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
OR6B2	389090	broad.mit.edu	37	2	240969740	240969740	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:240969740A>T	ENST00000402971.2	-	1	166	c.107T>A	c.(106-108)cTc>cAc	p.L36H		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CAGGACAAAGAGGTAGGTGAG	0.587000													35	112					0	0	1	0	0
LMO4	8543	broad.mit.edu	37	1	87797826	87797826	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:87797826G>C	ENST00000370544.5	+	2	908	c.128G>C	c.(127-129)tGg>tCg	p.W43S	LMO4_ENST00000370542.1_Missense_Mutation_p.W43S|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	43	LIM zinc-binding 1.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GACAGCTATTGGCACAGCCGG	0.632000													22	47					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33944969	33944969	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:33944969G>A	ENST00000389232.4	+	32	4263	c.4193G>A	c.(4192-4194)aGt>aAt	p.S1398N	RYR3_ENST00000415757.3_Missense_Mutation_p.S1398N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1398	4 X approximate repeats.|B30.2/SPRY 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)		ATTGTAGCCAGTTCCCAGAGA	0.532000													4	45					0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984280	41984280	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:41984280G>A	ENST00000333141.5	+	1	568	c.471G>A	c.(469-471)gtG>gtA	p.V157V		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	157										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCTGTGCAGTGCTGCTCCCAG	0.572000													60	69					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													3	40					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11064040	11064040	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:11064040G>A	ENST00000287766.4	+	7	1021	c.600G>A	c.(598-600)atG>atA	p.M200I	SLC6A1_ENST00000536032.1_Missense_Mutation_p.M22I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	200					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TGCATCAGATGACGGACGGGC	0.592000													9	14					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58197936	58197936	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:58197936C>A	ENST00000282296.5	+	3	478	c.293C>A	c.(292-294)aCc>aAc	p.T98N	ZNF551_ENST00000599402.1_3'UTR|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.T82N	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AATACACCCACCCAGAAAACT	0.473000													6	204					0.00448238	0.00460151	1	1	0
ZNF236	7776	broad.mit.edu	37	18	74624207	74624207	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:74624207G>T	ENST00000253159.8	+	17	3005	c.2807G>T	c.(2806-2808)cGc>cTc	p.R936L	ZNF236_ENST00000320610.9_Missense_Mutation_p.R938L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	936					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TAGACAACTCGCTTGATTCAG	0.423000													12	16					5.50884e-06	5.89007e-06	1	1	0
KIF14	9928	broad.mit.edu	37	1	200555345	200555345	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:200555345T>C	ENST00000367350.4	-	19	3563	c.3125A>G	c.(3124-3126)gAc>gGc	p.D1042G		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1042	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GATGCTATGGTCTTCTAAAGC	0.348000													31	53					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768272	77768272	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:77768272G>T	ENST00000521891.2	+	10	9563	c.9115G>T	c.(9115-9117)Gtt>Ttt	p.V3039F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2994F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2994F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V3013F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2994						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)			GAGGGAGACCGTTGGCAGTCA	0.502000										HNSCC(33;0.089)			28	62					1.16021e-09	1.34776e-09	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196659120	196659120	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:196659120C>A	ENST00000312428.6	-	57	10758	c.10658G>T	c.(10657-10659)cGa>cTa	p.R3553L	DNAH7_ENST00000409063.1_Missense_Mutation_p.R36L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3553	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGGTATGATCGAATGATATT	0.448000													36	93					6.05902e-23	8.14016e-23	1	1	0
ERC1	23085	broad.mit.edu	37	12	1481118	1481118	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:1481118G>A	ENST00000397203.2	+	16	3306	c.2900G>A	c.(2899-2901)cGt>cAt	p.R967H	ERC1_ENST00000543086.3_Missense_Mutation_p.R939H|ERC1_ENST00000546231.2_Missense_Mutation_p.R971H|ERC1_ENST00000360905.4_Missense_Mutation_p.R967H|ERC1_ENST00000589028.1_Missense_Mutation_p.R967H|ERC1_ENST00000355446.5_Missense_Mutation_p.R967H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	967					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGAAGGATCGTCTGGTACAG	0.507000													11	24					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:7577097C>A	ENST00000420246.2	-	8	973	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.D281Y|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000445888.2_Missense_Mutation_p.D281Y|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GTGCGCCGGTCTCTCCCAGGA	0.547000		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)			21	14					4.63292e-17	5.98985e-17	1	1	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158404	26158404	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:26158404G>C	ENST00000289316.2	+	1	31	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E3Q	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	3					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TACGATGCCTGAACCTACCAA	0.507000													7	111					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92507248	92507248	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:92507248G>C	ENST00000298047.6	+	6	4254	c.4237G>C	c.(4237-4239)Ggg>Cgg	p.G1413R	FAT3_ENST00000525166.1_Missense_Mutation_p.G1263R|FAT3_ENST00000409404.2_Missense_Mutation_p.G1413R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1413	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAGGGTGTTGGGACAATTGT	0.413000										TCGA Ovarian(4;0.039)			13	67					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27099913	27099913	+	Silent	SNP	C	C	T	rs142429183		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:27099913C>T	ENST00000324856.7	+	15	4163	c.3792C>T	c.(3790-3792)gcC>gcT	p.A1264A	ARID1A_ENST00000457599.2_Silent_p.A1264A|ARID1A_ENST00000374152.2_Silent_p.A881A|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1264					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCGTGCTGCCGGCCCTGGGC	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								37	58					0	0	1	0	0
WIPF3	644150	broad.mit.edu	37	7	29915483	29915483	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:29915483C>A	ENST00000409290.1	+	2	128	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	WIPF3_ENST00000242140.5_Missense_Mutation_p.P43Q|WIPF3_ENST00000409123.1_Missense_Mutation_p.P43Q	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	43								p.P43L(1)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						AGGGCAGATCCGAAAGGCCGG	0.517000													44	43					2.43468e-25	3.29963e-25	1	1	0
NSD1	64324	broad.mit.edu	37	5	176707785	176707785	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:176707785C>A	ENST00000439151.2	+	18	5887	c.5842C>A	c.(5842-5844)Cgc>Agc	p.R1948S	NSD1_ENST00000354179.4_Missense_Mutation_p.R1679S|NSD1_ENST00000347982.4_Missense_Mutation_p.R1679S|NSD1_ENST00000361032.4_Missense_Mutation_p.R1845S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1948	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGAAATTTTCCGCACATTACA	0.463000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			12	61					6.40141e-05	6.79737e-05	1	1	0
DYSF	8291	broad.mit.edu	37	2	71762412	71762412	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:71762412C>T	ENST00000258104.3	+	15	1645	c.1368C>T	c.(1366-1368)tgC>tgT	p.C456C	DYSF_ENST00000410020.3_Silent_p.C488C|DYSF_ENST00000413539.2_Silent_p.C487C|DYSF_ENST00000409582.3_Silent_p.C487C|DYSF_ENST00000410041.1_Silent_p.C488C|DYSF_ENST00000409366.1_Silent_p.C457C|DYSF_ENST00000409744.1_Silent_p.C457C|DYSF_ENST00000394120.2_Silent_p.C457C|DYSF_ENST00000429174.2_Silent_p.C456C|DYSF_ENST00000409651.1_Silent_p.C488C|DYSF_ENST00000409762.1_Silent_p.C487C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	456	C2 3.		C -> W (in MMD1).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCCATGTGCGAAAAAATGA	0.522000													35	101					0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112304936	112304936	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:112304936A>T	ENST00000369702.4	+	8	1701	c.1081A>T	c.(1081-1083)Aga>Tga	p.R361*	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	361	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTCATTGCAGAGTCCTCAT	0.353000													29	74					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1264610	1264610	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:1264610C>A	ENST00000447027.1	+	31	6567	c.6509C>A	c.(6508-6510)aCc>aAc	p.T2170N	MUC5B_ENST00000529681.1_Missense_Mutation_p.T2167N|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2167	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		accaccgccaccacacctgca	0.657000													6	6					0.217242	0.217948	1	1	0
PIDD	55367	broad.mit.edu	37	11	802261	802261	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:802261C>A	ENST00000347755.5	-	6	1251	c.1110G>T	c.(1108-1110)ctG>ctT	p.L370L	PIDD_ENST00000411829.2_Silent_p.L370L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	370	ZU5 1.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CATGAGGACCCAGGGGGACGA	0.706000													21	30					8.34094e-07	9.13954e-07	1	1	0
NRG3	10718	broad.mit.edu	37	10	83635834	83635834	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:83635834C>A	ENST00000404547.1	+	1	738	c.738C>A	c.(736-738)ccC>ccA	p.P246P	NRG3_ENST00000372141.2_Silent_p.P246P			P56975	NRG3_HUMAN	neuregulin 3	246	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCTGTCTCCCTTTCAGGATG	0.547000													7	22					0.000157383	0.000165978	1	1	0
TNN	63923	broad.mit.edu	37	1	175092758	175092758	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:175092758G>T	ENST00000239462.4	+	12	2986	c.2873G>T	c.(2872-2874)gGg>gTg	p.G958V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	958	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G958V(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCAGAAGGGGGCCCAGGAG	0.617000													42	63					8.05343e-35	1.14678e-34	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	116					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133098	57133098	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:57133098A>T	ENST00000328070.6	+	3	677	c.443A>T	c.(442-444)cAc>cTc	p.H148L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	148						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTGATAAAGCACCAAAGGATC	0.577000													47	31					0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48618684	48618684	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:48618684C>T	ENST00000268933.3	+	8	1923	c.1344C>T	c.(1342-1344)agC>agT	p.S448S	EPN3_ENST00000537145.1_Silent_p.S476S|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	448						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGAAGCCCAGCAGCCCTGTGG	0.652000													68	210					0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58639476	58639476	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:58639476T>C	ENST00000358781.2	-	3	356	c.46A>G	c.(46-48)Ata>Gta	p.I16V		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	16					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GTCGTGACTATGGCAAAGATG	0.567000													36	38					0	0	1	0	0
RBX1	9978	broad.mit.edu	37	22	41349589	41349589	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr22:41349589A>G	ENST00000216225.8	+	2	149	c.109A>G	c.(109-111)Att>Gtt	p.I37V	XPNPEP3_ENST00000544094.1_3'UTR	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	37					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						GGCCTGGGATATTGTGGTTGA	0.463000													42	67					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5137683	5137683	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:5137683A>G	ENST00000159111.4	+	17	2655	c.2437A>G	c.(2437-2439)Agg>Ggg	p.R813G	KDM4B_ENST00000536461.1_Missense_Mutation_p.R847G	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	813					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GACCACCGATAGGAGGTGGGT	0.687000													5	7					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48145651	48145651	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:48145651G>A	ENST00000320031.8	+	4	976	c.646G>A	c.(646-648)Ggt>Agt	p.G216S	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.G216S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	216					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CGGCGCCCCCGGTGCCTACAA	0.612000													4	100					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809420	5809420	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:5809420C>A	ENST00000317078.1	-	1	626	c.627G>T	c.(625-627)ggG>ggT	p.G209G	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TATCAAAGCCCCCAATCAGCA	0.468000													19	67					2.94398e-08	3.35679e-08	1	1	0
