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
ZFHX4	79776	broad.mit.edu	37	8	77616511	77616511	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:77616511G>T	ENST00000521891.2	+	2	636	c.188G>T	c.(187-189)gGt>gTt	p.G63V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G63V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G63V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G63V|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	63						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTTGCTGGGTTTCAGCGTT	0.498000										HNSCC(33;0.089)			21	78					1.40151e-16	3.05784e-16	0.001523	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		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.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(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)		TGGCCCAGCTCCTCAGCCAGG	0.726000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			19	23					2.35188e-11	5.01735e-11	0.006122	1	0
NLGN1	22871	broad.mit.edu	37	3	173998386	173998386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:173998386G>T	ENST00000457714.1	+	7	2194	c.1765G>T	c.(1765-1767)Gga>Tga	p.G589*	NLGN1_ENST00000545397.1_Nonsense_Mutation_p.G589*|NLGN1_ENST00000401917.3_Nonsense_Mutation_p.G629*|NLGN1_ENST00000361589.4_Nonsense_Mutation_p.G589*	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	606					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCTCCATATTGGATTAAAACC	0.393000													8	71					3.09899e-07	6.19797e-07	0.004482	1	0
C3orf38	285237	broad.mit.edu	37	3	88202409	88202409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:88202409C>T	ENST00000318887.3	+	2	473	c.163C>T	c.(163-165)Caa>Taa	p.Q55*	C3orf38_ENST00000464919.1_3'UTR|C3orf38_ENST00000486971.1_Nonsense_Mutation_p.Q55*	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	55					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGCATACAGTCAAAGTGCAGA	0.383000													8	32					0	0	0.003080	0	0
LNX1	84708	broad.mit.edu	37	4	54362403	54362403	+	Silent	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:54362403G>A	ENST00000306888.2	-	5	1100	c.849C>T	c.(847-849)agC>agT	p.S283S	LNX1_ENST00000263925.7_Silent_p.S379S|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	379	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCACATGAAAGCTGTCATCTC	0.542000													25	95					0	0	0.003330	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62647977	62647977	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:62647977C>T	ENST00000337910.5	-	6	1786	c.1449G>A	c.(1447-1449)acG>acA	p.T483T	RHOBTB1_ENST00000357917.4_Silent_p.T483T	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CACCCGAGAACGTTCCCTTGC	0.463000													4	19					0	0	0.000248	0	0
FAM98C	147965	broad.mit.edu	37	19	38897630	38897630	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:38897630C>T	ENST00000588262.1	+	4	449	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	FAM98C_ENST00000252530.5_Silent_p.H277H|FAM98C_ENST00000343358.7_Intron			Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	0										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCATTGCACACGTTCTGGCTG	0.612000													32	102					0	0	0.002445	0	0
VIPR2	7434	broad.mit.edu	37	7	158824757	158824757	+	Splice_Site	SNP	T	T	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:158824757T>C	ENST00000262178.2	-	11	1158	c.971_splice	c.e11-1	p.R325_splice	VIPR2_ENST00000377633.3_Splice_Site_p.R309_splice|VIPR2_ENST00000402066.1_Splice_Site_p.R466_splice	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	325					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TTGGCCAGCCTCCTGCACAGA	0.602000													6	35					0	0	0.001168	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													4	20					0	0	0.000248	0	0
TRPM2	7226	broad.mit.edu	37	21	45820227	45820227	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr21:45820227T>G	ENST00000397928.1	+	15	2739	c.2294T>G	c.(2293-2295)cTg>cGg	p.L765R	TRPM2_ENST00000397932.2_Missense_Mutation_p.L765R|TRPM2_ENST00000300482.5_Missense_Mutation_p.L765R|TRPM2_ENST00000300481.9_Missense_Mutation_p.L745R|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	765						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCCTTCCCGCTGCTCCTCACC	0.692000													11	22					0	0	0.000978	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													4	89					0	0	0.000248	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													5	52					0	0	0.000602	0	0
FLVCR2	55640	broad.mit.edu	37	14	76088433	76088433	+	Silent	SNP	G	G	A	rs143118396		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr14:76088433G>A	ENST00000238667.4	+	2	1037	c.681G>A	c.(679-681)gcG>gcA	p.A227A	FLVCR2_ENST00000553587.1_5'UTR|FLVCR2_ENST00000539311.1_Silent_p.A22A|FLVCR2_ENST00000556241.1_3'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	227					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTGGAATTGCGATTGGGTTCT	0.433000													33	208					0	0	0.002836	0	0
