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
HHATL	57467	broad.mit.edu	37	3	42734573	42734573	+	Silent	SNP	G	G	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr3:42734573G>C	ENST00000441594.1	-	11	1647	c.1386C>G	c.(1384-1386)ctC>ctG	p.L462L	HHATL_ENST00000310417.5_Silent_p.L462L	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	462					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CCTCACCTGTGAGTAGCAGGC	0.562000													86	849					0	0	0.870114	0	0
SIX1	6495	broad.mit.edu	37	14	61113191	61113191	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr14:61113191G>C	ENST00000247182.6	-	2	937	c.665C>G	c.(664-666)cCt>cGt	p.P222R	SIX1_ENST00000554986.1_Missense_Mutation_p.P49R	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	222					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		ACTTTGGGGAGGTGAGAATTC	0.547000													16	142					0	0	0.539581	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473194	22473194	+	RNA	SNP	G	G	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr15:22473194G>C	ENST00000557788.2	-	0	76																											TCCTGGGCCCGACTCCTGCAG	0.617000													4	106					0	0	0.248553	0	0
DAND5	199699	broad.mit.edu	37	19	13080792	13080792	+	Silent	SNP	C	C	T			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr19:13080792C>T	ENST00000317060.2	+	1	497	c.318C>T	c.(316-318)ttC>ttT	p.F106F	DAND5_ENST00000585548.1_Silent_p.F136F	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	106	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CTGTGCCCTTCGTTCAGGTGA	0.602000													8	56					0	0	0.278610	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916895	97916895	+	RNA	SNP	C	C	G			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr10:97916895C>G	ENST00000534948.1	+	0	1673							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATGGTGCCACCAGGAGAGAAC	0.353000													8	67					0	0	0.278610	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													3	85					0	0	0.150653	0	0
ANKS1A	23294	broad.mit.edu	37	6	35048843	35048843	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr6:35048843C>G	ENST00000360359.3	+	17	2755	c.2617C>G	c.(2617-2619)Ctg>Gtg	p.L873V	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	873						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTCGGCAGATCTGCTGCTGCC	0.612000													4	149					0	0	0.248553	0	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			27	295					0	0	0.693898	0	0
DAND5	199699	broad.mit.edu	37	19	13080562	13080562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr19:13080562C>T	ENST00000317060.2	+	1	267	c.88C>T	c.(88-90)Cga>Tga	p.R30*	DAND5_ENST00000585548.1_Nonsense_Mutation_p.R60*	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	30						extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CCAGTCTCCTCGACCTCAGTC	0.652000													8	231					0	0	0.387290	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5204861	5204861	+	Silent	SNP	G	G	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr10:5204861G>A	ENST00000334314.3	-	2	292	c.216C>T	c.(214-216)atC>atT	p.I72I						aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TACCATCAGCGATCTTCTCCC	0.443000													9	369					0	0	0.335167	0	0
TP53	7157	broad.mit.edu	37	17	7578175	7578175	+	Splice_Site	SNP	A	A	T			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr17:7578175A>T	ENST00000420246.2	-	6	805		c.e6+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Intron	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.?(27)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		TGCAAACCAGACCTCAGGCGG	0.532000		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)			38	54					0	0	0.796494	0	0
ZHX3	23051	broad.mit.edu	37	20	39832386	39832386	+	Silent	SNP	G	G	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr20:39832386G>A	ENST00000309060.3	-	4	1586	c.1171C>T	c.(1171-1173)Cta>Tta	p.L391L	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Silent_p.L391L|ZHX3_ENST00000544979.2_Silent_p.L391L|ZHX3_ENST00000540170.1_Silent_p.L391L|ZHX3_ENST00000560361.1_Silent_p.L391L|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Silent_p.L391L			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	391	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGGTATTTAGAACCGTAATT	0.567000													13	121					0	0	0.411799	0	0