PIWIL2	55124	broad.mit.edu	37	8	22145047	22145047	+	Silent	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:22145047T>C	ENST00000356766.6	+	7	898	c.750T>C	c.(748-750)aaT>aaC	p.N250N	PIWIL2_ENST00000454009.2_Silent_p.N250N|PIWIL2_ENST00000521356.1_Silent_p.N250N	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	250					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCAGCCCCAATGTGGAGTGCA	0.453000											OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	76					0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79588092	79588092	+	Silent	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:79588092A>T	ENST00000263849.4	+	2	189	c.87A>T	c.(85-87)gtA>gtT	p.V29V	ZC2HC1A_ENST00000521176.1_Intron	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	29																	TCTTTCCAGTAGCATTAGTGA	0.333000													35	85					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024592	55024592	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:55024592C>T	ENST00000324000.3	+	3	2785	c.751C>T	c.(751-753)Cac>Tac	p.H251Y		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	251					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ATTTTTCTTCCACACTTCAGC	0.403000													32	32					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149915899	149915899	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:149915899G>C	ENST00000369135.3	-	12	2683	c.2389C>G	c.(2389-2391)Cca>Gca	p.P797A		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	797					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTCTGAGTTGGGGGAAGGCCC	0.542000													54	123					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149744	34149744	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:34149744T>G	ENST00000346193.3	-	1	703	c.652A>C	c.(652-654)Act>Cct	p.T218P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	218	Pro-rich.									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						GACACCGGAGTCTTGGGAGGC	0.657000													36	17					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944850	55944850	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:55944850G>A	ENST00000312298.1	+	1	757	c.757G>A	c.(757-759)Ggt>Agt	p.G253S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CATATTCTATGGTACCTTAAT	0.448000													50	118					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101245762	101245762	+	Silent	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:101245762C>G	ENST00000388798.2	+	16	2303	c.2112C>G	c.(2110-2112)ctC>ctG	p.L704L	SPAG1_ENST00000251809.3_Silent_p.L704L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	704					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ATAAAGGACTCAAGGTGAGGA	0.438000													5	6					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890061	55890061	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:55890061C>A	ENST00000313472.3	+	1	213	c.213C>A	c.(211-213)gaC>gaA	p.D71E		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CATTTATTGACCTCAGTTACT	0.443000													103	359					4.55152e-58	6.69723e-58	1	1	0
IL2	3558	broad.mit.edu	37	4	123373006	123373006	+	Silent	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:123373006T>G	ENST00000226730.4	-	4	647	c.363A>C	c.(361-363)acA>acC	p.T121T		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	121					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		ACATGAATGTTGTTTCAGATC	0.333000			T	TNFRSF17	intestinal T-cell lymphoma								9	24					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	613930	613930	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr16:613930C>G	ENST00000409413.3	+	2	915	c.636C>G	c.(634-636)aaC>aaG	p.N212K		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	212	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						TGGGCGTCAACTACCCGCTCA	0.716000													3	8					0	0	1	0	0
CCNE1	898	broad.mit.edu	37	19	30314571	30314571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:30314571C>T	ENST00000262643.3	+	12	1399	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	CCNE1_ENST00000444983.2_Nonsense_Mutation_p.R359*|CCNE1_ENST00000357943.5_Nonsense_Mutation_p.R331*	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	374					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			GGACAAAGCCCGAGCAAAGAA	0.458000			A		serous ovarian								4	194					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28458989	28458989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:28458989C>A	ENST00000261609.7	-	42	6793	c.6685G>T	c.(6685-6687)Gga>Tga	p.G2229*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2229					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGCCTTCTCCAAACTCATCG	0.572000													26	26					1.2476e-16	1.59301e-16	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	RNA	SNP	C	C	T	rs2262202		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:16946437C>T	ENST00000412962.1	-	0	1082																											AGCCTTCCGCCGGGCCAGCAG	0.672000													6	15					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149503054	149503054	+	RNA	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:149503054G>T	ENST00000378016.2	+	0	8558							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATCCAGACACGTGGGCGCAGC	0.637000													28	27					4.87955e-14	5.91287e-14	1	1	0
EPB41L3	23136	broad.mit.edu	37	18	5397159	5397159	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:5397159G>T	ENST00000341928.2	-	18	3079	c.2739C>A	c.(2737-2739)gtC>gtA	p.V913V	EPB41L3_ENST00000427684.2_Silent_p.V210V|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Silent_p.V218V|EPB41L3_ENST00000342933.3_Silent_p.V913V|EPB41L3_ENST00000544123.1_Silent_p.V744V|EPB41L3_ENST00000400111.3_Silent_p.V691V|EPB41L3_ENST00000540638.2_Silent_p.V691V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	913	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTGTTCCAGGACAGCTTTAG	0.542000													40	139					7.63091e-17	9.78403e-17	1	1	0
COIL	8161	broad.mit.edu	37	17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:55038183C>G	ENST00000240316.4	-	1	232	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	66						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697000													9	8					0	0	1	0	0
YPEL2	388403	broad.mit.edu	37	17	57466719	57466719	+	Splice_Site	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:57466719A>G	ENST00000312655.4	+	4	479		c.e4-1		YPEL2_ENST00000581865.1_Splice_Site|YPEL2_ENST00000585166.1_Splice_Site	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)							nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GCCTCGACATAGAGTTAATGT	0.493000													15	43					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161281186	161281186	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:161281186G>T	ENST00000428797.2	+	4	452	c.97G>T	c.(97-99)Gat>Tat	p.D33Y	GABRA1_ENST00000023897.6_Missense_Mutation_p.D33Y|GABRA1_ENST00000437025.2_Missense_Mutation_p.D33Y|GABRA1_ENST00000444819.1_Missense_Mutation_p.D33Y|GABRA1_ENST00000393943.4_Missense_Mutation_p.D33Y|GABRA1_ENST00000420560.1_Missense_Mutation_p.D33Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	33					gamma-aminobutyric acid signaling pathway|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(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GTCATTACAAGATGAACTTAA	0.383000													9	58					0.000442599	0.000457402	1	1	0
NAALADL2	254827	broad.mit.edu	37	3	175189479	175189479	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:175189479G>A	ENST00000454872.1	+	9	1714	c.1586G>A	c.(1585-1587)aGt>aAt	p.S529N	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	529					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGCCTCCACAGTCCCATAAGG	0.358000													11	36					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849153	73849153	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:73849153C>T	ENST00000523207.1	+	3	2151	c.1563C>T	c.(1561-1563)caC>caT	p.H521H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	521					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGACTCCCACGAGCAGCTGA	0.517000													41	84					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407034	148407034	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:148407034C>A	ENST00000538184.1	-	7	1790	c.902G>T	c.(901-903)aGc>aTc	p.S301I	SH3TC2_ENST00000515425.1_Missense_Mutation_p.S754I|SH3TC2_ENST00000512049.1_Missense_Mutation_p.S747I|SH3TC2_ENST00000394358.2_Missense_Mutation_p.S639I			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	754	SH3.						binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGGGTGCTCCGGTCTGC	0.607000													19	47					5.35267e-07	5.92822e-07	1	1	0
NCOR2	9612	broad.mit.edu	37	12	124915248	124915248	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:124915248C>T	ENST00000356219.3	-	10	1123	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.R323Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.R323Q|NCOR2_ENST00000405201.1_Missense_Mutation_p.R323Q|NCOR2_ENST00000429285.2_Missense_Mutation_p.R323Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	323					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCCTTGGCCCGCCGCCGGGG	0.642000													23	171					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96256890	96256890	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:96256890T>C	ENST00000225235.4	+	5	1483	c.1373T>C	c.(1372-1374)gTa>gCa	p.V458A		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	458						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AGTGCAATGGTAATTTGGATC	0.313000													18	37					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27349299	27349299	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:27349299C>T	ENST00000376087.4	-	15	1704	c.1539G>A	c.(1537-1539)atG>atA	p.M513I	ANKRD26_ENST00000436985.2_Missense_Mutation_p.M529I	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	513						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GTACATCCTTCATTCCTCCTG	0.289000													30	83					0	0	1	0	0
SLC26A6	65010	broad.mit.edu	37	3	48670725	48670725	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:48670725A>T	ENST00000358747.6	-	2	468	c.218T>A	c.(217-219)cTg>cAg	p.L73Q	SLC26A6_ENST00000455886.2_Missense_Mutation_p.L94Q|SLC26A6_ENST00000337000.8_Missense_Mutation_p.L94Q|SLC26A6_ENST00000420764.2_Missense_Mutation_p.L94Q|SLC26A6_ENST00000395550.2_Missense_Mutation_p.L94Q|SLC26A6_ENST00000383733.3_Missense_Mutation_p.L94Q|SLC26A6_ENST00000482282.1_5'UTR	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCCGGATAACAGGTCACCCAG	0.612000													17	16					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249210841	249210841	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:249210841T>A	ENST00000539153.1	+	4	304	c.49T>A	c.(49-51)Tct>Act	p.S17T	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.S20T|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	20										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAAGGTGAAGTCTGCAAAGCT	0.493000													14	50					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99581054	99581054	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:99581054C>T	ENST00000481138.1	-	6	1912	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	ZNF782_ENST00000535338.1_Silent_p.T285T	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GTTTCTCTCCCGTGTGAGTTC	0.468000													4	131					0	0	1	0	0
LBX1	10660	broad.mit.edu	37	10	102988516	102988516	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:102988516C>T	ENST00000370193.2	-	1	1035	c.57G>A	c.(55-57)ccG>ccA	p.P19P		NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	19					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GGTGGTCCAGCGGGCTGCGCC	0.697000													16	22					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20766712	20766712	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:20766712G>T	ENST00000404938.2	+	22	3327	c.2675G>T	c.(2674-2676)aGg>aTg	p.R892M	ABCB5_ENST00000258738.6_Missense_Mutation_p.R447M	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	447					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCATTAACAAGGGAAAAAGCC	0.308000													15	71					7.93312e-07	8.72361e-07	1	1	0
LILRA3	11026	broad.mit.edu	37	19	54803700	54803700	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:54803700C>A	ENST00000391745.1	-	7	491	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	LILRA3_ENST00000391744.3_Missense_Mutation_p.G42W|LILRA3_ENST00000251390.3_Missense_Mutation_p.G42W					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGGACTCCCTTGGGTGATC	0.542000													80	48					1.91593e-42	2.75359e-42	1	1	0
ZNF816	125893	broad.mit.edu	37	19	53454527	53454527	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:53454527G>T	ENST00000357666.4	-	5	801	c.501C>A	c.(499-501)ctC>ctA	p.L167L	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.L167L|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAACATGTGGAGTTCAGGCA	0.418000													150	101					8.75221e-57	1.28172e-56	1	1	0
TRAV8-1	28685	broad.mit.edu	37	14	22265633	22265633	+	RNA	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:22265633C>A	ENST00000390430.2	+	0	175																											GATTTTTGCCCTGAGTGAGTA	0.438000													8	36					3.09899e-07	3.45699e-07	1	1	0
OR4C3	256144	broad.mit.edu	37	11	48346829	48346829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:48346829G>T	ENST00000319856.4	+	1	358	c.337G>T	c.(337-339)Gag>Tag	p.E113*		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTCATTGTATGAGGGGAGAAC	0.443000													34	324					8.18108e-13	9.79827e-13	1	1	0
