T	ENST00000552864.1	-	5	803	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	201					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CGTAGCTTTTCAAAGCGAGCC	0.498000													10	23					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769032	148769032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:148769032G>A	ENST00000316286.9	-	3	846	c.574C>T	c.(574-576)Cga>Tga	p.R192*	ZNF786_ENST00000451334.3_Nonsense_Mutation_p.R241*|ZNF786_ENST00000491431.1_Nonsense_Mutation_p.R278*			Q8N393	ZN786_HUMAN	zinc finger protein 786	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGCTCGTGTCGGAAGCACATT	0.682000													6	42					0	0	1	0	0
C8G	733	broad.mit.edu	37	9	139839826	139839826	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:139839826G>A	ENST00000224181.3	+	1	114	c.54G>A	c.(52-54)tcG>tcA	p.S18S		NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	18					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		CAGCTGGCTCGCTGGGCCAGA	0.662000											OREG0019623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61829712	61829712	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:61829712C>G	ENST00000225726.5	-	11	1553	c.1171G>C	c.(1171-1173)Gat>Cat	p.D391H	CCDC47_ENST00000403162.3_Missense_Mutation_p.D391H|CCDC47_ENST00000582252.1_Missense_Mutation_p.D391H	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	391						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TTGGCTTTATCAATAGAATAA	0.428000													5	62					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132002726	132002726	+	Silent	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr8:132002726C>T	ENST00000286355.5	-	2	3115	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	ADCY8_ENST00000377928.3_Silent_p.L341L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	341					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)			CCCGGTCTGACAGGTAACTGA	0.522000										HNSCC(32;0.087)			18	224					0	0	1	0	0
MC4R	4160	broad.mit.edu	37	18	58039415	58039415	+	Silent	SNP	G	G	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr18:58039415G>T	ENST00000299766.3	-	1	586	c.168C>A	c.(166-168)gtC>gtA	p.V56V		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	56					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				ACAAGCTGATGACACCCAGAG	0.473000													12	70					4.3838e-07	4.62962e-07	1	1	0
ABCA1	19	broad.mit.edu	37	9	107578573	107578573	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:107578573C>A	ENST00000374736.3	-	25	3983	c.3589G>T	c.(3589-3591)Gtg>Ttg	p.V1197L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1197					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGTCTTCCACCAGCCGGGCT	0.517000													6	73					1.26484e-09	1.38765e-09	1	1	0
BICC1	80114	broad.mit.edu	37	10	60546740	60546740	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr10:60546740G>A	ENST00000373886.3	+	5	449	c.445G>A	c.(445-447)Ggc>Agc	p.G149S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	149	KH 1.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACATGTAATCGGCAAAGGTGG	0.368000													7	67					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28330378	28330378	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr16:28330378G>A	ENST00000341901.4	+	3	1078	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	97	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CTTCCTACGGGAGGTGAGCAT	0.512000													37	145					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85674213	85674213	+	Silent	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:85674213C>T	ENST00000316824.3	+	1	329	c.174C>T	c.(172-174)cgC>cgT	p.R58R		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	58					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCCTGCCCCGCGCCGAGCATC	0.647000													4	70					0	0	1	0	0
FEZF2	55079	broad.mit.edu	37	3	62355881	62355881	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr3:62355881G>A	ENST00000283268.3	-	5	1551	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C	FEZF2_ENST00000486811.1_Silent_p.C419C|FEZF2_ENST00000475839.1_Silent_p.C419C	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	419					transcription, DNA-dependent	nucleus	zinc ion binding	p.C419C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CGCAAGTGGCGCACGTGAAAG	0.522000													5	146					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718758	140718758	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:140718758C>A	ENST00000394576.2	+	1	220	c.220C>A	c.(220-222)Ctc>Atc	p.L74I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.L74F(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGTCCCAGCTCTTTGCTCT	0.592000													15	95					3.52763e-06	3.65709e-06	1	1	0
FRRS1L	23732	broad.mit.edu	37	9	111903627	111903627	+	Silent	SNP	A	A	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:111903627A>G	ENST00000374581.3	-	4	857	c.858T>C	c.(856-858)atT>atC	p.I286I		NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN	ferric-chelate reductase 1-like	286						integral to membrane											GCTTACCCTGAATGGCTGGAC	0.433000													10	44					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476476	140476476	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:140476476C>T	ENST00000194155.4	+	1	2250	c.2102C>T	c.(2101-2103)tCg>tTg	p.S701L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		701					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCTTCGCTCTTCCTC	0.697000													23	173					0	0	1	0	0