NRAP	4892	broad.mit.edu	37	10	115364589	115364589	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr10:115364589G>A	ENST00000369358.4	-	35	4274	c.4030C>T	c.(4030-4032)Cgc>Tgc	p.R1344C	NRAP_ENST00000359988.3_Missense_Mutation_p.R1336C|NRAP_ENST00000369360.3_Missense_Mutation_p.R1309C|NRAP_ENST00000360478.3_Missense_Mutation_p.R1301C			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1336						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGGCCCATGCGCCGGCAGTGC	0.592000													6	107					0	0	0.361761	0	0
DICER1	23405	broad.mit.edu	37	14	95592941	95592941	+	Silent	SNP	T	T	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr14:95592941T>C	ENST00000526495.1	-	9	1170	c.879A>G	c.(877-879)agA>agG	p.R293R	DICER1_ENST00000393063.1_Silent_p.R293R|DICER1_ENST00000343455.3_Silent_p.R293R|DICER1_ENST00000541352.1_Silent_p.R293R|DICER1_ENST00000527414.1_Silent_p.R293R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	293	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAGTAGAATCTCTTTCTTTTG	0.274000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				6	137					0	0	0.217242	0	0
IDH1	3417	broad.mit.edu	37	2	209113177	209113177	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr2:209113177T>G	ENST00000415913.1	-	4	711	c.330A>C	c.(328-330)gaA>gaC	p.E110D	IDH1_ENST00000345146.2_Missense_Mutation_p.E110D|IDH1_ENST00000446179.1_Missense_Mutation_p.E110D			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	110					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		AGATAATGGCTTCTCTGAAGA	0.448000			Mis		gliobastoma								4	120					0	0	0.150653	0	0
KCNF1	3754	broad.mit.edu	37	2	11053385	11053385	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr2:11053385G>A	ENST00000295082.1	+	1	1323	c.833G>A	c.(832-834)cGc>cAc	p.R278H		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	278						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CTGGGTGCCCGCATGATGGAG	0.642000													3	39					0	0	0.115264	0	0
ZHX3	23051	broad.mit.edu	37	20	39832734	39832734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr20:39832734G>A	ENST00000309060.3	-	4	1238	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Nonsense_Mutation_p.Q275*|ZHX3_ENST00000544979.2_Nonsense_Mutation_p.Q275*|ZHX3_ENST00000540170.1_Nonsense_Mutation_p.Q275*|ZHX3_ENST00000560361.1_Nonsense_Mutation_p.Q275*|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Nonsense_Mutation_p.Q275*			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	275	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGCTGCTGCTGGAGGGAGAGG	0.607000													13	121					0	0	0.411799	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107824	26107824	+	Silent	SNP	G	G	A	rs143215132	byFrequency	TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr6:26107824G>A	ENST00000338379.4	-	1	540	c.498C>T	c.(496-498)agC>agT	p.S166S		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	166					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CCTTTCTCCCGCTCCTAACAG	0.473000													14	337					0	0	0.457914	0	0
ZNF514	84874	broad.mit.edu	37	2	95815929	95815929	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr2:95815929C>T	ENST00000295208.2	-	5	763	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	ZNF514_ENST00000411425.1_Missense_Mutation_p.E101K	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						ATGTGTTTTTCCACTGATACT	0.408000													23	364					0	0	0.681144	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													3	22					0	0	0.115264	0	0
RAB18	22931	broad.mit.edu	37	10	27826846	27826846	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr10:27826846G>A	ENST00000356940.6	+	7	589	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	RAB18_ENST00000375802.3_Missense_Mutation_p.E118K|RAB18_ENST00000535776.1_Missense_Mutation_p.E99K|RAB18_ENST00000465772.1_3'UTR	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	163					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						ATGTGCCTTTGAAGAACTTGT	0.423000													13	286					0	0	0.457914	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070211	114070211	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr3:114070211G>C	ENST00000462705.1	-	11	1316	c.495C>G	c.