SCML2	10389	broad.mit.edu	37	X	18323203	18323203	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chrX:18323203C>T	ENST00000251900.4	-	7	778	c.619G>A	c.(619-621)Gat>Aat	p.D207N		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	207					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTCCAGCCATCAAATGTGATA	0.458000													50	74					0	0	0.003610	0	0
PRF1	5551	broad.mit.edu	37	10	72358341	72358341	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:72358341C>T	ENST00000441259.1	-	3	1296	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	PRF1_ENST00000373209.2_Missense_Mutation_p.R379Q	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	379	EGF-like.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TGGGCACGGCCGGCTGCAGTC	0.701000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				4	22					0	0	0.000248	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													3	50					0	0	0.000248	0	0
ZNF536	9745	broad.mit.edu	37	19	31039973	31039973	+	Silent	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:31039973C>A	ENST00000355537.3	+	4	3594	c.3447C>A	c.(3445-3447)atC>atA	p.I1149I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCATCCTGATCCCCGAAACCA	0.552000													12	59					2.80697e-09	5.79504e-09	0.000978	1	0
PANK4	55229	broad.mit.edu	37	1	2451776	2451776	+	Silent	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:2451776C>A	ENST00000378466.3	-	5	696	c.684G>T	c.(682-684)ctG>ctT	p.L228L	PANK4_ENST00000435556.3_Silent_p.L189L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	228					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TTTTGGTGAGCAGAGCGCCAA	0.647000													13	50					3.27435e-08	6.68804e-08	0.002450	1	0
NUSAP1	51203	broad.mit.edu	37	15	41643315	41643315	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr15:41643315G>A	ENST00000260359.6	+	4	655	c.391G>A	c.(391-393)Gct>Act	p.A131T	NUSAP1_ENST00000560747.1_Missense_Mutation_p.A145T|NUSAP1_ENST00000560177.1_Missense_Mutation_p.A145T|NUSAP1_ENST00000559596.1_Missense_Mutation_p.A146T|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450318.1_Missense_Mutation_p.A146T|NUSAP1_ENST00000450592.2_Missense_Mutation_p.A123T|NUSAP1_ENST00000414849.2_Missense_Mutation_p.A146T	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	146					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		AGCTGAGAATGCTGTTTCCTC	0.418000													8	31					0	0	0.003080	0	0
GLCCI1	113263	broad.mit.edu	37	7	8095132	8095132	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:8095132C>T	ENST00000223145.5	+	4	1323	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	256										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GGAGAAAGATCGCCAGTCACC	0.423000													6	52					0	0	0.003080	0	0
FAM71B	153745	broad.mit.edu	37	5	156592924	156592924	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr5:156592924C>T	ENST00000302938.4	-	1	351	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	86						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAACCATGACGTCAGGCAGT	0.542000													19	76					0	0	0.007413	0	0
VPS41	27072	broad.mit.edu	37	7	38835131	38835131	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:38835131C>A	ENST00000310301.4	-	9	705	c.651G>T	c.(649-651)atG>atT	p.M217I	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.M192I	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	217					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGCAGGGATACATGTCTGGGC	0.443000													9	50					2.17888e-05	4.26882e-05	0.006214	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	68					0	0	0.000248	0	0
FAXDC2	10826	broad.mit.edu	37	5	154214197	154214197	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr5:154214197G>A	ENST00000326080.5	-	4	655	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	FAXDC2_ENST00000520968.1_Missense_Mutation_p.L78F|FAXDC2_ENST00000523997.1_5'UTR|FAXDC2_ENST00000518651.1_Missense_Mutation_p.L55F|FAXDC2_ENST00000517938.1_Missense_Mutation_p.L55F	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		ATAAAGAAGAGGATCCACTCC	0.453000													11	32					0	0	0.001368	0	0
ALKBH7	84266	broad.mit.edu	37	19	6374915	6374915	+	Silent	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:6374915C>G	ENST00000245812.3	+	4	985	c.597C>G	c.(595-597)tcC>tcG	p.S199S	ALKBH7_ENST00000599849.1_Silent_p.S138S|ALKBH7_ENST00000596657.1_Silent_p.S57S	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	199						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCGCATCTCCGTGATCTGCC	0.637000													15	41					0	0	0.004007	0	0
TRGC2	6967	broad.mit.edu	37	7	38289168	38289168	+	RNA	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:38289168G>T	ENST00000436911.2	-	0	5																											GCATCAAGTTGTTTATCTATG	0.383000													44	156					5.34276e-22	1.17909e-21	0.003610	1	0
RYR3	6263	broad.mit.edu	37	15	34105782	34105782	+	Splice_Site	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr15:34105782C>A	ENST00000389232.4	+	74	10572		c.e74+2		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGCCCAGGCAAGTATTTTG	0.502000													14	62					4.3838e-07	8.67721e-07	0.001855	1	0