C10orf90	118611	broad.mit.edu	37	10	128192872	128192872	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:128192872G>T	ENST00000284694.7	-	3	1017	c.897C>A	c.(895-897)caC>caA	p.H299Q	C10orf90_ENST00000356858.3_Missense_Mutation_p.H252Q|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.H396Q|C10orf90_ENST00000454341.1_Missense_Mutation_p.H299Q|C10orf90_ENST00000392694.1_Missense_Mutation_p.H252Q	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	299										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTGTTAATCTGTGGGAACTAC	0.537000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	154					1	1	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55433374	55433374	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:55433374G>T	ENST00000314259.3	+	1	761	c.732G>T	c.(730-732)gtG>gtT	p.V244V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACCTCACGGTGGTTGTATTGT	0.502000													38	98					9.80977e-26	1.33534e-25	1	1	0
MORC2	22880	broad.mit.edu	37	22	31324138	31324138	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr22:31324138C>G	ENST00000215862.4	-	26	4075	c.2712G>C	c.(2710-2712)caG>caC	p.Q904H	MORC2_ENST00000397641.2_Missense_Mutation_p.Q966H|MORC2-AS1_ENST00000441558.1_RNA	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	966							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CAGCACGGCTCTGGTAGGAAT	0.572000													16	50					0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32337688	32337688	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:32337688C>A	ENST00000375015.4	-	2	286	c.86G>T	c.(85-87)cGa>cTa	p.R29L	C6orf10_ENST00000447241.2_Missense_Mutation_p.R29L|C6orf10_ENST00000527965.1_Missense_Mutation_p.R29L|C6orf10_ENST00000533191.1_Missense_Mutation_p.R29L|C6orf10_ENST00000442822.2_Missense_Mutation_p.R29L|C6orf10_ENST00000375007.4_Missense_Mutation_p.R29L			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	29						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGCTTACATCGTGCCCATCT	0.418000													114	102					5.45782e-69	8.06922e-69	1	1	0
OR4K2	390431	broad.mit.edu	37	14	20344870	20344870	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:20344870C>A	ENST00000298642.2	+	1	480	c.444C>A	c.(442-444)tcC>tcA	p.S148S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTGGCTTCCTGGATTATGG	0.468000													72	312					1.74474e-33	2.47305e-33	1	1	0
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	RNA	SNP	C	C	T	rs4302302		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617000													5	41					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10404974	10404974	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:10404974C>T	ENST00000221980.4	+	8	2033	c.1970C>T	c.(1969-1971)aCa>aTa	p.T657I		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	657	Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GTGGCCAAAACAGTCGTCGTG	0.662000													83	857					0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53416550	53416550	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:53416550T>C	ENST00000371514.3	+	4	491	c.323T>C	c.(322-324)aTt>aCt	p.I108T	SCP2_ENST00000528311.1_Missense_Mutation_p.I27T|SCP2_ENST00000371513.5_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.I84T|SCP2_ENST00000371509.4_Intron	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	108					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CGCCAGCTGATTCAGGGTGGT	0.378000													42	93					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451194	110451194	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:110451194G>A	ENST00000378402.5	+	32	3933	c.3829G>A	c.(3829-3831)Gtt>Att	p.V1277I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1277	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGCGGTGTATGTTGGAGGAAA	0.338000										HNSCC(38;0.096)			17	52					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186037038	186037038	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:186037038C>T	ENST00000271588.4	+	50	8007	c.7778C>T	c.(7777-7779)aCa>aTa	p.T2593I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T2593I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2593	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACAGCCCTACATCTTTGGTC	0.403000													36	62					0	0	1	0	0
GIP	2695	broad.mit.edu	37	17	47041686	47041686	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:47041686C>A	ENST00000357424.2	-	3	343	c.243G>T	c.(241-243)aaG>aaT	p.K81N		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	81					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						TCTTCTTCCCCTTTTGGGCCA	0.557000													45	119					2.56175e-15	3.20478e-15	1	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102304896	102304896	+	RNA	SNP	C	C	G	rs145942024	by1000genomes	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:102304896C>G	ENST00000561463.1	+	0	12942																											GAAGACACTCCTGGAGGAGTC	0.562000													4	30					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111217053	111217053	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:111217053C>T	ENST00000369769.2	-	1	602	c.379G>A	c.(379-381)Gag>Aag	p.E127K		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	127						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCAGCGTCTCGGGGAACTGG	0.672000													53	107					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53419047	53419047	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr13:53419047T>A	ENST00000377942.3	-	3	3064	c.2861A>T	c.(2860-2862)gAg>gTg	p.E954V	PCDH8_ENST00000338862.4_Missense_Mutation_p.E857V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	954					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GATCTTACACTCAGCGGTGCA	0.537000													55	28					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127788488	127788488	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:127788488G>A	ENST00000243253.3	+	12	1598	c.1414G>A	c.(1414-1416)Ggg>Agg	p.G472R	SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.G478R|SEC61A1_ENST00000424880.2_Missense_Mutation_p.G352R	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	472					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGGCAGCATGGGGGCCCTGCT	0.602000													42	137					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													6	94					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225335	79225335	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:79225335C>T	ENST00000374759.3	-	14	2406	c.2023G>A	c.(2023-2025)Gtg>Atg	p.V675M	SLC38A10_ENST00000288439.5_Missense_Mutation_p.V675M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	675					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTCGCTCCACGTCCCTCTGC	0.726000													8	7					0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30511011	30511011	+	Silent	SNP	C	C	A	rs116171256	by1000genomes	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:30511011C>A	ENST00000355904.4	-	2	387	c.105G>T	c.(103-105)tcG>tcT	p.S35S		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	35	Poly-Ser.				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TCTTCTTTGACGATGATGATG	0.383000													19	96					2.39187e-15	3.00443e-15	1	1	0
GLDC	2731	broad.mit.edu	37	9	6536092	6536092	+	Missense_Mutation	SNP	C	C	T	rs151100082		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:6536092C>T	ENST00000321612.6	-	23	2960	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	937					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGGGTCGATGCGGCCCTCCTC	0.522000													3	35					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97112295	97112295	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:97112295C>G	ENST00000524981.3	+	16	2152	c.2152C>G	c.(2152-2154)Cta>Gta	p.L718V				Q6ZTY8	CL063_HUMAN		692										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TCTTAGCATGCTAAAGGTAAG	0.338000													15	42					0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90058601	90058601	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:90058601G>A	ENST00000330947.2	+	6	2771	c.2411G>A	c.(2410-2412)tGa>tAa	p.*804*	LRRC8B_ENST00000439853.1_Silent_p.*804*|LRRC8B_ENST00000358200.4_Silent_p.*804*|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	0						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GACAAATGTTGACTTAAAGAA	0.448000													26	61					0	0	1	0	0
TCTE3	6991	broad.mit.edu	37	6	170140341	170140341	+	Silent	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:170140341A>G	ENST00000366774.3	-	4	637	c.537T>C	c.(535-537)gcT>gcC	p.A179A		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	179					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		CTTCGTGTTTAGCTGCGACCC	0.413000													29	56					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522455	23522455	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:23522455G>C	ENST00000296682.3	+	7	733	c.551G>C	c.(550-552)cGa>cCa	p.R184P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TATAGCCTGCGAGAAAGAAAG	0.458000										HNSCC(3;0.000094)			55	148					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55593652	55593652	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:55593652C>T	ENST00000201647.6	+	11	1056	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Missense_Mutation_p.R316C|EPS8L1_ENST00000540810.1_Missense_Mutation_p.R270C|EPS8L1_ENST00000245618.5_Missense_Mutation_p.R207C|EPS8L1_ENST00000588359.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	334						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGCCCGGCTGCGCGGCAACAT	0.746000													3	15					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12864107	12864107	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:12864107C>G	ENST00000549706.1	+	3	510	c.186C>G	c.(184-186)ttC>ttG	p.F62L	BEST2_ENST00000553030.1_Missense_Mutation_p.F62L|BEST2_ENST00000042931.1_Missense_Mutation_p.F62L			Q8NFU1	BEST2_HUMAN	bestrophin 2	62					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						AGCGCTACTTCGAGAAGCTTG	0.557000													137	62					0	0	1	0	0
FAM114A2	10827	broad.mit.edu	37	5	153377430	153377430	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:153377430G>A	ENST00000351797.4	-	12	1338	c.1262C>T	c.(1261-1263)aCa>aTa	p.T421I	FAM114A2_ENST00000520313.1_Missense_Mutation_p.T351I|FAM114A2_ENST00000522858.1_Missense_Mutation_p.T421I|FAM114A2_ENST00000520667.1_Missense_Mutation_p.T421I	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	421							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CAACACAATTGTCATCCTAGG	0.343000													82	220					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3409312	3409312	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:3409312A>C	ENST00000356575.4	-	35	4633	c.4407T>G	c.(4405-4407)ttT>ttG	p.F1469L	MEGF6_ENST00000294599.4_Missense_Mutation_p.F1157L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1469	EGF-like 27.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGCTGGGCCCAAACTGGCCCC	0.662000													12	25					0	0	1	0	0
PPIH	10465	broad.mit.edu	37	1	43130566	43130566	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:43130566G>A	ENST00000455203.2	+	4	575	c.147G>A	c.(145-147)cgG>cgA	p.R49R	PPIH_ENST00000372550.1_Silent_p.R49R|PPIH_ENST00000304979.3_Silent_p.R92R			O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	92	PPIase cyclophilin-type.				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	GTATTTACCGGGGGCCATTTG	0.488000													11	41					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090837	34090837	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:34090837C>T	ENST00000373381.4	-	34	5490	c.5314G>A	c.(5314-5316)Gcc>Acc	p.A1772T	CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.A645T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1732	Sushi 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTGCGTGGCGCTGGTTCGA	0.632000													4	15					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029627	71029627	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:71029627C>T	ENST00000334414.6	-	2	319	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	PTPRB_ENST00000550358.1_Missense_Mutation_p.R92Q|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.R91Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCAGGTCCATCGGGGTGCCTG	0.547000													16	22					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98039334	98039334	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:98039334C>T	ENST00000370192.3	-	11	1421	c.1321G>A	c.(1321-1323)Gtt>Att	p.V441I		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	441					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCACTCAGAACTGAACCAAAG	0.418000													41	101					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113308093	113308093	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:113308093G>T	ENST00000297405.5	-	54	8827	c.8583C>A	c.(8581-8583)caC>caA	p.H2861Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.H2821Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2791Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2692Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2861	Sushi 18.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGACCAATTGTGATCCTGTT	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	14					0.0692343	0.0696853	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18331714	18331714	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:18331714G>T	ENST00000377369.2	+	13	2301	c.2028G>T	c.(2026-2028)tgG>tgT	p.W676C	SLC39A12_ENST00000377371.3_Missense_Mutation_p.W675C|SLC39A12_ENST00000377374.4_Missense_Mutation_p.W639C|SLC39A12_ENST00000539911.1_Missense_Mutation_p.W542C	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	676					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCTAGGTTGGCTTTCTCTCC	0.333000													18	33					1.02788e-11	1.21227e-11	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73205406	73205406	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:73205406C>A	ENST00000286657.4	-	5	702	c.666G>T	c.(664-666)tcG>tcT	p.S222S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	222					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.S222S(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCCAGGTCCGACTCTAATA	0.453000													57	107					4.96213e-28	6.87578e-28	1	1	0