(493-495)caC>caG	p.H165Q	ZBTB20_ENST00000393785.2_Missense_Mutation_p.H165Q|ZBTB20_ENST00000474710.1_Missense_Mutation_p.H238Q|ZBTB20_ENST00000464560.1_Missense_Mutation_p.H165Q|ZBTB20_ENST00000357258.3_Missense_Mutation_p.H165Q|ZBTB20_ENST00000471418.1_Missense_Mutation_p.H165Q|ZBTB20_ENST00000481632.1_Missense_Mutation_p.H165Q	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	238	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTCCACGCTGTGCTGTGGGT	0.657000													9	180					0	0	0.335167	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606360	84606360	+	Silent	SNP	G	G	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr9:84606360G>A	ENST00000344803.2	+	4	1022	c.975G>A	c.(973-975)ccG>ccA	p.P325P		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AGACTTTTCCGGAAATGTTAT	0.483000													14	446					0	0	0.435327	0	0
CIB4	130106	broad.mit.edu	37	2	26806764	26806764	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr2:26806764A>C	ENST00000288861.4	-	5	384	c.331T>G	c.(331-333)Ttt>Gtt	p.F111V	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	111	EF-hand 2.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCATTAAAATCTGCAAAG	0.542000													13	78					0	0	0.500413	0	0
DNAH2	146754	broad.mit.edu	37	17	7680805	7680805	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr17:7680805C>G	ENST00000572933.1	+	33	6560	c.5100C>G	c.(5098-5100)aaC>aaG	p.N1700K	DNAH2_ENST00000389173.2_Missense_Mutation_p.N1700K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1700	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.N1700K(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAGGGGGAACTTGACCAAGA	0.493000													20	827					0	0	0.592651	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010458	70010458	+	Missense_Mutation	SNP	G	G	A	rs3206834	by1000genomes	TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr16:70010458G>A	ENST00000532298.1	-	7	819	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F	PDXDC2P_ENST00000531894.1_RNA																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						GAGGGTGGAAGGGGAATAAGA	0.512000													3	23					0	0	0.150653	0	0
PEG3	5178	broad.mit.edu	37	19	57335821	57335821	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr19:57335821C>T	ENST00000326441.9	-	4	566	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	PEG3_ENST00000594706.1_Intron|PEG3_ENST00000598410.1_Intron|PEG3_ENST00000593695.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R68Q|ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	68	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCAGAGGTTTCGGAGTTTGAT	0.502000													4	150					0	0	0.150653	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433228	73433228	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr3:73433228T>C	ENST00000263666.4	-	10	2603	c.2489A>G	c.(2488-2490)gAc>gGc	p.D830G	PDZRN3_ENST00000479530.1_Missense_Mutation_p.D547G|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D487G|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D487G|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D552G	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	830							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGGTTGGGGTCCAGCTCCTT	0.647000													8	49					0	0	0.335167	0	0
TSC1	7248	broad.mit.edu	37	9	135798791	135798791	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr9:135798791A>T	ENST00000298552.3	-	6	673	c.452T>A	c.(451-453)cTt>cAt	p.L151H	TSC1_ENST00000403810.1_Missense_Mutation_p.L151H|TSC1_ENST00000440111.2_Missense_Mutation_p.L151H|TSC1_ENST00000545250.1_Missense_Mutation_p.L100H|TSC1_ENST00000475903.1_5'UTR	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	151					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GAAATCAAGAAGATGCTGTTT	0.473000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				5	83					0	0	0.184627	0	0
GRIA2	2891	broad.mit.edu	37	4	158281079	158281079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr4:158281079G>A	ENST00000296526.7	+	13	2400	c.2075G>A	c.(2074-2076)tGg>tAg	p.W692*	GRIA2_ENST00000449365.1_Nonsense_Mutation_p.W645*|GRIA2_ENST00000264426.9_Nonsense_Mutation_p.W692*|GRIA2_ENST00000507898.1_Nonsense_Mutation_p.W645*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.W645*	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	692					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.W692*(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GATAAAATGTGGACCTACATG	0.458000													11	45					0	0	0.435327	0	0