MMS22L	253714	broad.mit.edu	37	6	97677102	97677102	+	Silent	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:97677102G>C	ENST00000275053.4	-	14	1972	c.1707C>G	c.(1705-1707)ctC>ctG	p.L569L	MMS22L_ENST00000369251.2_Silent_p.L529L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	569					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CCTTCCAAATGAGGGCTCTCT	0.448000													14	46					0	0	0.002450	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411904	23411904	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chrX:23411904T>G	ENST00000379361.4	+	3	3129	c.2269T>G	c.(2269-2271)Tta>Gta	p.L757V		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	757					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGTGCTATGCTTAATTTATGG	0.378000													19	22					0	0	0.007413	0	0
ENPP1	5167	broad.mit.edu	37	6	132204896	132204896	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:132204896A>T	ENST00000360971.2	+	22	2313	c.2293A>T	c.(2293-2295)Atg>Ttg	p.M765L		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	765	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATAGTGCCAATGTACCAGAG	0.279000													13	70					0	0	0.003163	0	0
ADAM29	11086	broad.mit.edu	37	4	175898390	175898390	+	Missense_Mutation	SNP	C	C	A	rs146793989		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:175898390C>A	ENST00000359240.3	+	5	2384	c.1714C>A	c.(1714-1716)Cat>Aat	p.H572N	ADAM29_ENST00000404450.4_Missense_Mutation_p.H572N|ADAM29_ENST00000514159.1_Missense_Mutation_p.H572N|ADAM29_ENST00000445694.1_Missense_Mutation_p.H572N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	572	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TACTACTGTGCATTGGGCTCG	0.408000													22	104					1.50039e-11	3.2368e-11	0.001882	1	0
AXDND1	126859	broad.mit.edu	37	1	179437611	179437611	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:179437611C>G	ENST00000367618.3	+	17	2219	c.1832C>G	c.(1831-1833)tCt>tGt	p.S611C	AXDND1_ENST00000457238.2_3'UTR|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	611										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TTGATTAGTTCTCTTGACTTC	0.299000													11	39					0	0	0.008291	0	0
SBF2	81846	broad.mit.edu	37	11	10064502	10064502	+	Silent	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:10064502C>A	ENST00000256190.8	-	3	305	c.168G>T	c.(166-168)ctG>ctT	p.L56L	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	56	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCTCTCTGGACAGCTGCCACC	0.378000													11	45					0.000219431	0.000425564	0.002450	1	0
NAV2	89797	broad.mit.edu	37	11	20139697	20139697	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:20139697C>T	ENST00000396085.1	+	39	7553	c.7192C>T	c.(7192-7194)Ctg>Ttg	p.L2398L	NAV2_ENST00000311043.8_Silent_p.L1459L|NAV2_ENST00000349880.4_Silent_p.L2395L|NAV2_ENST00000533917.1_Silent_p.L1459L|NAV2_ENST00000527559.2_Silent_p.L2383L|NAV2_ENST00000396087.3_Silent_p.L2454L|NAV2_ENST00000540292.1_Silent_p.L2385L|NAV2_ENST00000360655.4_Silent_p.L2331L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2454						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCTGATGAGGCTGCAGGAGGC	0.552000													15	87					0	0	0.004007	0	0
LGALSL	29094	broad.mit.edu	37	2	64683576	64683576	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:64683576T>C	ENST00000238875.5	+	4	806	c.352T>C	c.(352-354)Ttc>Ctc	p.F118L	LGALSL_ENST00000409537.2_Intron	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	118	Galectin.					intracellular	sugar binding										TTACTTTCCATTCATTCCAGA	0.493000													31	168					0	0	0.003271	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715993	13715993	+	Silent	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr12:13715993G>A	ENST00000279593.3	-	13	4388	c.4179C>T	c.(4177-4179)gaC>gaT	p.D1393D		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1393					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.D1393E(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCACTGGTCGTCCCCAAAAG	0.617000													9	43					0	0	0.004482	0	0
PTCH1	5727	broad.mit.edu	37	9	98229683	98229683	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr9:98229683C>G	ENST00000430669.2	-	15	2662	c.2077G>C	c.(2077-2079)Ggc>Cgc	p.G693R	PTCH1_ENST00000421141.1_Missense_Mutation_p.G608R|PTCH1_ENST00000418258.1_Missense_Mutation_p.G608R|PTCH1_ENST00000331920.6_Missense_Mutation_p.G759R|PTCH1_ENST00000429896.2_Missense_Mutation_p.G608R|PTCH1_ENST00000437951.1_Missense_Mutation_p.G693R|PTCH1_ENST00000375274.2_Missense_Mutation_p.G758R			Q13635	PTC1_HUMAN	patched 1	759					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCCAGCAAGCCCAGAAAAAGG	0.527000													19	32					0	0	0.007413	0	0
SLC9C2	284525	broad.mit.edu	37	1	173493986	173493986	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:173493986G>T	ENST00000367714.3	-	20	2868	c.2446C>A	c.(2446-2448)Cta>Ata	p.L816I	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	816					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AGATTTTTTAGAGCTTTAGCA	0.373000													13	50					2.27111e-07	4.59003e-07	0.001368	1	0