FBN1	2200	broad.mit.edu	37	15	48905287	48905287	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:48905287G>T	ENST00000316623.5	-	3	622	c.167C>A	c.(166-168)cCc>cAc	p.P56H		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	56					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGACATTGGGTCTAAAACA	0.348000													32	40					7.11191e-15	8.7553e-15	1	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18524216	18524216	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:18524216G>T	ENST00000433979.1	+	12	1844	c.1728G>T	c.(1726-1728)gcG>gcT	p.A576A	PIK3C2G_ENST00000266497.5_Silent_p.A576A|PIK3C2G_ENST00000538779.1_Silent_p.A617A	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	576					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTTACTGGCGTGGACTTGTC	0.368000													14	34					7.93312e-07	8.72361e-07	1	1	0
SLC13A3	64849	broad.mit.edu	37	20	45239229	45239229	+	Translation_Start_Site	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:45239229C>T	ENST00000435032.1	-	0	434				SLC13A3_ENST00000495082.1_Missense_Mutation_p.V86M|SLC13A3_ENST00000339636.3_Missense_Mutation_p.V133M|SLC13A3_ENST00000472148.1_Missense_Mutation_p.V86M|SLC13A3_ENST00000290317.5_Missense_Mutation_p.V86M|SLC13A3_ENST00000372121.1_Missense_Mutation_p.V133M|SLC13A3_ENST00000279027.4_Missense_Mutation_p.V133M|SLC13A3_ENST00000413164.2_Missense_Mutation_p.V133M|SLC13A3_ENST00000396360.1_Missense_Mutation_p.V86M|SLC13A3_ENST00000417157.2_Missense_Mutation_p.V86M			Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3							integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GAGGTGGTCACCATCATCCCC	0.557000													43	88					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672720	10672720	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:10672720C>A	ENST00000302079.6	-	50	7783	c.7784G>T	c.(7783-7785)aGt>aTt	p.S2595I	PIEZO2_ENST00000285141.4_Missense_Mutation_p.S450I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.S2683I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.S2658I|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Missense_Mutation_p.S615I			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2658						integral to membrane	ion channel activity										ACTTGGGGGACTGACTTTGTC	0.453000													61	157					2.50483e-33	3.53421e-33	1	1	0
MYH1	4619	broad.mit.edu	37	17	10400464	10400464	+	Silent	SNP	G	G	C	rs61730796		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:10400464G>C	ENST00000226207.5	-	33	4672	c.4578C>G	c.(4576-4578)cgC>cgG	p.R1526R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1526						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1526R(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTCATGGATGCGCTTTCCTC	0.378000													6	45					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132228812	132228812	+	Splice_Site	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:132228812T>C	ENST00000265343.5	-	12	2687		c.e12-2		AFF4_ENST00000378595.3_Splice_Site	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4						transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTTCATTCTAGATGAAAAA	0.428000													99	175					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911936	88911936	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:88911936G>T	ENST00000263321.5	+	1	1317	c.815G>T	c.(814-816)tGg>tTg	p.W272L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	272			W -> C (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTCTCCTCTTGGCAGGTAAGA	0.458000													17	44					1.99824e-07	2.24529e-07	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196825389	196825389	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:196825389G>A	ENST00000312428.6	-	18	2586	c.2486C>T	c.(2485-2487)tCa>tTa	p.S829L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	829	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCACCTTTGATCTTACTTT	0.418000													48	129					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47408917	47408917	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:47408917C>A	ENST00000398879.1	-	17	1692	c.1326G>T	c.(1324-1326)aaG>aaT	p.K442N	TNS3_ENST00000311160.9_Missense_Mutation_p.K442N|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	442						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CAGTCATTTCCTTGAGGGAGC	0.602000													32	92					1.74807e-11	2.05381e-11	1	1	0
PLCE1	51196	broad.mit.edu	37	10	96006283	96006283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:96006283G>T	ENST00000260766.3	+	8	3635	c.3001G>T	c.(3001-3003)Gga>Tga	p.G1001*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.G1001*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.G693*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.G693*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1001					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCTCTTCAGCGGATTATTGGA	0.473000													45	87					3.54561e-26	4.8693e-26	1	1	0
ELMO1	9844	broad.mit.edu	37	7	36910057	36910057	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:36910057C>A	ENST00000310758.4	-	20	2493	c.1846G>T	c.(1846-1848)Gtg>Ttg	p.V616L	ELMO1_ENST00000396040.2_Missense_Mutation_p.V136L|ELMO1_ENST00000442504.1_Missense_Mutation_p.V616L|ELMO1_ENST00000396045.3_Missense_Mutation_p.V136L|ELMO1_ENST00000341056.3_Missense_Mutation_p.V318L|ELMO1_ENST00000448602.1_Missense_Mutation_p.V616L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	616	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCCGTCACCACGGCTTTGATA	0.398000													39	56					7.63091e-17	9.78403e-17	1	1	0
OTOL1	131149	broad.mit.edu	37	3	161214758	161214758	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:161214758G>T	ENST00000327928.4	+	1	163	c.163G>T	c.(163-165)Gaa>Taa	p.E55*		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	55						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCCAGAAGAAGAAGAAACCCT	0.468000													12	129					0.000978159	0.0010075	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140356757	140356757	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:140356757C>T	ENST00000406427.1	-	31	3855	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	PNPLA7_ENST00000371457.1_Silent_p.T754T|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.T1148T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1148					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGGCCAGGCGCGTCTGAATCT	0.667000													34	77					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112050058	112050058	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:112050058G>A	ENST00000357685.5	+	2	281	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	BCO2_ENST00000531169.1_Missense_Mutation_p.R15Q|BCO2_ENST00000393032.2_Missense_Mutation_p.R15Q|BCO2_ENST00000361053.4_Missense_Mutation_p.R49Q|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000526088.1_Missense_Mutation_p.R15Q|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000438022.1_Missense_Mutation_p.R15Q			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	49					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GGGCAGTGTCGGGGTCTGCCA	0.488000													5	95					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8140698	8140698	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:8140698C>T	ENST00000315684.8	-	5	794	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	263					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTCACCTGCACGATGATGGAC	0.488000													21	38					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55895399	55895399	+	Silent	SNP	G	G	A	rs145972420		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr16:55895399G>A	ENST00000521992.1	-	8	1072	c.927C>T	c.(925-927)aaC>aaT	p.N309N	CES5A_ENST00000518005.1_Silent_p.N174N|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Silent_p.N250N|CES5A_ENST00000319165.9_Silent_p.N280N|CES5A_ENST00000290567.9_Silent_p.N280N	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	280						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGACGCATTGTTACCACAGA	0.502000													11	39					0	0	1	0	0
NME7	29922	broad.mit.edu	37	1	169279307	169279307	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:169279307A>T	ENST00000367811.3	-	4	546	c.290T>A	c.(289-291)cTa>cAa	p.L97Q	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.L61Q	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	97					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TGGTTTAATTAGGGCTAGCGT	0.299000													16	36					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249505	140249505	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:140249505G>A	ENST00000398640.2	+	1	817	c.817G>A	c.(817-819)Gtc>Atc	p.V273I	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGAAGGAGTCAATGGAGA	0.393000													8	18					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45843586	45843586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr21:45843586G>T	ENST00000397928.1	+	23	3965	c.3520G>T	c.(3520-3522)Gag>Tag	p.E1174*	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.E1154*|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.E1224*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.E1174*	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1174						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						GGGCTCCATGGAGCAGAGGTT	0.657000													12	19					0.0135373	0.0138054	1	1	0
SCAND3	114821	broad.mit.edu	37	6	28554376	28554376	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:28554376A>T	ENST00000452236.2	-	1	736	c.119T>A	c.(118-120)cTa>cAa	p.L40Q	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	40					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATTCCTACGTAGGGCTGATTC	0.517000													14	95					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													3	73					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805145	44805145	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:44805145T>C	ENST00000309315.4	+	16	2332	c.2209T>C	c.(2209-2211)Tca>Cca	p.S737P	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S705P|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S737P|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S679P|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S711P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	737	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCAGCCCCCCTCAGTCCCTGC	0.682000													5	14					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740602	62740602	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:62740602G>A	ENST00000371153.4	-	3	552	c.174C>T	c.(172-174)caC>caT	p.H58H	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	58										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGGCCCTTCTGTGGATAGGAA	0.522000													75	144					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756990	56756990	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:56756990T>C	ENST00000326855.2	+	1	644	c.602T>C	c.(601-603)gTc>gCc	p.V201A		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CTACTTGTTGTCTTTGTGGGA	0.418000													59	145					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47700472	47700472	+	Silent	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr21:47700472A>G	ENST00000397708.1	-	4	1715	c.1461T>C	c.(1459-1461)gcT>gcC	p.A487A	MCM3AP_ENST00000291688.1_Silent_p.A487A			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	487					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCTTCTTTCTAGCCAGGGCTG	0.378000													25	44					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231101947	231101947	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:231101947G>A	ENST00000392045.3	+	2	323	c.209G>A	c.(208-210)cGc>cAc	p.R70H	SP140_ENST00000420434.3_Missense_Mutation_p.R70H|SP140_ENST00000343805.6_Missense_Mutation_p.R70H|SP140_ENST00000417495.3_Missense_Mutation_p.R70H|SP140_ENST00000350136.5_Missense_Mutation_p.R50H|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000373645.3_Missense_Mutation_p.R70H|SP140_ENST00000486687.2_Missense_Mutation_p.R70H	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	70	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTCCGAGACCGCTCCTTCATC	0.433000													26	56					0	0	1	0	0
TGS1	96764	broad.mit.edu	37	8	56699252	56699252	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:56699252G>A	ENST00000260129.5	+	4	1272	c.795G>A	c.(793-795)tcG>tcA	p.S265S		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	265					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	p.S265S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TTGATGCCTCGCAAAGCTGTG	0.363000													4	166					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45246018	45246018	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:45246018C>T	ENST00000263765.4	+	8	1344	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000530656.1_Silent_p.I365I|PRDM11_ENST00000424263.2_Silent_p.I331I			Q9NQV5	PRD11_HUMAN	PR domain containing 11	365										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CACTGGTCATCAGGAAAGTCC	0.527000													81	158					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139277993	139277993	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:139277993T>G	ENST00000395297.1	-	4	420	c.250A>C	c.(250-252)Aat>Cat	p.N84H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	84										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACAGCATCATTTATGGGTACC	0.493000										HNSCC(54;0.14)			19	51					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155311735	155311735	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:155311735C>A	ENST00000368346.3	-	25	9106	c.8467G>T	c.(8467-8469)Gat>Tat	p.D2823Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2818Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2823					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACCGAGAAATCTTTTTTGGGA	0.448000													37	101					9.62906e-15	1.18071e-14	1	1	0