RAB18	22931	broad.mit.edu	37	10	27826943	27826943	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr10:27826943G>A	ENST00000356940.6	+	7	686	c.584G>A	c.(583-585)gGa>gAa	p.G195E	RAB18_ENST00000375802.3_Missense_Mutation_p.G150E|RAB18_ENST00000535776.1_Missense_Mutation_p.G131E|RAB18_ENST00000465772.1_3'UTR	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	195					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						GAAGGCCAAGGAGGAGGAGCC	0.413000													12	555					0	0	0.457914	0	0
SPG20	23111	broad.mit.edu	37	13	36903546	36903546	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr13:36903546C>G	ENST00000451493.1	-	4	1334	c.1117G>C	c.(1117-1119)Gac>Cac	p.D373H	SPG20_ENST00000494062.2_Missense_Mutation_p.D373H|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.D373H|SPG20_ENST00000438666.2_Missense_Mutation_p.D373H	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	373					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGCCTTGGTCCAACTGTTTC	0.408000													14	601					0	0	0.479597	0	0
RDH16	8608	broad.mit.edu	37	12	57351068	57351068	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr12:57351068C>A	ENST00000398138.3	-	1	1035	c.179G>T	c.(178-180)tGt>tTt	p.C60F	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	60					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CTCCGTCAGACATGCAGCCAG	0.587000													4	51					0.150653	0.155675	0.150653	1	0
ACER2	340485	broad.mit.edu	37	9	19424829	19424829	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr9:19424829C>T	ENST00000340967.2	+	3	381	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	ACER2_ENST00000380376.1_Missense_Mutation_p.R70W	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	119					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						AAAGATCTTTCGGAATGACCG	0.403000													13	195					0	0	0.411799	0	0
ARMC4	55130	broad.mit.edu	37	10	28284106	28284106	+	Translation_Start_Site	SNP	C	C	T			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr10:28284106C>T	ENST00000305242.5	-	0	58					NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4								binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCTTAGCACACGCACTACATC	0.498000													4	58					0	0	0.150653	0	0
C20orf26	26074	broad.mit.edu	37	20	20232314	20232314	+	Silent	SNP	C	C	T	rs139746792		TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr20:20232314C>T	ENST00000245957.5	+	20	2311	c.2235C>T	c.(2233-2235)acC>acT	p.T745T	C20orf26_ENST00000389656.3_Silent_p.T101T|C20orf26_ENST00000377293.1_Silent_p.T101T|C20orf26_ENST00000377309.2_Silent_p.T101T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	745								p.T745T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GTAGAATGACCGGCATAGACC	0.527000													13	230					0	0	0.457914	0	0
FAM47A	158724	broad.mit.edu	37	X	34149571	34149571	+	Silent	SNP	G	G	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chrX:34149571G>A	ENST00000346193.3	-	1	876	c.825C>T	c.(823-825)gaC>gaT	p.D275D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	275								p.D275D(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGCCCGTGCGTCTTCCAGCT	0.577000													15	40					0	0	0.500413	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													3	29					0	0	0.150653	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													3	62					0	0	0.150653	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961677	51961677	+	Translation_Start_Site	SNP	G	G	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr19:51961677G>A	ENST00000321424.3	-	0	31				SIGLEC8_ENST00000340550.5_De_novo_Start_OutOfFrame|SIGLEC8_ENST00000430817.1_De_novo_Start_OutOfFrame	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8						cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCAGGGAACGTCTGTTCCTC	0.592000													7	28					0	0	0.307466	0	0
PIM2	11040	broad.mit.edu	37	X	48772395	48772395	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chrX:48772395T>A	ENST00000376509.4	-	4	686	c.497A>T	c.(496-498)gAt>gTt	p.D166V		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	166	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						GATGTTCTCATCCTTGATGTC	0.537000													26	39					0	0	0.667858	0	0