PTP4A3	11156	broad.mit.edu	37	8	142432392	142432392	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr8:142432392C>T	ENST00000520105.1	+	2	995	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	PTP4A3_ENST00000521578.1_Missense_Mutation_p.R18C|PTP4A3_ENST00000524028.1_Missense_Mutation_p.R18C|PTP4A3_ENST00000329397.1_Missense_Mutation_p.R18C|PTP4A3_ENST00000349124.1_Missense_Mutation_p.R18C			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	18						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			CAAACACATGCGCTTCCTCAT	0.657000													26	155					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35470193	35470193	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:35470193G>A	ENST00000353139.5	-	51	6763	c.6282C>T	c.(6280-6282)taC>taT	p.Y2094Y	ACACA_ENST00000361253.5_Silent_p.Y183Y|ACACA_ENST00000360679.3_Silent_p.Y1999Y|ACACA_ENST00000335166.5_Silent_p.Y1979Y|ACACA_ENST00000394406.2_Silent_p.Y2057Y	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2057	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCACTTGGTCGTACATATCTA	0.478000													4	36					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													5	32					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	rs144467940	by1000genomes	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453000													15	122					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45387290	45387290	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr15:45387290C>A	ENST00000389039.6	-	32	4625		c.e32-1		DUOX2_ENST00000603300.1_Splice_Site			Q9NRD8	DUOX2_HUMAN	dual oxidase 2						cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGAAGTAGATCTGGGGACACA	0.597000													4	32					0.014758	0.0148898	1	1	0
VCAN	1462	broad.mit.edu	37	5	82815253	82815253	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:82815253T>G	ENST00000265077.3	+	7	1693	c.1128T>G	c.(1126-1128)gaT>gaG	p.D376E	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.D376E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D328E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	376	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGGTTTCTGATAGAACTACAC	0.398000													4	109					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40041963	40041963	+	Splice_Site	SNP	C	C	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr20:40041963C>G	ENST00000373233.3	-	35	7309		c.e35+1		CHD6_ENST00000480022.1_Splice_Site	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAAACACTTACTGCCCCAAAG	0.502000													10	95					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976330	131976330	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:131976330G>A	ENST00000356920.5	+	1	449	c.355G>A	c.(355-357)Gct>Act	p.A119T	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.A119T	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	119							ATP binding										CAAGGTGGGCGCTTGGGGAGA	0.597000													15	144					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72176267	72176267	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr14:72176267G>A	ENST00000555818.1	+	15	4505	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1365Q|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R840Q|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1365Q	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1386	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGCCTGGACCGGAAAACAGAG	0.552000													10	39					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256708	240256708	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:240256708G>A	ENST00000319653.9	+	1	1529	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	433					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATCACTCCCCGTCTCAGTCCC	0.672000													14	86					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184106781	184106781	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr3:184106781G>A	ENST00000204604.1	+	22	3056	c.2810G>A	c.(2809-2811)cGg>cAg	p.R937Q	CHRD_ENST00000450923.1_Missense_Mutation_p.R937Q|CHRD_ENST00000348986.3_Missense_Mutation_p.R897Q|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.R479Q	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	937					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCACCGGCGGCGTAAGTGA	0.637000													5	27					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831670	7831670	+	Missense_Mutation	SNP	G	G	A	rs150860249		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr19:7831670G>A	ENST00000327325.5	+	5	1031	c.913G>A	c.(913-915)Gta>Ata	p.V305I	CLEC4M_ENST00000357361.2_Missense_Mutation_p.V305I|CLEC4M_ENST00000248228.4_Missense_Mutation_p.V283I|CLEC4M_ENST00000597522.1_Missense_Mutation_p.V213I|CLEC4M_ENST00000394122.2_Missense_Mutation_p.V293I|CLEC4M_ENST00000595496.1_Missense_Mutation_p.V169I|CLEC4M_ENST00000596707.1_Missense_Mutation_p.V238I|CLEC4M_ENST00000359059.5_Missense_Mutation_p.V238I|CLEC4M_ENST00000596363.1_Missense_Mutation_p.V277I|CLEC4M_ENST00000334806.5_Missense_Mutation_p.V254I	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	305	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CCAGCTCGTCGTAATCAAAAC	0.587000													4	87					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121414336	121414336	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr11:121414336G>A	ENST00000260197.7	+	13	1894	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	589					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTCCTCACAGAACCTGGGGA	0.502000													14	146					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53496504	53496504	+	Nonsense_Mutation	SNP	C	C	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr16:53496504C>G	ENST00000262133.6	+	11	1634	c.1497C>G	c.