CNTN1	1272	broad.mit.edu	37	12	41323676	41323676	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:41323676C>A	ENST00000551295.2	+	7	692	c.575C>A	c.(574-576)aCa>aAa	p.T192K	CNTN1_ENST00000547849.1_Missense_Mutation_p.T192K|CNTN1_ENST00000347616.1_Missense_Mutation_p.T192K|CNTN1_ENST00000348761.2_Missense_Mutation_p.T181K|CNTN1_ENST00000547702.1_Missense_Mutation_p.T192K|CNTN1_ENST00000360099.3_Missense_Mutation_p.T192K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	192	Ig-like C2-type 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTGTCTCAGACAAATGGCAAT	0.388000													40	74					3.21399e-22	4.28071e-22	1	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12835781	12835781	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:12835781G>T	ENST00000357726.4	+	2	410	c.383G>T	c.(382-384)aGt>aTt	p.S128I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	128										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCCTGAGTAAGAGACGA	0.547000													78	194					5.61366e-43	8.1057e-43	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24924320	24924320	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:24924320G>T	ENST00000329468.2	+	1	3780	c.3306G>T	c.(3304-3306)atG>atT	p.M1102I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCAGTGGTATGGGAGGGGATG	0.493000													5	119					0.014758	0.0150007	1	1	0
OR51G2	81282	broad.mit.edu	37	11	4936656	4936656	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:4936656G>C	ENST00000322013.3	-	1	266	c.238C>G	c.(238-240)Ctt>Gtt	p.L80V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGTGCAAAGGGAGAGACCC	0.463000													18	47					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11022898	11022898	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:11022898G>T	ENST00000304623.8	-	17	3171	c.2982C>A	c.(2980-2982)tcC>tcA	p.S994S	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.S936S|CTNND2_ENST00000511377.1_Silent_p.S903S|CTNND2_ENST00000458100.2_Silent_p.S561S|CTNND2_ENST00000503622.1_Silent_p.S657S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	994					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTTTGCTTTTGGAGATGCCGA	0.498000													18	56					9.16793e-09	1.05312e-08	1	1	0
NHLRC1	378884	broad.mit.edu	37	6	18122404	18122404	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:18122404T>C	ENST00000340650.3	-	1	447	c.434A>G	c.(433-435)cAc>cGc	p.H145R		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	145					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCTGCCGTCGTGCACCACCAC	0.637000													15	87					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56399671	56399671	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:56399671G>T	ENST00000355701.3	-	10	2290	c.1420C>A	c.(1420-1422)Cag>Aag	p.Q474K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.Q414K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.Q474K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	474						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGCCCCACCTGCTGCAGTCTC	0.642000													27	119					2.12542e-12	2.52597e-12	1	1	0
C10orf53	282966	broad.mit.edu	37	10	50901953	50901953	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:50901953C>A	ENST00000374113.3	+	2	278	c.231C>A	c.(229-231)ggC>ggA	p.G77G	C10orf53_ENST00000374111.3_Intron|C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374112.3_Intron			Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				AGCCCTTTGGCGATGCTTCCA	0.443000													26	46					1.26454e-06	1.37586e-06	1	1	0
OR6N2	81442	broad.mit.edu	37	1	158746766	158746766	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:158746766C>A	ENST00000339258.1	-	1	659	c.660G>T	c.(658-660)agG>agT	p.R220S		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CCCCAATGATCCTTGCATAAG	0.418000													17	40					9.7654e-05	0.000103339	1	1	0
DSTN	11034	broad.mit.edu	37	20	17581473	17581473	+	Silent	SNP	A	A	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:17581473A>C	ENST00000246069.6	+	2	440	c.94A>C	c.(94-96)Aga>Cga	p.R32R	DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Silent_p.R15R	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	32	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AATCAAGAAAAGAAAGAAGGC	0.398000													28	69					0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9513224	9513224	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:9513224G>A	ENST00000019317.4	+	2	404	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	RALBP1_ENST00000383432.3_Missense_Mutation_p.V61M			Q15311	RBP1_HUMAN	ralA binding protein 1	61					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TCCTGATGTAGTGTCTGATGA	0.443000													49	36					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51202259	51202259	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:51202259A>T	ENST00000245441.5	-	28	6042	c.5852T>A	c.(5851-5853)gTa>gAa	p.V1951E	NIN_ENST00000530997.2_Missense_Mutation_p.V1951E|NIN_ENST00000324330.9_Missense_Mutation_p.V1951E|NIN_ENST00000453196.1_Missense_Mutation_p.V1951E|NIN_ENST00000389868.3_Missense_Mutation_p.V1238E|NIN_ENST00000382041.3_Missense_Mutation_p.V1951E|NIN_ENST00000382043.4_Missense_Mutation_p.V1238E	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1951					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ATCCAGTTTTACTTGTTTCTT	0.353000			T	PDGFRB	MPD								7	47					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159265	18159265	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:18159265G>C	ENST00000396275.2	+	3	877	c.516G>C	c.(514-516)tgG>tgC	p.W172C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	172				W -> R (in Ref. 2; AAL86879).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ATTCTGTTTGGTGTGAAACGT	0.502000													59	150					0	0	1	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249229	90249229	+	RNA	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:90249229C>G	ENST00000468879.1	+	0	366																											CAGCAAAAACCAGCAAAAGCC	0.498000													83	241					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176707786	176707786	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:176707786G>T	ENST00000439151.2	+	18	5888	c.5843G>T	c.(5842-5844)cGc>cTc	p.R1948L	NSD1_ENST00000354179.4_Missense_Mutation_p.R1679L|NSD1_ENST00000347982.4_Missense_Mutation_p.R1679L|NSD1_ENST00000361032.4_Missense_Mutation_p.R1845L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1948	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAAATTTTCCGCACATTACAG	0.458000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	60					7.03913e-09	8.11601e-09	1	1	0
UGT1A5	54579	broad.mit.edu	37	2	234622486	234622486	+	Silent	SNP	C	C	T	rs149208140	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:234622486C>T	ENST00000373414.3	+	1	849	c.849C>T	c.(847-849)aaC>aaT	p.N283N	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		ACTGTGCCAACGGGAAGCCAC	0.463000													4	190					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43280495	43280495	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:43280495G>T	ENST00000512796.1	+	4	2474	c.975G>T	c.(973-975)atG>atT	p.M325I	NIM1_ENST00000326035.2_Missense_Mutation_p.M325I			Q8IY84	NIM1_HUMAN		325	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										ATGAATGGATGCAAGGGGTGC	0.512000													36	93					3.66082e-28	5.09546e-28	1	1	0
ANKRD10	55608	broad.mit.edu	37	13	111532019	111532019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr13:111532019C>T	ENST00000267339.2	-	6	1362	c.1228G>A	c.(1228-1230)Gtg>Atg	p.V410M	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	410										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GTGCCCAGCACGGCACTGTCG	0.587000													21	11					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30528315	30528315	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr16:30528315C>A	ENST00000356798.6	+	26	3064	c.2884C>A	c.(2884-2886)Cac>Aac	p.H962N	ITGAL_ENST00000433423.2_Missense_Mutation_p.H196N|ITGAL_ENST00000358164.5_Missense_Mutation_p.H878N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	962					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCCTTCCATCCACGACCACAA	0.642000													47	390					1.05386e-31	1.48019e-31	1	1	0
TTC30B	150737	broad.mit.edu	37	2	178415579	178415579	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:178415579C>G	ENST00000408939.2	-	1	2163	c.1913G>C	c.(1912-1914)aGa>aCa	p.R638T		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	638					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AACATGCATTCTTTCTTCTTC	0.363000													43	102					0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19445705	19445705	+	Splice_Site	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:19445705G>A	ENST00000270570.4	+	2	221		c.e2-1		SLC47A1_ENST00000571335.1_Splice_Site|SLC47A1_ENST00000457293.1_Splice_Site|SLC47A1_ENST00000575023.1_Splice_Site|SLC47A1_ENST00000584348.1_Splice_Site|SLC47A1_ENST00000542886.1_Splice_Site|SLC47A1_ENST00000436810.2_Splice_Site|SLC47A1_ENST00000395585.1_Splice_Site	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1							integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TCTCTTCCCAGTTCTTGGTTC	0.577000													28	50					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990958	990958	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:990958G>A	ENST00000190165.2	+	2	1410	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	458					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CGACTATGACGAGAGGTCTGA	0.522000													54	54					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158587333	158587333	+	Silent	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:158587333T>G	ENST00000368148.3	-	47	6774	c.6594A>C	c.(6592-6594)gcA>gcC	p.A2198A	SPTA1_ENST00000368147.3_Silent_p.A2195A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2198					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTACTTTATTTGCTTCCAGCT	0.343000													6	33					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42298268	42298268	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:42298268G>A	ENST00000399518.3	-	4	931	c.445C>T	c.(445-447)Cat>Tat	p.H149Y	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.H120Y	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	131					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GTCAGGAGATGGTCATCTGGT	0.522000													28	34					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62202052	62202052	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:62202052T>A	ENST00000467148.1	-	2	517	c.448A>T	c.(448-450)Agt>Tgt	p.S150C	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		AGGACCTCACTGCTGCTGCGC	0.701000													8	14					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164748525	164748525	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:164748525G>T	ENST00000264382.3	-	25	2929	c.2867C>A	c.(2866-2868)aCa>aAa	p.T956K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	956	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCCACGTTGTGTGCACTTTTG	0.308000										HNSCC(35;0.089)			41	132					2.35958e-20	3.08946e-20	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113402995	113402995	+	Silent	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:113402995A>G	ENST00000297405.5	-	36	6076	c.5832T>C	c.(5830-5832)acT>acC	p.T1944T	CSMD3_ENST00000343508.3_Silent_p.T1904T|CSMD3_ENST00000352409.3_Silent_p.T1874T|CSMD3_ENST00000455883.2_Silent_p.T1840T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1944	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTGCGCTTAGTTAAAATTC	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	19					0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26959403	26959403	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr13:26959403G>T	ENST00000381527.3	+	6	1073	c.570G>T	c.(568-570)ttG>ttT	p.L190F	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	190	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TAGCAGATTTGGATCCAGTGG	0.358000													39	20					3.78316e-11	4.42801e-11	1	1	0
SCAND3	114821	broad.mit.edu	37	6	28554374	28554374	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:28554374G>T	ENST00000452236.2	-	1	738	c.121C>A	c.(121-123)Cgt>Agt	p.R41S	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	41					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAATTCCTACGTAGGGCTGAT	0.522000													14	93					0.000308642	0.000320035	1	1	0
ZBP1	81030	broad.mit.edu	37	20	56189946	56189946	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:56189946G>A	ENST00000340462.4	-	3	710	c.430C>T	c.(430-432)Cca>Tca	p.P144S	ZBP1_ENST00000343535.4_Missense_Mutation_p.P167S|ZBP1_ENST00000371173.3_Missense_Mutation_p.P167S|ZBP1_ENST00000541799.1_Missense_Mutation_p.P167S|ZBP1_ENST00000395822.3_Missense_Mutation_p.P92S			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	167						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGCCTACCTGGGCGGTAAATC	0.552000													39	77					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176707633	176707633	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:176707633G>T	ENST00000439151.2	+	18	5735	c.5690G>T	c.(5689-5691)tGt>tTt	p.C1897F	NSD1_ENST00000354179.4_Missense_Mutation_p.C1628F|NSD1_ENST00000347982.4_Missense_Mutation_p.C1628F|NSD1_ENST00000361032.4_Missense_Mutation_p.C1794F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1897	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CGTTGCAACTGTAAAGCTACT	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			40	75					1.49673e-21	1.98494e-21	1	1	0