RARRES2	5919	broad.mit.edu	37	7	150037213	150037213	+	Silent	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:150037213G>C	ENST00000466675.1	-	2	1288	c.255C>G	c.(253-255)ccC>ccG	p.P85P	RARRES2_ENST00000223271.3_Silent_p.P85P|RARRES2_ENST00000482669.1_Silent_p.P85P			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	85					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTTTGCACTCGGGTTTCTTCC	0.582000													9	566					0	0	0.004482	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													5	53					0	0	0.000602	0	0
FIBIN	387758	broad.mit.edu	37	11	27016517	27016517	+	Silent	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:27016517G>A	ENST00000318627.2	+	1	890	c.444G>A	c.(442-444)caG>caA	p.Q148Q		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	148						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AGCAGGGCCAGGAACAGGACA	0.592000													10	44					0	0	0.006214	0	0
HTRA2	27429	broad.mit.edu	37	2	74757782	74757782	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:74757782G>T	ENST00000258080.3	+	2	1175	c.545G>T	c.(544-546)gGc>gTc	p.G182V	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Missense_Mutation_p.G182V	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	182	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ATCTCGAACGGCTCAGGATTC	0.622000													11	53					2.80697e-09	5.79504e-09	0.000978	1	0
PLXDC2	84898	broad.mit.edu	37	10	20357118	20357118	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:20357118A>G	ENST00000377252.3	+	4	1332	c.491A>G	c.(490-492)gAt>gGt	p.D164G	PLXDC2_ENST00000377242.3_Missense_Mutation_p.D115G|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	164						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTGTCCTTCGATTTTCCATTT	0.393000													6	48					0	0	0.003080	0	0
MUC17	140453	broad.mit.edu	37	7	100679245	100679245	+	Silent	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:100679245A>G	ENST00000306151.4	+	3	4612	c.4548A>G	c.(4546-4548)ttA>ttG	p.L1516L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1516	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACTGCATTAACAAGTATAC	0.483000													55	234					0	0	0.003610	0	0
GABRB3	2562	broad.mit.edu	37	15	26866602	26866602	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr15:26866602G>A	ENST00000541819.2	-	5	590	c.488C>T	c.(487-489)aCg>aTg	p.T163M	GABRB3_ENST00000400188.3_Missense_Mutation_p.T36M|GABRB3_ENST00000545868.1_Missense_Mutation_p.T22M|GABRB3_ENST00000311550.5_Missense_Mutation_p.T107M|GABRB3_ENST00000299267.4_Missense_Mutation_p.T107M			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	107					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATTGTCAAGCGTGAGGTTGAG	0.428000													18	76					0	0	0.001523	0	0
UBE4B	10277	broad.mit.edu	37	1	10209286	10209286	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:10209286C>T	ENST00000377157.3	+	19	2962	c.1901C>T	c.(1900-1902)gCg>gTg	p.A634V	UBE4B_ENST00000253251.8_Missense_Mutation_p.A750V|UBE4B_ENST00000343090.6_Missense_Mutation_p.A879V	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	879					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTATTTGCAGCGTTGCCTGAG	0.289000													13	100					0	0	0.007413	0	0
LRP2	4036	broad.mit.edu	37	2	170025080	170025080	+	Silent	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:170025080G>A	ENST00000263816.3	-	61	11889	c.11604C>T	c.(11602-11604)ggC>ggT	p.G3868G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3868	LDL-receptor class A 34.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.G3868G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGAACCATCGCCACAGTCAT	0.453000													6	32					0	0	0.001984	0	0
MYC	4609	broad.mit.edu	37	8	128750945	128750945	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:128750945C>T	ENST00000377970.2	+	2	992	c.482C>T	c.(481-483)tCa>tTa	p.S161L	MYC_ENST00000524013.1_Missense_Mutation_p.S160L|MYC_ENST00000259523.6_Missense_Mutation_p.S146L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	146					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCTCGTCTCAGAGAAGCTG	0.622000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	26					0	0	0.001368	0	0
TEKT5	146279	broad.mit.edu	37	16	10788316	10788316	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr16:10788316G>A	ENST00000283025.2	-	1	486	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	139					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CCCAGGTTCCGGCAGGTGCCC	0.617000													5	175					0	0	0.001168	0	0
CLSTN3	9746	broad.mit.edu	37	12	7289595	7289595	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr12:7289595C>A	ENST00000537408.1	+	6	1673	c.1135C>A	c.(1135-1137)Cag>Aag	p.Q379K	CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q367K			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	367					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTCTGGGCCCCAGGACAGCCT	0.592000													18	57					3.41278e-10	7.2006e-10	0.004990	1	0
EME1	146956	broad.mit.edu	37	17	48452586	48452586	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:48452586C>T	ENST00000393271.2	+	2	99	c.17C>T	c.(16-18)tCa>tTa	p.S6L	EME1_ENST00000511648.2_Missense_Mutation_p.S6L|EME1_ENST00000338165.4_Missense_Mutation_p.S6L	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	6					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CTAAAGAAGTCATCACCCTCA	0.428000								Direct reversal of damage;Homologous recombination					13	58					0	0	0.002450	0	0