GLRB	2743	broad.mit.edu	37	4	158060051	158060051	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr4:158060051A>G	ENST00000264428.4	+	7	971	c.701A>G	c.(700-702)aAa>aGa	p.K234R	GLRB_ENST00000509282.1_Missense_Mutation_p.K234R|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.K234R	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	234					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTGATATCAAAAAGGAAGAT	0.303000													5	36					0	0	0.217242	0	0
NR0B1	190	broad.mit.edu	37	X	30322723	30322723	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chrX:30322723C>A	ENST00000378970.4	-	2	1620	c.1386G>T	c.(1384-1386)atG>atT	p.M462I		NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	462	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCATTTCCAGCATCATATCAT	0.443000													9	141					1.58986e-06	1.69951e-06	0.361761	1	0
SMARCA2	6595	broad.mit.edu	37	9	2056743	2056743	+	Silent	SNP	C	C	T			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr9:2056743C>T	ENST00000382203.1	+	7	1454	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y	SMARCA2_ENST00000382194.1_Silent_p.Y415Y|SMARCA2_ENST00000357248.2_Silent_p.Y415Y|SMARCA2_ENST00000349721.2_Silent_p.Y415Y			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	415					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCAAAGCATACAAACGGAGCA	0.562000													12	53					0	0	0.387290	0	0
RAB18	22931	broad.mit.edu	37	10	27826858	27826858	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr10:27826858G>A	ENST00000356940.6	+	7	601	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	RAB18_ENST00000375802.3_Missense_Mutation_p.E122K|RAB18_ENST00000535776.1_Missense_Mutation_p.E103K|RAB18_ENST00000465772.1_3'UTR	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	167					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						AGAACTTGTTGAAAAGATCAT	0.448000													15	333					0	0	0.500413	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612509	16612509	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr17:16612509T>A	ENST00000443444.2	+	5	1278	c.1138T>A	c.(1138-1140)Tac>Aac	p.Y380N	CCDC144A_ENST00000399273.1_Missense_Mutation_p.Y380N|CCDC144A_ENST00000340621.5_Missense_Mutation_p.Y379N|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000360524.8_Missense_Mutation_p.Y380N|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.Y380N			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	380																	CTATCATCCATACTCTGGGTC	0.378000													25	100					0	0	0.693898	0	0
PDGFRB	5159	broad.mit.edu	37	5	149513224	149513224	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr5:149513224C>T	ENST00000261799.4	-	6	1328	c.859G>A	c.(859-861)Ggg>Agg	p.G287R		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	287	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGTAGGTCCCCGAGTCTTCT	0.562000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								6	273					0	0	0.217242	0	0
ALPL	249	broad.mit.edu	37	1	21902393	21902394	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr1:21902393_21902394insC	ENST00000374840.3	+	10	1415_1416	c.1165_1166insC	c.(1165-1167)cccfs	p.P389fs	ALPL_ENST00000539907.1_Frame_Shift_Ins_p.P312fs|ALPL_ENST00000374829.1_Frame_Shift_Ins_p.P35fs|ALPL_ENST00000425315.2_Frame_Shift_Ins_p.P389fs|ALPL_ENST00000374832.1_Frame_Shift_Ins_p.P389fs|ALPL_ENST00000540617.1_Frame_Shift_Ins_p.P334fs|ALPL_ENST00000374830.1_Frame_Shift_Ins_p.P35fs	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	389					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	TGGTGGATACACCCCCCGTGGC	0.614													8	237	---	---	---	---					
MYSM1	114803	broad.mit.edu	37	1	59133518	59133519	+	Splice_Site	DEL	CT	CT	-			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr1:59133518_59133519delCT	ENST00000472487.1	-	15	1881_1882	c.1842_splice	c.e15+1	p.EV614_splice	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	614	MPN.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					AGAGAACTTACTTCAACTACTT	0.287													13	134	---	---	---	---					