SLC7A3	84889	broad.mit.edu	37	X	70146401	70146401	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:70146401C>T	ENST00000374299.3	-	10	1740	c.1596G>A	c.(1594-1596)caG>caA	p.Q532Q	SLC7A3_ENST00000298085.4_Silent_p.Q532Q			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	532					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAGTGGAACTCTGTGGCTGTC	0.473000													3	5					0	0	1	0	0
LDLRAD1	388633	broad.mit.edu	37	1	54483764	54483764	+	Splice_Site	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:54483764C>T	ENST00000371360.1	-	1	39		c.e1+1		LDLRAD1_ENST00000420619.1_Splice_Site|LDLRAD1_ENST00000545928.1_Splice_Site|LDLRAD1_ENST00000371362.3_Splice_Site	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1							integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						ACAGCTCTCACCTGGGGGAAG	0.577000													15	28					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249049	20249049	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:20249049G>T	ENST00000315957.4	+	1	649	c.568G>T	c.(568-570)Gcc>Tcc	p.A190S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATTGCCTGTGCCAACACCTT	0.468000													63	292					1.79293e-35	2.56489e-35	1	1	0
MYH2	4620	broad.mit.edu	37	17	10443311	10443311	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:10443311G>T	ENST00000245503.5	-	12	1465	c.1081C>A	c.(1081-1083)Cat>Aat	p.H361N	MYH2_ENST00000397183.2_Missense_Mutation_p.H361N|MYH2_ENST00000532183.1_Missense_Mutation_p.H361N|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	361	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCCCATAATGCATCACAGCC	0.413000													55	146					1.39843e-22	1.87063e-22	1	1	0
PSMD4	5710	broad.mit.edu	37	1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					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|DNA repair|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|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547000													5	176					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118790383	118790383	+	Silent	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:118790383G>C	ENST00000368491.3	-	12	2727	c.2106C>G	c.(2104-2106)tcC>tcG	p.S702S	CEP85L_ENST00000368488.5_Silent_p.S705S	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	702						centrosome											GTGGCCGTTTGGAAAGAACTG	0.408000													55	81					0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38073423	38073423	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:38073423G>A	ENST00000394175.2	-	1	370	c.147C>T	c.(145-147)tgC>tgT	p.C49C	GSDMB_ENST00000520542.1_Silent_p.C49C|GSDMB_ENST00000418519.1_Silent_p.C49C|GSDMB_ENST00000394179.1_Silent_p.C49C|GSDMB_ENST00000360317.3_Silent_p.C49C|GSDMB_ENST00000309481.7_Silent_p.C49C	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	49						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TGTAGTGCCGGCATCCAAAGA	0.507000													4	187					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25925343	25925343	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:25925343G>T	ENST00000356865.6	-	20	3902	c.3791C>A	c.(3790-3792)aCt>aAt	p.T1264N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1264					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGCTTGCATAGTCCAGTAAGG	0.532000													56	59					1.11015e-26	1.53141e-26	1	1	0
CFAP54	144535	broad.mit.edu	37	12	97084960	97084960	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:97084960T>C	ENST00000524981.3	+	11	1489	c.1489T>C	c.(1489-1491)Tat>Cat	p.Y497H				Q6ZTY8	CL063_HUMAN		471										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTATGCTCAATATGAAATCAC	0.373000													14	41					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621464	171621464	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:171621464C>A	ENST00000037502.5	-	1	347	c.288G>T	c.(286-288)gaG>gaT	p.E96D		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	96					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGAGGAGGCTCTCCAGGGAGC	0.632000													33	72					2.08457e-15	2.62911e-15	1	1	0
RGS18	64407	broad.mit.edu	37	1	192153620	192153620	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:192153620G>C	ENST00000367460.3	+	5	825	c.644G>C	c.(643-645)cGa>cCa	p.R215P		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	215					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGGAGACGATCACGCTCA	0.358000													27	59					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72699075	72699075	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:72699075T>G	ENST00000341689.3	+	3	524	c.470T>G	c.(469-471)aTg>aGg	p.M157R	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	157						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						AAGGTATCCATGCTCAGCTTC	0.438000													25	60					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19350802	19350802	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:19350802G>A	ENST00000307015.9	+	20	3736	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	DENND4C_ENST00000380432.2_Missense_Mutation_p.E1189K|DENND4C_ENST00000434457.2_Missense_Mutation_p.E1474K|DENND4C_ENST00000540671.1_Missense_Mutation_p.E519K|DENND4C_ENST00000602925.1_Missense_Mutation_p.E1425K			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1189						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGTCCCCAGTGAACTTACCCA	0.453000													5	81					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62438567	62438567	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:62438567C>T	ENST00000541428.1	-	22	1942	c.1782G>A	c.(1780-1782)ggG>ggA	p.G594G	ASPH_ENST00000379454.4_Silent_p.G623G	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	623					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGCTCCAGTCCCCTTTTTCCC	0.493000													42	67					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													4	18					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													4	108					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138633414	138633414	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:138633414C>A	ENST00000218099.2	+	6	721	c.714C>A	c.(712-714)ttC>ttA	p.F238L	F9_ENST00000394090.2_Missense_Mutation_p.F200L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	238	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CAGGTCAATTCCCTTGGCAGG	0.463000													27	16					9.04412e-07	9.87503e-07	1	1	0
SEC16A	9919	broad.mit.edu	37	9	139366549	139366549	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:139366549G>T	ENST00000313050.7	-	2	3655	c.3582C>A	c.(3580-3582)ctC>ctA	p.L1194L	SEC16A_ENST00000371706.3_Silent_p.L1016L|SEC16A_ENST00000431893.2_Silent_p.L1016L|SEC16A_ENST00000290037.6_Silent_p.L1016L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1016	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGGCTCATAGAGGCTGTAGA	0.577000													6	66					5.18039e-06	5.55813e-06	1	1	0
OR5H15	403274	broad.mit.edu	37	3	97887871	97887871	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:97887871A>T	ENST00000356526.2	+	1	328	c.328A>T	c.(328-330)Aca>Tca	p.T110S		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGGCGTAACCACAGAATGTTT	0.393000													52	116					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13617097	13617097	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:13617097C>A	ENST00000040738.5	-	3	533	c.398G>T	c.(397-399)cGa>cTa	p.R133L		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	133							DNA binding										AGAAATAATTCGGTCAATACC	0.353000													39	32					2.87052e-16	3.65017e-16	1	1	0
CRP	1401	broad.mit.edu	37	1	159683862	159683862	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:159683862G>A	ENST00000255030.5	-	2	231	c.128C>T	c.(127-129)cCg>cTg	p.P43L	CRP_ENST00000343919.2_Missense_Mutation_p.P43L|CRP_ENST00000437342.1_Intron|CRP_ENST00000368111.1_Missense_Mutation_p.P43L|CRP_ENST00000368110.1_Missense_Mutation_p.P43L|CRP_ENST00000368112.1_Missense_Mutation_p.P43L	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	43	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTTCGTTAACGGTGCTTTGAG	0.483000													41	92					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269039	123269039	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:123269039G>T	ENST00000451558.1	+	12	1512	c.991G>T	c.(991-993)Ggt>Tgt	p.G331C	ASB15_ENST00000275699.3_Missense_Mutation_p.G331C|ASB15_ENST00000540573.1_Missense_Mutation_p.G331C|ASB15_ENST00000451215.1_Missense_Mutation_p.G331C|ASB15_ENST00000434204.1_Missense_Mutation_p.G331C			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	331					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CATTGAAAATGGTTTTGATGT	0.413000													68	98					3.57465e-26	4.88746e-26	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32634582	32634582	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:32634582C>T	ENST00000242310.4	-	1	1085	c.996G>A	c.(994-996)atG>atA	p.M332I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	332					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAGGAACCATCATCGTGATTT	0.488000													4	116					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661717	113661717	+	RNA	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:113661717C>T	ENST00000393544.2	+	0	1765																											AGCCCAGAGTCCTATCTAGGG	0.542000													3	23					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160757944	160757944	+	Silent	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:160757944T>A	ENST00000274547.2	-	9	1240	c.1023A>T	c.(1021-1023)gcA>gcT	p.A341A	GABRB2_ENST00000353437.6_Silent_p.A341A|GABRB2_ENST00000520240.1_Silent_p.A341A|GABRB2_ENST00000517901.1_Silent_p.A278A|GABRB2_ENST00000517547.1_Silent_p.A181A|GABRB2_ENST00000393959.1_Silent_p.A341A	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	341					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTTCTCAGCTGCTTTCTTTT	0.502000													32	137					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22805054	22805054	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr18:22805054T>G	ENST00000361524.3	-	4	2976	c.2828A>C	c.(2827-2829)aAt>aCt	p.N943T	ZNF521_ENST00000538137.2_Missense_Mutation_p.N943T|ZNF521_ENST00000584787.1_Missense_Mutation_p.N723T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	943					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCGGAGGCCATTTTCGGAGAA	0.478000			T	PAX5	ALL								47	124					0	0	1	0	0
MKRN2	23609	broad.mit.edu	37	3	12616417	12616417	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:12616417G>C	ENST00000170447.7	+	5	906	c.769G>C	c.(769-771)Ggg>Cgg	p.G257R	MKRN2_ENST00000448482.1_Missense_Mutation_p.G255R|MKRN2_ENST00000411987.1_Missense_Mutation_p.G214R	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	257						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						GAGGAGATTTGGGATTCTCTC	0.493000													19	24					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073368	134073368	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:134073368C>A	ENST00000264360.4	+	1	2899	c.2073C>A	c.(2071-2073)agC>agA	p.S691R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	691					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ggggcgggagcggaggcggag	0.711000													13	22					1.3612e-06	1.47583e-06	1	1	0
PEX5L	51555	broad.mit.edu	37	3	179576922	179576922	+	Silent	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:179576922G>C	ENST00000467460.1	-	8	1080	c.750C>G	c.(748-750)cgC>cgG	p.R250R	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Silent_p.R142R|PEX5L_ENST00000392649.3_Silent_p.R142R|PEX5L_ENST00000465751.1_Silent_p.R226R|PEX5L_ENST00000263962.8_Silent_p.R248R|PEX5L_ENST00000468741.1_Silent_p.R58R|PEX5L_ENST00000476138.1_Silent_p.R207R|PEX5L_ENST00000485199.1_Silent_p.R215R|PEX5L_ENST00000472994.1_Silent_p.R191R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	250					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CGCTTCCCCAGCGATGTTCTT	0.358000													55	33					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													3	35					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44847418	44847418	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:44847418C>T	ENST00000536500.1	-	2	173	c.54G>A	c.(52-54)atG>atA	p.M18I	ZNF112_ENST00000354340.4_Intron|CTC-512J12.6_ENST00000588212.1_Intron|ZNF112_ENST00000337401.4_Start_Codon_SNP_p.M1I					zinc finger protein 112																		GGAATTTGGTCATTTTTCTCT	0.413000													37	41					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118623782	118623782	+	Silent	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:118623782A>G	ENST00000336338.5	-	15	2216	c.2151T>C	c.(2149-2151)aaT>aaC	p.N717N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	717						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACAGCTGTCTATTATCAGGGA	0.433000													36	94					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428837	179428837	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:179428837C>A	ENST00000589042.1	-	326	82246	c.82022G>T	c.(82021-82023)cGg>cTg	p.R27341L	TTN_ENST00000342992.6_Missense_Mutation_p.R24773L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18468L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18401L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R25700L|TTN_ENST00000460472.2_Missense_Mutation_p.R18276L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25700	Fibronectin type-III 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R24773L(1)|p.R18276L(1)|p.R24771L(1)|p.R18468L(1)|p.R18401L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCATCAGTCCGTATACAGTC	0.393000													71	159					1.25706e-45	1.82362e-45	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2823429	2823429	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:2823429C>T	ENST00000520002.1	-	60	9706	c.9151G>A	c.