(1495-1497)taC>taG	p.Y499*	RBL2_ENST00000544545.1_Nonsense_Mutation_p.Y283*|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	499	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGATGCTTTACTATAAAGTAT	0.333000													14	35					0	0	1	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291825	5291825	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr18:5291825G>A	ENST00000357006.4	-	4	720	c.382C>T	c.(382-384)Cgt>Tgt	p.R128C	ZBTB14_ENST00000400143.3_Missense_Mutation_p.R128C	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		GACACATCACGCTTCTGAGAA	0.413000													4	85					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160275290	160275290	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:160275290C>T	ENST00000241704.7	-	17	1829	c.1600G>A	c.(1600-1602)Gcc>Acc	p.A534T	COPA_ENST00000368069.3_Missense_Mutation_p.A543T	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	534					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCATCCCAGGCCCCACTCTTG	0.438000													12	78					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3789597	3789597	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr16:3789597C>A	ENST00000262367.5	-	25	5071	c.4262G>T	c.(4261-4263)tGc>tTc	p.C1421F	CREBBP_ENST00000382070.3_Missense_Mutation_p.C1383F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1421	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.C1421Y(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGAGGGGGGCAATCAGAGCC	0.502000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						11	44					1.61879e-10	1.79337e-10	1	1	0
SSTR3	6753	broad.mit.edu	37	22	37603255	37603255	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr22:37603255G>A	ENST00000328544.3	-	2	1121	c.588C>T	c.(586-588)ccC>ccT	p.P196P	SSTR3_ENST00000402501.1_Silent_p.P196P	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	196					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CCGCCGGCTCGGGCCACTGCA	0.692000													4	11					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96762259	96762259	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:96762259G>A	ENST00000295266.4	+	1	1021	c.958G>A	c.(958-960)Gat>Aat	p.D320N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	320					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AATTCTCCAAGATAGAATGGT	0.418000													7	70					0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96409361	96409361	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:96409361C>T	ENST00000228740.2	-	11	1200	c.1059_splice	c.e11+1	p.S353_splice	LTA4H_ENST00000413268.2_Splice_Site_p.S329_splice|LTA4H_ENST00000552789.1_Splice_Site_p.S329_splice	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	353					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						ACTCCTTTACCGAATTCTGTA	0.378000											OREG0022040	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	87					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69327597	69327597	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:69327597G>A	ENST00000305363.4	+	2	134	c.70G>A	c.(70-72)Gtc>Atc	p.V24I		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	24					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TATCGGCCTCGTCATCTTCAT	0.423000													6	277					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25813193	25813193	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr6:25813193T>C	ENST00000244527.4	-	8	878	c.763A>G	c.(763-765)Atc>Gtc	p.I255V	SLC17A1_ENST00000468082.1_Intron|SLC17A1_ENST00000476801.1_Missense_Mutation_p.I255V|SLC17A1_ENST00000427328.1_Intron	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	255					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						ATAGCCTTGATAGGCAGAGAT	0.388000													5	77					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		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)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								5	41					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31244771	31244771	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:31244771C>T	ENST00000407793.2	+	10	1459	c.1208C>T	c.(1207-1209)aCg>aTg	p.T403M	DDX11_ENST00000545668.1_Missense_Mutation_p.T403M|DDX11_ENST00000542838.1_Missense_Mutation_p.T403M|DDX11_ENST00000350437.4_Missense_Mutation_p.T403M|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.T377M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	403	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GACACCATCACGGGCATGCAC	0.667000										Multiple Myeloma(12;0.14)			11	102					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15568081	15568081	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chrX:15568081G>A	ENST00000357607.2	+	18	2102	c.1914G>A	c.(1912-1914)tcG>tcA	p.S638S	BMX_ENST00000348343.6_Silent_p.S638S|BMX_ENST00000342014.6_Silent_p.S638S			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	638	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ACCTGGCATCGGACACCATCT	0.577000													19	104					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52710659	52710659	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:52710659G>T	ENST00000293670.3	-	5	961	c.899C>A	c.(898-900)tCc>tAc	p.S300Y		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	300	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGATACCAGGACTCGGCCTC	0.562000													5	107					0.0293803	0.0293803	1	1	0