ATAD2	29028	broad.mit.edu	37	8	124340642	124340642	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:124340642C>T	ENST00000287394.5	-	25	3763	c.3656G>A	c.(3655-3657)gGa>gAa	p.G1219E	ATAD2_ENST00000521903.1_Missense_Mutation_p.G537E	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CGAAGACTCTCCTGTGTTTCC	0.373000													27	97					0	0	0.006320	0	0
ZNF680	340252	broad.mit.edu	37	7	63982197	63982197	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:63982197T>C	ENST00000309683.6	-	4	1086	c.935A>G	c.(934-936)cAt>cGt	p.H312R		NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				AATTCTCTTATGGTTAGTAAG	0.333000													8	29					0	0	0.003080	0	0
EPHA7	2045	broad.mit.edu	37	6	93955064	93955064	+	Missense_Mutation	SNP	G	G	A	rs151105732	byFrequency	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:93955064G>A	ENST00000369303.4	-	16	3018	c.2834C>T	c.(2833-2835)aCg>aTg	p.T945M		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	945	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCCAGCTGCCGTGAAATTATC	0.363000													14	58					0	0	0.002450	0	0
SYNE1	23345	broad.mit.edu	37	6	152698022	152698022	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:152698022G>C	ENST00000367255.5	-	57	9636	c.9035C>G	c.(9034-9036)gCa>gGa	p.A3012G	SYNE1_ENST00000341594.5_Missense_Mutation_p.A3051G|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3019G|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3012G|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3019G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3012					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTAGGCTCTGCTTTTTGCAA	0.408000										HNSCC(10;0.0054)			7	30					0	0	0.001984	0	0
COL6A6	131873	broad.mit.edu	37	3	130289967	130289967	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:130289967C>T	ENST00000358511.6	+	6	2738	c.2707C>T	c.(2707-2709)Cgg>Tgg	p.R903W	COL6A6_ENST00000453409.2_Missense_Mutation_p.R903W	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	903	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen		p.R903W(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CACTGAAGCCCGGGGCAGCCG	0.542000													4	30					0	0	0.000602	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121608117	121608117	+	Silent	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:121608117A>G	ENST00000393386.2	+	3	648	c.237A>G	c.(235-237)aaA>aaG	p.K79K	PTPRZ1_ENST00000449182.1_Silent_p.K79K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	79	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATCTTAAGAAACTTAAATTTC	0.299000													17	51					0	0	0.004007	0	0
SDK2	54549	broad.mit.edu	37	17	71375666	71375666	+	Silent	SNP	G	G	A	rs141328074		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:71375666G>A	ENST00000392650.3	-	35	4785	c.4785C>T	c.(4783-4785)taC>taT	p.Y1595Y	SDK2_ENST00000388726.3_Silent_p.Y1576Y	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1595	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCCGTATCTCGTACCGCCTGT	0.652000													5	44					0	0	0.001168	0	0
TRIM37	4591	broad.mit.edu	37	17	57158492	57158492	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:57158492C>T	ENST00000376149.3	-	6	901	c.92G>A	c.(91-93)cGt>cAt	p.R31H	TRIM37_ENST00000393066.3_Missense_Mutation_p.R153H|TRIM37_ENST00000393065.2_Missense_Mutation_p.R119H|TRIM37_ENST00000262294.7_Missense_Mutation_p.R153H			O94972	TRI37_HUMAN	tripartite motif containing 37	153						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTCCATGAGACGCCGACGAAG	0.313000									Mulibrey Nanism				40	55					0	0	0.002222	0	0
RBMS3	27303	broad.mit.edu	37	3	30032698	30032698	+	Silent	SNP	T	T	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:30032698T>C	ENST00000434693.2	+	14	2002	c.1302T>C	c.(1300-1302)tcT>tcC	p.S434S	RBMS3_ENST00000383767.2_Silent_p.S435S|RBMS3_ENST00000456853.1_Silent_p.S432S|RBMS3_ENST00000452462.1_Silent_p.S419S|RBMS3_ENST00000273139.9_Silent_p.S419S|RBMS3_ENST00000383766.2_Silent_p.S417S|RBMS3_ENST00000396583.3_Silent_p.S432S	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	435						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				ACCAACAGTCTAAGTAAGTCT	0.453000													15	51					0	0	0.003163	0	0
TRABD2A	129293	broad.mit.edu	37	2	85051144	85051144	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:85051144G>A	ENST00000335459.5	-	5	1325	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	TRABD2A_ENST00000409520.2_Missense_Mutation_p.R423W|TRABD2A_ENST00000479944.1_5'UTR	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		GACCGCCTCCGCTTCTTCCGG	0.657000													7	21					0	0	0.001984	0	0