DENND2D	79961	broad.mit.edu	37	1	111742337	111742338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr1:111742337_111742338insC	ENST00000357640.4	-	2	379_380	c.150_151insG	c.(148-153)ggagcafs	p.A51fs	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Frame_Shift_Ins_p.A48fs	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	51										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		AAGAAGTGCTGCCCCCCAGCAA	0.485													8	449	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584150	145584151	+	Frame_Shift_Ins	INS	-	-	G	rs34574009		TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr1:145584150_145584151insG	ENST00000393045.2	+	11	1391_1392	c.1301_1302insG	c.(1300-1302)cggfs	p.R434fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.R399fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	434					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCCCAGTCCAGGGGGGAGATC	0.495													14	806	---	---	---	---					
TMEM79	84283	broad.mit.edu	37	1	156255497	156255498	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr1:156255497_156255498insC	ENST00000405535.2	+	2	651_652	c.480_481insC	c.(478-483)atccccfs	p.IP160fs	TMEM79_ENST00000295694.5_Frame_Shift_Ins_p.IP160fs|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	160						integral to membrane		p.R163fs*17(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GAACCTTCATGCCCCCCCGGGT	0.658													7	63	---	---	---	---					
COPA	1314	broad.mit.edu	37	1	160268683	160268689	+	Frame_Shift_Del	DEL	CTTGACA	CTTGACA	-			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr1:160268683_160268689delCTTGACA	ENST00000241704.7	-	19	2152_2158	c.1923_1929delTGTCAAG	c.(1921-1929)ttfs	p.FVK641fs	COPA_ENST00000368069.3_Frame_Shift_Del_p.FVK650fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	641					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTTCTCATCCTTGACAAAATGCAGTG	0.449													34	218	---	---	---	---					
NRBP1	29959	broad.mit.edu	37	2	27658017	27658018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr2:27658017_27658018insC	ENST00000233557.3	+	8	1416_1417	c.584_585insC	c.(583-585)gccfs	p.A195fs	NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	195	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACTCCTGTGACCCCCCCATCA	0.589													8	130	---	---	---	---					
SNRNP48	154007	broad.mit.edu	37	6	7606363	7606363	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr6:7606363delC	ENST00000342415.5	+	8	965	c.906delC	c.(904-906)agfs	p.S302fs		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	302	Arg-rich.				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGAGTAGAAGCCCACATAAAA	0.433													8	258	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													8	338	---	---	---	---					
TESK1	7016	broad.mit.edu	37	9	35608959	35608960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr9:35608959_35608960insC	ENST00000336395.5	+	10	1351_1352	c.1101_1102insC	c.(1099-1104)tcccccfs	p.SP367fs	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	367					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCAGAATCACCCCCCAACTG	0.609													8	307	---	---	---	---					
SPATA31D1	389763	broad.mit.edu	37	9	84605970	84605971	+	Frame_Shift_Ins	INS	-	-	C	rs111857392	by1000genomes	TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr9:84605970_84605971insC	ENST00000344803.2	+	4	632_633	c.585_586insC	c.(583-588)ccccccfs	p.PP195fs		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCTCTCCACCACCCCCCTTAAT	0.564													9	423	---	---	---	---					
PDCD11	22984	broad.mit.edu	37	10	105176292	105176293	+	Frame_Shift_Ins	INS	-	-	A			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr10:105176292_105176293insA	ENST00000369797.3	+	13	1657_1658	c.1563_1564insA	c.(1561-1566)ctaaaafs	p.LK521fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	521	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGATGACCCTGAAAAAAACCCT	0.485											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	250	---	---	---	---					
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.550													8	475	---	---	---	---					
RP11-686F15.2	0	broad.mit.edu	37	12	54149092	54149093	+	RNA	INS	-	-	GT	rs35346703		TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr12:54149092_54149093insGT	ENST00000566418.1	+	0	152																											TCCTGTTTGGGgtgtgtgtgtg	0.455													2	4	---	---	---	---					