PCGF1	84759	broad.mit.edu	37	2	74733307	74733307	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:74733307C>T	ENST00000233630.6	-	4	1336		c.e4+1		PCGF1_ENST00000480844.2_Splice_Site	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						CAAGGACATACCTTCCCCAGT	0.527000													49	146					0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182025763	182025763	+	Silent	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:182025763C>T	ENST00000339948.3	-	2	1590	c.1383G>A	c.(1381-1383)tcG>tcA	p.S461S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S461S(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCACGAGGCGCGAGGGCTGCG	0.667000													3	15					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611652	50611652	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:50611652G>A	ENST00000444124.2	-	2	332	c.132C>T	c.(130-132)gcC>gcT	p.A44A	DDC_ENST00000357936.5_Silent_p.A44A|DDC_ENST00000380984.4_Silent_p.A44A|DDC_ENST00000431062.1_Silent_p.A44A|DDC_ENST00000426377.1_Silent_p.A44A	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	44					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GAGGGGCAGCGGCAGGGATCA	0.557000													7	217					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46197071	46197071	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr18:46197071G>A	ENST00000256413.3	+	6	758	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	CTIF_ENST00000382998.4_Missense_Mutation_p.G155S	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	155	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	p.G155R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGATGGGGATGGCATCAACCT	0.577000													9	80					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63257049	63257049	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:63257049G>A	ENST00000323865.3	-	1	731	c.498C>T	c.(496-498)ctC>ctT	p.L166L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	166					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GGATAGAGATGAGGAAGCCAA	0.607000													11	141					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28328881	28328881	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr16:28328881C>T	ENST00000341901.4	+	2	958	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	57	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CGAACTAGTCCGGGAGCTGGG	0.627000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	81					0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224831662	224831662	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:224831662C>G	ENST00000258383.3	+	4	979	c.910C>G	c.(910-912)Ctt>Gtt	p.L304V	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	304	DRBM.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCTTAGAAAACTTTATGGATT	0.453000													5	88					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40468799	40468799	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr15:40468799G>A	ENST00000287598.6	+	5	701	c.506G>A	c.(505-507)aGg>aAg	p.R169K	BUB1B_ENST00000412359.3_Missense_Mutation_p.R183K|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	169	BUB1 N-terminal.|Necessary for interaction with CASC5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GAAAACTTTAGGAAAGCAGAT	0.418000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				7	67					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654618	247654618	+	RNA	SNP	T	T	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:247654618T>G	ENST00000522351.1	+	0	249							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACTTCTTTCTTGGGAATCTGT	0.517000													5	41					0	0	1	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14184164	14184164	+	RNA	SNP	A	A	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr18:14184164A>T	ENST00000581935.1	+	0	853																				lung(3)	3						GTAAGGGTCAATTTTTTATAT	0.279000													5	40					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263367	140263367	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:140263367C>T	ENST00000289272.2	+	1	1514	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S505L|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCGCTGTCGAGCTACGTG	0.672000													20	109					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155239601	155239601	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chrX:155239601C>T	ENST00000424344.3	+	10	1397	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.R365C			Q01113	IL9R_HUMAN	interleukin 9 receptor	365					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGCCCAGCGCGTCCTTGGAA	0.662000													9	152					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142264901	142264901	+	Silent	SNP	T	T	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:142264901T>C	ENST00000378004.3	+	5	778	c.423T>C	c.