CD163L1	283316	broad.mit.edu	37	12	7522012	7522012	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr12:7522012G>A	ENST00000313599.3	-	15	4037	c.3980C>T	c.(3979-3981)gCc>gTc	p.A1327V	CD163L1_ENST00000416109.2_Missense_Mutation_p.A1337V|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1327V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1327	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCAGGGTTTGGCGTGACAGTC	0.537000													34	91					0	0	0.003755	0	0
KCTD15	79047	broad.mit.edu	37	19	34297787	34297787	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:34297787G>A	ENST00000284006.5	+	5	514	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	KCTD15_ENST00000430256.2_Missense_Mutation_p.G88S|KCTD15_ENST00000589786.1_Missense_Mutation_p.G88S|KCTD15_ENST00000588881.1_Missense_Mutation_p.G88S	NM_001129994.1|NM_001129995.1|NM_024076.2	NP_001123466.1|NP_001123467.1|NP_076981.2	Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	88	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CCTCTTCAATGGCACTGAACC	0.567000													17	120					0	0	0.008871	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:126707544T>G	ENST00000251772.4	+	1	108	c.39T>G	c.(37-39)ggT>ggG	p.G13G	PLXNA1_ENST00000393409.2_Silent_p.G36G			Q9UIW2	PLXA1_HUMAN	plexin A1	36					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000													6	18					0	0	0.001368	0	0
CCDC50	152137	broad.mit.edu	37	3	191093280	191093280	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:191093280G>A	ENST00000392456.3	+	6	1468	c.878G>A	c.(877-879)gGg>gAg	p.G293E	CCDC50_ENST00000392455.3_Intron	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	24						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GTTGTATATGGGAGGGACCAT	0.517000													20	37					0	0	0.007413	0	0
PAX1	5075	broad.mit.edu	37	20	21687260	21687260	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr20:21687260C>T	ENST00000398485.2	+	2	525	c.471C>T	c.(469-471)acC>acT	p.T157T	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.T133T	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	157	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACAACGAGACCGGCTCCATTC	0.657000													13	52					0	0	0.001855	0	0
SPSB4	92369	broad.mit.edu	37	3	140785630	140785630	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:140785630C>T	ENST00000310546.2	+	2	1428	c.684C>T	c.(682-684)aaC>aaT	p.N228N		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	228	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCTACATCAACGGCCTTGACC	0.632000													11	36					0	0	0.008291	0	0
PSMD11	5717	broad.mit.edu	37	17	30771555	30771555	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:30771555C>G	ENST00000261712.3	+	1	277	c.14C>G	c.(13-15)gCg>gGg	p.A5G	PSMD11_ENST00000457654.2_Missense_Mutation_p.A5G	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			gcggcggcggcggtggtggAG	0.701000													10	11					0	0	0.006214	0	0
PPM1E	22843	broad.mit.edu	37	17	57050198	57050198	+	Silent	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:57050198A>G	ENST00000308249.2	+	6	1251	c.1122A>G	c.(1120-1122)gaA>gaG	p.E374E		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	383	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TTTAGGATGAAAAGCAGAGAA	0.398000													31	49					0	0	0.008361	0	0
METTL21A	151194	broad.mit.edu	37	2	208486636	208486636	+	Silent	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:208486636G>A	ENST00000411432.1	-	3	369	c.153C>T	c.(151-153)atC>atT	p.I51I	METTL21A_ENST00000406927.2_Silent_p.I51I|METTL21A_ENST00000425132.1_Silent_p.I51I|METTL21A_ENST00000272839.3_Silent_p.I51I|METTL21A_ENST00000426075.1_Silent_p.I51I|METTL21A_ENST00000448007.2_Silent_p.I51I|METTL21A_ENST00000458426.1_Silent_p.I51I|METTL21A_ENST00000442521.1_Silent_p.I51I|METTL21A_ENST00000448823.2_Intron|METTL21A_ENST00000432416.1_Silent_p.I51I	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	51						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						TGGAAAGAACGATGGCCTGAA	0.582000													13	58					0	0	0.001855	0	0
NLRP5	126206	broad.mit.edu	37	19	56520174	56520174	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:56520174G>C	ENST00000390649.3	+	3	463	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	155						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGAAGATCCTGAAGCAACGAT	0.478000													3	22					0	0	0.004672	0	0
DOCK1	1793	broad.mit.edu	37	10	129209186	129209186	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr10:129209186G>A	ENST00000280333.6	+	43	4472	c.4363G>A	c.(4363-4365)Gcg>Acg	p.A1455T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1455	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAATGAATTTGCGGTAAAAAA	0.468000													8	21					0	0	0.004482	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								8	54					0	0	0.003080	0	0
SASH1	23328	broad.mit.edu	37	6	148840732	148840732	+	Silent	SNP	C	C	T	rs111245321		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:148840732C>T	ENST00000367467.3	+	10	1387	c.912C>T	c.(910-912)tcC>tcT	p.S304S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	304							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATGAACGGTCCGCCCTCTACT	0.537000													10	40					0	0	0.000978	0	0