COL4A2	1284	broad.mit.edu	37	13	111156323	111156324	+	Frame_Shift_Ins	INS	-	-	C	rs34603892		TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr13:111156323_111156324insC	ENST00000360467.5	+	44	4574_4575	c.4268_4269insC	c.(4267-4269)gccfs	p.A1423fs	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1423	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G1426fs*30(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGCCCCAGGGCCCCCCCGGAG	0.703													8	55	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)ggtfs	p.G447fs	ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719).		apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAATGAGGACAGCGGGGGCTGG	0.500													7	232	---	---	---	---					
ATXN2L	11273	broad.mit.edu	37	16	28844621	28844622	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr16:28844621_28844622insC	ENST00000336783.4	+	14	2068_2069	c.1901_1902insC	c.(1900-1902)accfs	p.T634fs	ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.T634fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.T634fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.T634fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.T634fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.T634fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.T640fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	634						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CAAACTGGCAGCCCCCCGGTGG	0.629													7	202	---	---	---	---					
SETD1A	9739	broad.mit.edu	37	16	30976302	30976303	+	Frame_Shift_Ins	INS	-	-	C	rs151298063		TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr16:30976302_30976303insC	ENST00000262519.8	+	7	1925_1926	c.1239_1240insC	c.(1237-1242)ctccccfs	p.LP413fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	413	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCTCCTACCTGCCCCCCGAGCC	0.678													7	263	---	---	---	---					
BCL6B	255877	broad.mit.edu	37	17	6927857	6927858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr17:6927857_6927858insC	ENST00000293805.5	+	4	631_632	c.539_540insC	c.(538-540)gccfs	p.A180fs	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	180	Pro-rich.					nucleus	zinc ion binding	p.S183fs*6(1)		skin(1)	1						TGCAGTCAAGGCCCCCCCAGTC	0.619													12	229	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7796808	7796809	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr17:7796808_7796809insC	ENST00000380358.4	+	5	892_893	c.891_892insC	c.(889-894)ggccccfs	p.GP297fs	CHD3_ENST00000330494.7_Frame_Shift_Ins_p.GP238fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.GP238fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	238					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACCCTCCGGACCCCCCGCCCT	0.639													7	242	---	---	---	---					
SCN4A	6329	broad.mit.edu	37	17	62049212	62049213	+	Splice_Site	INS	-	-	G			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr17:62049212_62049213insG	ENST00000435607.1	-	4	559		c.e4-2		SCN4A_ENST00000578147.1_Splice_Site	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AAGGTGTACCTGGGGGGGAGAG	0.589													7	88	---	---	---	---					
HIF3A	64344	broad.mit.edu	37	19	46811550	46811551	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr19:46811550_46811551insC	ENST00000339613.2	+	4	523_524	c.268_269insC	c.(268-270)cccfs	p.P90fs	HIF3A_ENST00000420102.2_Frame_Shift_Ins_p.P95fs|HIF3A_ENST00000244303.6_Frame_Shift_Ins_p.P77fs|HIF3A_ENST00000377670.4_Frame_Shift_Ins_p.P146fs|HIF3A_ENST00000472815.1_Frame_Shift_Ins_p.P77fs|HIF3A_ENST00000300862.3_Frame_Shift_Ins_p.P144fs|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000600383.1_Frame_Shift_Ins_p.P77fs			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	146	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGACGCCCTGACCCCCCAGCAG	0.604													9	325	---	---	---	---					
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z047-01A-01W-0747-08	TCGA-17-Z047-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c04cfa8-6e99-46fa-82ad-36fb96e5ffef	4e7c774d-e762-41a3-8d6a-b47c84575f0f	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)tccfs	p.S995fs	SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559													8	78	---	---	---	---					