(421-423)taT>taC	p.Y141Y	ARHGAP26_ENST00000274498.4_Silent_p.Y141Y	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	141					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAAAAGTATTGTGGCATCT	0.348000													3	45					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39785411	39785411	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:39785411A>G	ENST00000564288.1	+	31	4798	c.4021A>G	c.(4021-4023)Att>Gtt	p.I1341V	MACF1_ENST00000539005.1_Missense_Mutation_p.I1346V|MACF1_ENST00000545844.1_Missense_Mutation_p.I1346V|MACF1_ENST00000361689.2_Missense_Mutation_p.I1346V|MACF1_ENST00000372915.3_Missense_Mutation_p.I1346V|MACF1_ENST00000567887.1_Missense_Mutation_p.I1378V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.I1346V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1346					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTACTCTACTATTGTAAAGGT	0.358000													4	35					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64814176	64814176	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:64814176C>T	ENST00000332707.5	+	8	1247	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	240	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.R240W(3)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGAAGTTCTACGGGAAGAAGC	0.328000													3	47					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469607	25469607	+	Silent	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:25469607G>A	ENST00000264709.3	-	10	1498	c.1161C>T	c.(1159-1161)tgC>tgT	p.C387C	DNMT3A_ENST00000402667.1_Silent_p.C164C|DNMT3A_ENST00000380746.4_Silent_p.C198C|DNMT3A_ENST00000321117.5_Silent_p.C387C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	387	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGTCGTGGCACACCGGGA	0.647000			"""Mis, F, N, S"""		AML								4	113					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134071624	134071624	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:134071624T>A	ENST00000264360.4	+	1	1155	c.329T>A	c.(328-330)aTc>aAc	p.I110N		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	110	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAGGTGGAGATCGAGGTGCTG	0.577000													10	104					0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45254511	45254511	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr19:45254511G>T	ENST00000164227.5	+	2	528	c.284G>T	c.(283-285)cGg>cTg	p.R95L		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	95	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				TACCCCACTCGGGCCATGGGC	0.607000			T	IGH@	CLL								11	89					1.08611e-07	1.15783e-07	1	1	0
GGTLC1	92086	broad.mit.edu	37	20	23966523	23966523	+	Silent	SNP	C	C	T	rs3865760		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr20:23966523C>T	ENST00000335694.4	-	4	597	c.393G>A	c.(391-393)acG>acA	p.T131T	GGTLC1_ENST00000286890.4_Silent_p.T131T|GGTLC1_ENST00000278765.4_Silent_p.T131T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	131							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TGGTGATCTGCGTGCCCCCGG	0.652000													28	146					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072242	134072242	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:134072242T>G	ENST00000264360.4	+	1	1773	c.947T>G	c.(946-948)tTg>tGg	p.L316W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	316	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGCGGCGAGTTGGACTATGAA	0.622000													10	103					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19464666	19464666	+	Missense_Mutation	SNP	C	C	T	rs147072344	by1000genomes	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:19464666C>T	ENST00000375267.2	-	60	8744	c.8741G>A	c.(8740-8742)cGg>cAg	p.R2914Q	UBR4_ENST00000375226.2_Missense_Mutation_p.R2890Q|UBR4_ENST00000375217.2_Missense_Mutation_p.R2907Q|UBR4_ENST00000375254.3_Missense_Mutation_p.R2914Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2914					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)		AGCACTGCTCCGGCCAGATAC	0.517000													8	40					0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72859026	72859026	+	Silent	SNP	G	G	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:72859026G>C	ENST00000442102.2	-	12	1604	c.1518C>G	c.(1516-1518)gcC>gcG	p.A506A	FDXR_ENST00000581530.1_Silent_p.A469A|FDXR_ENST00000583917.1_Silent_p.A435A|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000582944.1_Silent_p.A455A|FDXR_ENST00000544854.1_Silent_p.A411A|FDXR_ENST00000420580.2_Silent_p.A423A|FDXR_ENST00000293195.5_Silent_p.A463A|FDXR_ENST00000413947.2_Silent_p.A494A	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	463					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCACCTCCTCGGCATCCAGCT	0.657000													6	84					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103381222	103381222	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:103381222C>G	ENST00000358392.2	-	50	4134	c.3817G>C	c.(3817-3819)Ggg>Cgg	p.G1273R	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1145R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1222R|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1261R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1261	Triple-helical region.				