(9151-9153)Ggg>Agg	p.G3051R	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3051R|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3050R|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3051	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTCGGTCCCAAACTGGATG	0.448000													8	14					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712459	140712459	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:140712459C>T	ENST00000517417.1	+	1	2208	c.2208C>T	c.(2206-2208)ccC>ccT	p.P736P	PCDHGA1_ENST00000378105.3_Silent_p.P736P	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCATGCCCGGTTCGCACT	0.632000													4	138					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670267	158670267	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:158670267A>G	ENST00000359610.2	-	1	219	c.176T>C	c.(175-177)aTg>aCg	p.M59T		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAAAGTATACATGGGAGTGTG	0.448000													25	84					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73151800	73151800	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:73151800G>A	ENST00000377110.2	-	25	4436	c.4193C>T	c.(4192-4194)tCg>tTg	p.S1398L	TRPM3_ENST00000396280.5_Missense_Mutation_p.S1247L|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1260L|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1257L|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1260L|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1270L|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1402L|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1425L|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1257L|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1270L|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1257L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1423						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTCTATACACGATGATGGTCT	0.512000													48	88					0	0	1	0	0
RTFDC1	51507	broad.mit.edu	37	20	55048421	55048421	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:55048421G>A	ENST00000023939.4	+	2	241	c.134G>A	c.(133-135)aGa>aAa	p.R45K	RTFDC1_ENST00000395881.3_Missense_Mutation_p.R45K|RTFDC1_ENST00000357348.5_Missense_Mutation_p.R75K	NM_016407.3	NP_057491.2			replication termination factor 2 domain containing 1																		GAAATATTAAGACGACCAATA	0.323000													23	48					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026221	197026221	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:197026221T>A	ENST00000367412.1	-	7	1136	c.1093A>T	c.(1093-1095)Aaa>Taa	p.K365*		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	365	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAGCCGCTTTTACATGCATAT	0.408000													19	29					0	0	1	0	0
PSMC5	5705	broad.mit.edu	37	17	61907804	61907804	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:61907804C>T	ENST00000310144.6	+	6	803	c.495C>T	c.(493-495)atC>atT	p.I165I	PSMC5_ENST00000580864.1_Silent_p.I157I|PSMC5_ENST00000581882.1_Silent_p.I157I|PSMC5_ENST00000375812.4_Silent_p.I157I	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	165					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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AAGAAGTGATCGAGCTGCCTG	0.488000													27	101					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489281	65489281	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:65489281G>A	ENST00000261883.4	-	9	3509	c.3343C>T	c.(3343-3345)Ctc>Ttc	p.L1115F		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1115					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TTGAAGGTGAGGGCTACTCCC	0.607000													23	20					0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41122744	41122744	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:41122744T>C	ENST00000220772.3	-	3	1224	c.887A>G	c.(886-888)aAc>aGc	p.N296S	SFRP1_ENST00000379845.3_Missense_Mutation_p.N160S	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	296	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CTTCATGAAGTTTTTGAACTC	0.532000													7	30					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68965416	68965416	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:68965416C>A	ENST00000288368.4	+	9	1305	c.1028C>A	c.(1027-1029)gCa>gAa	p.A343E	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	343	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTGTATGGCAAAAACACCT	0.383000													31	62					3.80469e-20	4.96055e-20	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130185208	130185208	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:130185208T>C	ENST00000422113.2	-	2	441	c.115A>G	c.(115-117)Agg>Ggg	p.R39G		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	39						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAGGAAAACCTCTGGATGCTC	0.542000													17	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404190	179404190	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:179404190A>C	ENST00000589042.1	-	352	98826	c.98602T>G	c.(98602-98604)Ttc>Gtc	p.F32868V	TTN_ENST00000342992.6_Missense_Mutation_p.F30300V|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F23995V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F23928V|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F31227V|TTN_ENST00000460472.2_Missense_Mutation_p.F23803V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31227							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAACACGGAAATGGTATTCT	0.453000													44	85					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642000													4	97					0	0	1	0	0
KRBA2	124751	broad.mit.edu	37	17	8273201	8273201	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:8273201C>A	ENST00000396267.1	-	2	1315	c.484G>T	c.(484-486)Gta>Tta	p.V162L	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.V244L			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	244					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CTCTTGGGTACTGGGTTCTTC	0.458000													45	87					1.23713e-20	1.62669e-20	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38338867	38338867	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:38338867G>T	ENST00000322350.5	+	3	621	c.275G>T	c.(274-276)cGg>cTg	p.R92L	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R92L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	92	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTCTCAGCCGGGACATCCCG	0.547000													14	27					0.0202918	0.0205579	1	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142480030	142480030	+	RNA	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:142480030C>A	ENST00000603901.1	+	0	162					NR_001296.3																						CCCTCATCAGCGAACAGTGGG	0.572000													32	155					7.11191e-15	8.7553e-15	1	1	0
GABRA1	2554	broad.mit.edu	37	5	161300189	161300189	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:161300189A>C	ENST00000428797.2	+	6	677	c.322A>C	c.(322-324)Atg>Ctg	p.M108L	GABRA1_ENST00000023897.6_Missense_Mutation_p.M108L|GABRA1_ENST00000437025.2_Missense_Mutation_p.M108L|GABRA1_ENST00000444819.1_Missense_Mutation_p.M108L|GABRA1_ENST00000393943.4_Missense_Mutation_p.M108L|GABRA1_ENST00000420560.1_Missense_Mutation_p.M108L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	108					gamma-aminobutyric acid signaling pathway|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(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TAAAGGACCTATGACAGTCCT	0.383000													58	77					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97251285	97251285	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:97251285G>T	ENST00000389672.5	+	11	2322	c.2284G>T	c.(2284-2286)Ggc>Tgc	p.G762C	EPHA6_ENST00000514100.1_Missense_Mutation_p.G154C|EPHA6_ENST00000442602.2_Missense_Mutation_p.G128C|EPHA6_ENST00000502694.1_Missense_Mutation_p.G154C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	667	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTGAAAGGTGGCCACATGGA	0.428000													29	83					1.68575e-08	1.92925e-08	1	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128993380	128993380	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:128993380C>A	ENST00000310343.9	-	4	362	c.363G>T	c.(361-363)gcG>gcT	p.A121A	ARHGAP32_ENST00000524655.1_Silent_p.A47A	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	121					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AATGGAAATGCGCACATTCAG	0.328000													10	18					1.08611e-07	1.22484e-07	1	1	0
HSPA12A	259217	broad.mit.edu	37	10	118460580	118460580	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:118460580C>A	ENST00000369209.3	-	4	419	c.315G>T	c.(313-315)ctG>ctT	p.L105L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	105							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCTCGGGAGTCAGCAAGATGG	0.557000													40	87					1.22674e-20	1.61993e-20	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137647	40137647	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:40137647T>A	ENST00000278198.2	-	2	2159	c.196A>T	c.(196-198)Aac>Tac	p.N66Y	LRRC4C_ENST00000528697.1_Missense_Mutation_p.N66Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N66Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.N66Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	66	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCACGCAGGTTTTTCCGAACA	0.522000													15	40					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													6	99					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298719	125298719	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:125298719G>T	ENST00000538699.1	-	2	1269	c.1189C>A	c.(1189-1191)Ccc>Acc	p.P397T	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.P397T	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	397										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCCCTGCGGGCCCCGGCATG	0.617000													74	34					2.51111e-31	3.511e-31	1	1	0
MAP3K7	6885	broad.mit.edu	37	6	91260237	91260237	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:91260237T>C	ENST00000369329.3	-	9	1060	c.899A>G	c.(898-900)tAt>tGt	p.Y300C	MAP3K7_ENST00000369332.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369325.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369327.3_Missense_Mutation_p.Y300C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	300					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGACAAGGATACTGTAATGG	0.333000													14	19					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210543348	210543348	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:210543348C>T	ENST00000360351.4	+	5	821	c.315C>T	c.(313-315)gtC>gtT	p.V105V	MAP2_ENST00000447185.1_Silent_p.V105V|MAP2_ENST00000361559.4_Silent_p.V105V|MAP2_ENST00000199940.6_Silent_p.V105V|MAP2_ENST00000392194.1_Silent_p.V105V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	105					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGTAGCAGTCCTGAAAGGTG	0.413000													27	45					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39889794	39889794	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:39889794G>A	ENST00000564288.1	+	61	17021	c.16244G>A	c.(16243-16245)aGa>aAa	p.R5415K	MACF1_ENST00000539005.1_Missense_Mutation_p.R3332K|MACF1_ENST00000289893.4_Missense_Mutation_p.R3855K|MACF1_ENST00000317713.7_Missense_Mutation_p.R3353K|MACF1_ENST00000372915.3_Missense_Mutation_p.R5420K|MACF1_ENST00000567887.1_Missense_Mutation_p.R5452K|MACF1_ENST00000545844.1_Missense_Mutation_p.R3353K|MACF1_ENST00000361689.2_Missense_Mutation_p.R3353K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5420					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGCTGATAGAGAGAAAATC	0.483000													29	63					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70886424	70886424	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr6:70886424C>A	ENST00000322773.4	+	42	2737	c.2635C>A	c.(2635-2637)Cca>Aca	p.P879T	COL19A1_ENST00000393344.1_Missense_Mutation_p.P501T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	879	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGATCGAGGCCCAGCAGGTCC	0.398000													21	22					1.64293e-13	1.97536e-13	1	1	0
GAP43	2596	broad.mit.edu	37	3	115395168	115395168	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:115395168G>A	ENST00000393780.3	+	3	915	c.447G>A	c.(445-447)aaG>aaA	p.K149K	GAP43_ENST00000305124.6_Silent_p.K113K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	113					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGGAGAAGAAGGGGGAGGGTG	0.607000													13	50					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482413	156482413	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:156482413C>T	ENST00000339252.3	-	2	710	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	HAVCR1_ENST00000544197.1_Missense_Mutation_p.G60S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.G60S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.G60S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.G60S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	60	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGACAATGCCATTTTGGCAT	0.493000													14	47					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119121027	119121027	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:119121027G>A	ENST00000264245.4	+	10	1960	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	476					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGGAGCCCTCGCCGCGTAACC	0.592000													46	119					0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99564745	99564745	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:99564745C>A	ENST00000292401.4	-	4	914	c.778G>T	c.(778-780)Ggc>Tgc	p.G260C	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	260	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGGTAAGTGCCATTTCCATTG	0.622000													34	80					2.08457e-15	2.62911e-15	1	1	0