GSN	2934	broad.mit.edu	37	9	124091523	124091523	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr9:124091523A>G	ENST00000373823.3	+	23	2800	c.1895A>G	c.(1894-1896)gAg>gGg	p.E632G	GSN_ENST00000394353.2_Missense_Mutation_p.E643G|GSN_ENST00000373806.1_Missense_Mutation_p.E108G|GSN_ENST00000412819.1_Missense_Mutation_p.E632G|GSN_ENST00000373818.4_Missense_Mutation_p.E683G|GSN_ENST00000373807.1_Missense_Mutation_p.E414G|GSN_ENST00000545652.1_Missense_Mutation_p.E640G|GSN_ENST00000449733.1_Missense_Mutation_p.E632G|GSN_ENST00000436847.1_Missense_Mutation_p.E643G|GSN_ENST00000373808.2_Missense_Mutation_p.E632G|GSN_ENST00000341272.2_Missense_Mutation_p.E632G			P06396	GELS_HUMAN	gelsolin	683	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CAGATCGAAGAGGTTCCTGGT	0.577000													35	40					0	0	0.003271	0	0
C14orf105	55195	broad.mit.edu	37	14	57938207	57938207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr14:57938207G>A	ENST00000216445.3	-	6	893	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	C14orf105_ENST00000534126.1_Nonsense_Mutation_p.Q252*|C14orf105_ENST00000422976.2_Nonsense_Mutation_p.Q293*	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	253										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						AGCTGTCCCTGGGCCTCTTGT	0.453000													4	48					0	0	0.000602	0	0
MAPRE3	22924	broad.mit.edu	37	2	27248513	27248513	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:27248513G>A	ENST00000233121.2	+	5	730	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	MAPRE3_ENST00000405074.3_Missense_Mutation_p.V163M|MAPRE3_ENST00000402218.1_Missense_Mutation_p.V163M			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	178					cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGAGCAATGTGGCCCCCCC	0.567000													12	47					0	0	0.002450	0	0
TANGO6	79613	broad.mit.edu	37	16	68914511	68914511	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr16:68914511G>A	ENST00000261778.1	+	7	1367	c.1355G>A	c.(1354-1356)aGa>aAa	p.R452K		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		GAACTTAGTAGATGCATTGAG	0.299000													19	76					0	0	0.001523	0	0
CLIC1	1192	broad.mit.edu	37	6	31698702	31698702	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr6:31698702C>T	ENST00000375780.2	-	7	1215	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	CLIC1_ENST00000375779.2_Missense_Mutation_p.A215T|CLIC1_ENST00000375784.3_Missense_Mutation_p.A215T|CLIC1_ENST00000395892.1_Missense_Mutation_p.A215T			O00299	CLIC1_HUMAN	chloride intracellular channel 1	215	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						TCTTCCCGGGCGTAGGCATTG	0.582000													11	49					0	0	0.008291	0	0
OR9A4	130075	broad.mit.edu	37	7	141619469	141619469	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr7:141619469C>T	ENST00000548136.1	+	1	853	c.794C>T	c.(793-795)aCg>aTg	p.T265M	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCCAAGCAAACGCAGGCAGCT	0.478000													12	66					0	0	0.001368	0	0
LRP1B	53353	broad.mit.edu	37	2	141457979	141457979	+	Silent	SNP	C	C	T	rs143179717	byFrequency	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:141457979C>T	ENST00000389484.3	-	41	7610	c.6639G>A	c.(6637-6639)agG>agA	p.R2213R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2213					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCATATGGCCTTATTGGGG	0.348000										TSP Lung(27;0.18)			22	79					0	0	0.002299	0	0
CHCHD4	131474	broad.mit.edu	37	3	14154580	14154580	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:14154580G>A	ENST00000295767.5	-	4	599	c.275C>T	c.(274-276)aCg>aTg	p.T92M	CHCHD4_ENST00000396914.3_Missense_Mutation_p.T79M	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	79	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GATCTCCTCCGTGCTATAGTG	0.522000													11	29					0	0	0.000978	0	0
SEMA6A	57556	broad.mit.edu	37	5	115831982	115831982	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr5:115831982C>T	ENST00000343348.6	-	5	1094	c.307G>A	c.(307-309)Gat>Aat	p.D103N	SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Missense_Mutation_p.D103N|SEMA6A_ENST00000257414.8_Missense_Mutation_p.D103N|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	103	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTGTCTACatcggcctgtcta	0.418000													16	88					0	0	0.004990	0	0
ABCA10	10349	broad.mit.edu	37	17	67160232	67160232	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:67160232G>C	ENST00000269081.4	-	28	4255	c.3346C>G	c.(3346-3348)Ctt>Gtt	p.L1116V	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1116					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTTGTTAAAAGAATGGTTTTA	0.313000													11	39					0	0	0.000978	0	0
TP53	7157	broad.mit.edu	37	17	7578369	7578369	+	Splice_Site	SNP	A	A	C			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr17:7578369A>C	ENST00000420246.2	-	5	692		c.e5+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(17)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		CCAGCTGCTCACCATCGCTAT	0.632000		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)			22	28					0	0	0.001523	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	by1000genomes	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2																						AATTTGTCAACATTCGTGACA	0.418000													3	51					0	0	0.000248	0	0