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)		CCTGGGTTCCCTGCTTCTCCA	0.353000													11	80					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134193	21134193	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr22:21134193T>C	ENST00000215727.5	+	2	876	c.593T>C	c.(592-594)aTt>aCt	p.I198T	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.I198T	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	198	Glycosaminoglycan-binding site.				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ATCACGACCATTCATAATCTC	0.428000													9	91					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207647012	207647012	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:207647012T>A	ENST00000367057.3	+	11	2290	c.2101T>A	c.(2101-2103)Tcc>Acc	p.S701T	CR2_ENST00000458541.2_Intron|CR2_ENST00000367058.3_Intron|CR2_ENST00000367059.3_Intron	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	716	Sushi 11.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGGAAACAAATCCATTCACTG	0.458000													12	129					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344479	56344479	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr11:56344479G>A	ENST00000526812.2	-	1	784	c.719C>T	c.(718-720)aCg>aTg	p.T240M		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GGAAGCACACGTAGAAAAGGC	0.448000													16	117					0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152511678	152511678	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr7:152511678C>A	ENST00000256001.8	+	5	514	c.380C>A	c.(379-381)gCa>gAa	p.A127E	ACTR3B_ENST00000537264.1_Missense_Mutation_p.A39E|ACTR3B_ENST00000488782.1_3'UTR|ACTR3B_ENST00000377776.3_Missense_Mutation_p.A127E|ACTR3B_ENST00000397282.2_Missense_Mutation_p.A39E	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	127					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GAGTATCTTGCAGAAATTATG	0.363000													5	62					5.9392e-07	6.21416e-07	1	1	0
SLK	9748	broad.mit.edu	37	10	105781483	105781483	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr10:105781483A>G	ENST00000369755.3	+	18	4098	c.3553A>G	c.(3553-3555)Agg>Ggg	p.R1185G	SLK_ENST00000335753.4_Missense_Mutation_p.R1154G	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1185					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATTGAGACCTAGGAAAAAGGT	0.393000													5	38					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32542793	32542793	+	Missense_Mutation	SNP	G	G	T	rs79708790	byFrequency	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr9:32542793G>T	ENST00000360538.2	-	3	1846	c.1730C>A	c.(1729-1731)tCt>tAt	p.S577Y	TOPORS_ENST00000379858.1_Missense_Mutation_p.S512Y	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	577	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCCTCTTACAGATGAGTTCAG	0.378000													8	92					0.000274275	0.000279217	1	1	0
CYP2B6	1555	broad.mit.edu	37	19	41497219	41497219	+	Silent	SNP	C	C	A			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr19:41497219C>A	ENST00000324071.4	+	1	16	c.9C>A	c.(7-9)ctC>ctA	p.L3L		NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	3					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCATGGAACTCAGCGTCCTCC	0.592000													28	133					8.24728e-16	9.31943e-16	1	1	0
RBM19	9904	broad.mit.edu	37	12	114395756	114395756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr12:114395756G>T	ENST00000545145.2	-	6	749	c.671C>A	c.(670-672)tCg>tAg	p.S224*	RBM19_ENST00000261741.5_Nonsense_Mutation_p.S224*|RBM19_ENST00000392561.3_Nonsense_Mutation_p.S224*	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	224					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTCTTCCTCCGAGGAAGAGGA	0.557000													11	83					2.80697e-09	3.04989e-09	1	1	0
PPP1R12B	4660	broad.mit.edu	37	1	202394713	202394713	+	Silent	SNP	A	A	G	rs147755572	byFrequency	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:202394713A>G	ENST00000406302.3	+	4	714	c.561A>G	c.(559-561)tcA>tcG	p.S187S	PPP1R12B_ENST00000356764.2_Silent_p.S187S|PPP1R12B_ENST00000336894.4_Silent_p.S187S|PPP1R12B_ENST00000480184.1_Silent_p.S187S	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	187					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TAGAGCAGTCAAGAAAAGAAG	0.478000													9	310					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114262919	114262919	+	Silent	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr4:114262919C>T	ENST00000357077.4	+	33	4022	c.3969C>T	c.(3967-3969)tgC>tgT	p.C1323C	ANK2_ENST00000509550.1_Silent_p.C499C|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000264366.6_Silent_p.C1290C|ANK2_ENST00000394537.3_Silent_p.C1323C|ANK2_ENST00000506722.1_Silent_p.C1314C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1290					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.C1323C(1)		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)		AAATTATCTGCGTACCTTATA	0.378000													8	109					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129761945	129761945	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chrX:129761945C>T	ENST00000338144.3	-	15	2105	c.1688G>A	c.(1687-1689)cGt>cAt	p.R563H	ENOX2_ENST00000370935.1_Missense_Mutation_p.R534H|ENOX2_ENST00000370927.1_Missense_Mutation_p.R563H|ENOX2_ENST00000394363.1_Missense_Mutation_p.R534H	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	563					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ATTATCAAGACGGTGCAAGTA	0.433000													21	153					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	135965292	135965292	+	Silent	SNP	T	T	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:135965292T>C	ENST00000401392.1	-	19	2927	c.2715A>G	c.