COL14A1	7373	broad.mit.edu	37	8	121239492	121239492	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr8:121239492A>G	ENST00000297848.3	+	17	2308	c.2038A>G	c.(2038-2040)Att>Gtt	p.I680V	COL14A1_ENST00000247781.3_Missense_Mutation_p.I585V|COL14A1_ENST00000309791.4_Missense_Mutation_p.I680V|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	680	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTCACATGTTATTGAAGGCCT	0.428000													11	44					0	0	0.008291	0	0
NLRP7	199713	broad.mit.edu	37	19	55435180	55435180	+	Silent	SNP	C	C	T			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:55435180C>T	ENST00000446217.1	-	13	3528	c.3126G>A	c.(3124-3126)aaG>aaA	p.K1042K	NLRP7_ENST00000448121.2_Silent_p.K986K|NLRP7_ENST00000340844.2_Silent_p.K957K|NLRP7_ENST00000328092.5_Silent_p.K986K|NLRP7_ENST00000592784.1_Silent_p.K1014K|NLRP7_ENST00000590030.1_Silent_p.K957K|NLRP7_ENST00000588756.1_Silent_p.K1014K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCTTGGGATTCTTTTCTTTCA	0.448000													35	67					0	0	0.002445	0	0
GRXCR1	389207	broad.mit.edu	37	4	43022418	43022418	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:43022418C>G	ENST00000399770.2	+	3	675	c.675C>G	c.(673-675)gaC>gaG	p.D225E		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	225	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AACTGCAAGACATCCTAACCA	0.308000													8	32					0	0	0.006214	0	0
COBLL1	22837	broad.mit.edu	37	2	165551294	165551294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr2:165551294G>A	ENST00000375458.2	-	11	2829	c.2608C>T	c.(2608-2610)Cag>Tag	p.Q870*	COBLL1_ENST00000409184.3_Nonsense_Mutation_p.Q908*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.Q908*|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.Q975*|COBLL1_ENST00000392717.2_Nonsense_Mutation_p.Q946*	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	946										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTCTGCATCTGCAAAAAAAAA	0.413000													14	43					0	0	0.001855	0	0
OR2T1	26696	broad.mit.edu	37	1	248569358	248569361	+	Frame_Shift_Del	DEL	AATT	AATT	-	rs149888596	by1000genomes	TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr1:248569358_248569361delAATT	ENST00000366474.1	+	1	63_66	c.63_66delAATT	c.(61-66)acfs	p.TI21fs		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCCTAACAATTAATTCACATG	0.338													21	65	---	---	---	---					
AMBN	258	broad.mit.edu	37	4	71472228	71472228	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:71472228delC	ENST00000322937.6	+	13	1228	c.1125delC	c.(1123-1125)ctfs	p.L375fs	AMBN_ENST00000449493.2_Frame_Shift_Del_p.L360fs	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	375					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGAAGGGACTCCCCAGCGTCA	0.562													12	43	---	---	---	---					
SEC24B	10427	broad.mit.edu	37	4	110452620	110452620	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr4:110452620delT	ENST00000265175.5	+	20	3387	c.3332delT	c.(3331-3333)gtfs	p.V1111fs	SEC24B_ENST00000504968.2_Frame_Shift_Del_p.V1141fs|SEC24B_ENST00000399100.2_Frame_Shift_Del_p.V1076fs	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1111					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGCCACTTGTTCATCTAATG	0.353													25	63	---	---	---	---					
CORO1B	57175	broad.mit.edu	37	11	67209168	67209168	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:67209168delG	ENST00000545016.1	-	4	575	c.490delC	c.(490-492)acfs	p.H164fs	CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000453768.2_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGGGGTCCGTGGGGGGGGGGA	0.657													9	33	---	---	---	---					
RP11-360K13.1	0	broad.mit.edu	37	11	96514999	96515001	+	RNA	DEL	AAA	AAA	-	rs112766481		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr11:96514999_96515001delAAA	ENST00000527528.1	+	0	158																											CTTAGTTATTaaaaaaaaaaaaa	0.369													3	6	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51171632	51171634	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr19:51171632_51171634delGCC	ENST00000293441.1	-	22	3601_3603	c.3583_3585delGGC	c.(3583-3585)del	p.G1195del	SHANK1_ENST00000391814.1_In_Frame_Del_p.G1203del|SYT3_ENST00000544769.1_5'UTR|SHANK1_ENST00000391813.1_In_Frame_Del_p.G582del|SHANK1_ENST00000359082.3_In_Frame_Del_p.G1186del	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1195	Poly-Gly.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		tgggcgaggAGCCGCCGCCGCCG	0.808													2	4	---	---	---	---					
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679		TCGA-D6-6825-01A-21D-1912-08	TCGA-D6-6825-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f44db3-84dc-4f96-888d-b0370bf582a5	250f6e68-3d67-48ee-a501-4d91e13dc854	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccc>cc	p.PCCAPS45del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	45	30 X 5 AA repeats of C-C-X(3).					keratin filament		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698													8	15	---	---	---	---