(2713-2715)gaA>gaG	p.E905E	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Silent_p.E905E|ZRANB3_ENST00000264159.6_Silent_p.E907E			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	907						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTGGATTTCCTTCATTATCCA	0.468000													6	152					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61615533	61615533	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:61615533C>G	ENST00000583023.1	+	7	1620	c.1609C>G	c.(1609-1611)Cgc>Ggc	p.R537G	KCNH6_ENST00000581784.1_Missense_Mutation_p.R484G|KCNH6_ENST00000314672.5_Missense_Mutation_p.R537G|KCNH6_ENST00000456941.2_Missense_Mutation_p.R484G	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	537					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGAGTTCATCCGCTTCCACCA	0.617000													9	79					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65058924	65058924	+	Missense_Mutation	SNP	G	G	T	rs145570663		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:65058924G>T	ENST00000380985.5	+	3	617	c.439G>T	c.(439-441)Gtt>Ttt	p.V147F	NLN_ENST00000502464.1_Missense_Mutation_p.V43F	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	147					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGAGAGAATTGTTCATTTACA	0.343000													6	50					3.59834e-05	3.69647e-05	1	1	0
CENPF	1063	broad.mit.edu	37	1	214813371	214813371	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:214813371G>T	ENST00000366955.3	+	12	1858	c.1690G>T	c.(1690-1692)Gaa>Taa	p.E564*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	564					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGCTGATCTGGAAAAGCAGCG	0.368000													26	156					2.41591e-17	2.78569e-17	1	1	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													8	9	---	---	---	---					
SH2D5	400745	broad.mit.edu	37	1	21050684	21050684	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr1:21050684delA	ENST00000375031.1	-	6	1063	c.439delT	c.(439-441)cgfs	p.S147fs	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Frame_Shift_Del_p.S231fs	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	147										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCGTGGGCGAGCAGTAGGGA	0.677													10	178	---	---	---	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:96919781_96919783delTGC	ENST00000258439.2	-	4	736_738	c.480_482delGCA	c.(478-483)cat>ca	p.QH160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													8	410	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)del	p.E155del	ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													8	254	---	---	---	---					
BTNL3	10917	broad.mit.edu	37	5	180419832	180419833	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr5:180419832_180419833insCC	ENST00000342868.6	+	2	253_254	c.69_70insCC	c.(67-72)ggcgggfs	p.G24fs		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	24					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AAGTCACTGGACCGGGCAAGTT	0.554													12	33	---	---	---	---					
OR5M11	219487	broad.mit.edu	37	11	56310657	56310658	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr11:56310657_56310658delAG	ENST00000528616.2	-	1	99_100	c.76_77delCT	c.(76-78)gfs	p.L27fs		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CACAAAAAGCAGAGACTGGAGT	0.475													7	116	---	---	---	---					
DDX24	57062	broad.mit.edu	37	14	94517596	94517598	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr14:94517596_94517598delTCT	ENST00000330836.5	-	9	2650_2652	c.2519_2521delAGA	c.(2518-2523)aca>a	p.KT840del	DDX24_ENST00000544005.1_In_Frame_Del_p.KT590del|DDX24_ENST00000555054.1_In_Frame_Del_p.KT797del|DDX24_ENST00000553400.1_5'UTR	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	840	Poly-Lys.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGCTTCTTTGTCTTCTTCTTCTT	0.512											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	88	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578397	7578398	+	Frame_Shift_Ins	INS	-	-	GG	rs68130327		TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr17:7578397_7578398insGG	ENST00000420246.2	-	5	664_665	c.532_533insCC	c.(532-534)ccafs	p.P178fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P178fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	178	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178P(6)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCGCTCATGGTGGGGGCAGCGC	0.644		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)			33	41	---	---	---	---					
GDF5	8200	broad.mit.edu	37	20	34025503	34025504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6IJ-01A-11D-A31L-08	TCGA-QK-A6IJ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a5ddac-2cac-42d8-8bda-81767058a6fd	815eab43-7e6a-469f-98e1-fae8f0c5108d	g.chr20:34025503_34025504insC	ENST00000374372.1	-	3	708_709	c.205_206insG	c.(205-207)cacfs	p.H69fs	GDF5_ENST00000374369.3_Frame_Shift_Ins_p.H69fs			P43026	GDF5_HUMAN	growth differentiation factor 5	69					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGCATTGGTGGCCCCCCCACCA	0.663													53	25	---	---	---	---