TTN	7273	broad.mit.edu	37	2	179443831	179443831	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:179443831G>T	ENST00000589042.1	-	320	68150	c.67926C>A	c.(67924-67926)ggC>ggA	p.G22642G	TTN_ENST00000342992.6_Silent_p.G20074G|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.G13769G|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.G13702G|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.G21001G|TTN_ENST00000460472.2_Silent_p.G13577G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21001	Fibronectin type-III 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCAGGCTTGCCAACAACCT	0.443000													35	57					7.11191e-15	8.7553e-15	1	1	0
IL5RA	3568	broad.mit.edu	37	3	3144489	3144489	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:3144489G>T	ENST00000446632.2	-	4	672	c.98C>A	c.(97-99)cCt>cAt	p.P33H	IL5RA_ENST00000438560.1_Missense_Mutation_p.P33H|IL5RA_ENST00000418488.2_Missense_Mutation_p.P33H|IL5RA_ENST00000256452.3_Missense_Mutation_p.P33H|IL5RA_ENST00000430514.2_Missense_Mutation_p.P33H|IL5RA_ENST00000456302.1_Missense_Mutation_p.P33H|IL5RA_ENST00000311981.8_Missense_Mutation_p.P33H|IL5RA_ENST00000445864.2_Missense_Mutation_p.P33H|IL5RA_ENST00000383846.1_Missense_Mutation_p.P33H	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	33					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GAAATTGACAGGTGGGAGAAG	0.343000													14	20					6.31663e-08	7.17587e-08	1	1	0
MYH13	8735	broad.mit.edu	37	17	10206726	10206726	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:10206726C>A	ENST00000418404.3	-	37	5719	c.5556G>T	c.(5554-5556)aaG>aaT	p.K1852N	MYH13_ENST00000570743.1_Missense_Mutation_p.K1852N|MYH13_ENST00000252172.4_Missense_Mutation_p.K1852N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1852					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1852N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAGTCATCTCCTTGACTTTGC	0.542000													56	131					4.88506e-25	6.59162e-25	1	1	0
FAM189A2	9413	broad.mit.edu	37	9	71998550	71998550	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:71998550G>C	ENST00000257515.8	+	7	919	c.499G>C	c.(499-501)Gtt>Ctt	p.V167L	FAM189A2_ENST00000455972.1_Missense_Mutation_p.V167L|FAM189A2_ENST00000303068.7_Missense_Mutation_p.V2L	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	167						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TCCTAGGATGGTTGGTCCTGA	0.537000													80	188					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488133	24488133	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:24488133G>A	ENST00000264463.4	-	12	2513	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	669					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATATCAAAGGCCTGGGTGTC	0.463000										HNSCC(23;0.051)			35	81					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65792739	65792739	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:65792739C>T	ENST00000312106.5	-	1	1249	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	371					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.R371H(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GACACGTGAGCGGATTGTGCT	0.557000													10	63					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1328777	1328777	+	Splice_Site	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:1328777A>G	ENST00000400809.3	-	5	663	c.659_splice	c.e5+1	p.W220_splice	CCNL2_ENST00000408952.5_5'UTR|CCNL2_ENST00000408918.4_Splice_Site_p.W220_splice	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	220	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TCAACTCACCATGAGGTCTGG	0.502000													29	77					0	0	1	0	0
C10orf11	83938	broad.mit.edu	37	10	77818527	77818527	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr10:77818527G>T	ENST00000372499.1	+	4	633	c.418G>T	c.(418-420)Gtg>Ttg	p.V140L	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	140										endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CTTCATGAAGGTGGTGAAGCC	0.498000													26	68					1.1804e-14	1.44167e-14	1	1	0
GPR119	139760	broad.mit.edu	37	X	129518776	129518776	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chrX:129518776G>T	ENST00000276218.2	-	1	735	c.646C>A	c.(646-648)Cgg>Agg	p.R216R		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	216						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CTGGGAGTCCGTGGGGATCGA	0.527000													29	26					1.17739e-12	1.40469e-12	1	1	0
CHRNA3	1136	broad.mit.edu	37	15	78893755	78893755	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:78893755A>T	ENST00000326828.5	-	5	1613	c.1229T>A	c.(1228-1230)aTa>aAa	p.I410K	CHRNA3_ENST00000348639.3_Missense_Mutation_p.I410K	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	410					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGAGATTTTTATCCTGCGGTG	0.502000													93	65					0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70618226	70618226	+	Splice_Site	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:70618226C>T	ENST00000370952.3	-	12	1408	c.1328_splice	c.e12-1	p.R443_splice		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	443										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GTTCTACCATCCTGAAACAAA	0.323000													21	35					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542517	133542517	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:133542517A>C	ENST00000409261.1	-	14	2240	c.1867T>G	c.(1867-1869)Ttt>Gtt	p.F623V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.F623V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	623							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATTTTCCAAACCCCACAAGG	0.478000													25	54					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129773388	129773388	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:129773388G>A	ENST00000226319.6	+	6	941	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	PHF17_ENST00000511647.1_Missense_Mutation_p.V221M|PHF17_ENST00000413543.2_Missense_Mutation_p.V221M|PHF17_ENST00000452328.2_Missense_Mutation_p.V209M|PHF17_ENST00000512960.1_Missense_Mutation_p.V221M	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		221					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAATGAGATGGTGTTCTGTGA	0.522000													24	52					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615567	4615567	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:4615567C>G	ENST00000450052.2	+	2	371	c.371C>G	c.(370-372)gCt>gGt	p.A124G	OR52I1_ENST00000530443.2_Missense_Mutation_p.A100G			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125V(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTTTAGTGCTTGTTTCACT	0.527000													45	105					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134851755	134851755	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:134851755G>A	ENST00000398015.3	+	5	1531	c.1161G>A	c.(1159-1161)acG>acA	p.T387T	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	387	Fibronectin type-III 1.		T -> M (in dbSNP:rs56396912).			integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.T387T(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGGCCTGACGGAGTGCCGCG	0.612000													20	42					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96950195	96950195	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:96950195C>T	ENST00000323853.5	-	31	4370	c.4293G>A	c.(4291-4293)aaG>aaA	p.K1431K	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1431	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTATGTCCCACTTCTCAGGGG	0.557000													37	98					0	0	1	0	0
FDX1L	112812	broad.mit.edu	37	19	10426109	10426109	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:10426109C>A	ENST00000452032.2	-	3	272	c.260G>T	c.(259-261)gGg>gTg	p.G87V	FDX1L_ENST00000393708.3_Missense_Mutation_p.G87V|FDX1L_ENST00000541276.1_Missense_Mutation_p.G90V|FDX1L_ENST00000494368.1_5'UTR|FDX1L_ENST00000492239.1_5'UTR																							AACATTGTCCCCGACTCTGCC	0.567000													18	98					8.10497e-08	9.17376e-08	1	1	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094303	77094303	+	Splice_Site	SNP	A	A	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:77094303A>G	ENST00000328299.3	+	5	879		c.e5-1			NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3						protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						tttcttttctAGGACAGAAGG	0.363000													22	30					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3129865	3129865	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:3129865C>G	ENST00000359864.2	+	9	839	c.649C>G	c.(649-651)Cgc>Ggc	p.R217G	TEAD4_ENST00000358409.2_Missense_Mutation_p.R174G|TEAD4_ENST00000397122.2_Missense_Mutation_p.R88G	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	217					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			ATGGCAGGGCCGCAGCGTGGC	0.657000													23	51					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196953185	196953185	+	Silent	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:196953185A>T	ENST00000367414.5	+	3	476	c.420A>T	c.(418-420)acA>acT	p.T140T	CFHR5_ENST00000256785.4_Silent_p.T116T	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	116	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTGCAACACAGGATACAGCC	0.403000													33	55					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447479	226447479	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:226447479T>G	ENST00000272907.6	+	4	1759	c.1346T>G	c.(1345-1347)cTg>cGg	p.L449R	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	449	Pro-rich.																CTGACTCCCCTGAGCCTCAAA	0.627000													10	43					0	0	1	0	0
RHEB	6009	broad.mit.edu	37	7	151167697	151167697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:151167697C>T	ENST00000262187.5	-	7	834	c.422G>A	c.(421-423)tGg>tAg	p.W141*	RHEB_ENST00000496004.1_Nonsense_Mutation_p.W36*|RHEB_ENST00000472642.1_Nonsense_Mutation_p.W36*	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	141					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AGCTGCATTCCAAGATTCTGC	0.343000													18	42					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134016058	134016058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:134016058C>T	ENST00000359428.5	+	11	1399	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	NUP214_ENST00000451030.1_Nonsense_Mutation_p.R419*|NUP214_ENST00000411637.2_Nonsense_Mutation_p.R419*|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	419					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AACACCAGAGCGACTTTCATT	0.433000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								4	96					0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44979515	44979515	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr20:44979515C>A	ENST00000372227.1	-	9	1392	c.852G>T	c.(850-852)ttG>ttT	p.L284F	SLC35C2_ENST00000372229.1_Missense_Mutation_p.L151F|SLC35C2_ENST00000243896.2_Missense_Mutation_p.L284F|SLC35C2_ENST00000543605.1_Missense_Mutation_p.L313F|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000317734.8_Missense_Mutation_p.L263F|SLC35C2_ENST00000372230.5_Missense_Mutation_p.L284F			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	284					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CTGCCAACAGCAAAGTGCAGA	0.587000													21	51					0.000295444	0.000307381	1	1	0
ANKHD1	54882	broad.mit.edu	37	5	139876563	139876563	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:139876563A>T	ENST00000297183.6	+	15	2828	c.2704A>T	c.(2704-2706)Atc>Ttc	p.I902F	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.I902F|ANKHD1_ENST00000360839.2_Missense_Mutation_p.I902F	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTGACACAATCTTATTTAA	0.448000													38	93					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501760	136501760	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:136501760G>A	ENST00000393056.2	+	1	279	c.267G>A	c.(265-267)atG>atA	p.M89I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	89	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TGTTTGGGATGTCCGACCGTG	0.607000													18	45					0	0	1	0	0
ORAI1	84876	broad.mit.edu	37	12	122079195	122079195	+	Silent	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:122079195G>T	ENST00000330079.7	+	2	751	c.558G>T	c.(556-558)acG>acT	p.T186T		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	184					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.T186T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TCATCGGCACGCTGCTCTTCC	0.632000													21	31					6.44725e-10	7.51774e-10	1	1	0
SLC24A2	25769	broad.mit.edu	37	9	19786496	19786496	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:19786496G>A	ENST00000341998.2	-	1	430	c.369C>T	c.(367-369)gaC>gaT	p.D123D	SLC24A2_ENST00000286344.3_Silent_p.D123D	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	123					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGGAAAAGATGTCTTTCGGGT	0.433000													24	42					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23872602	23872602	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:23872602G>T	ENST00000405093.3	-	10	923	c.853C>A	c.(853-855)Cac>Aac	p.H285N	MYH6_ENST00000356287.3_Missense_Mutation_p.H285N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	285	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TAGAAGATGTGGTAGTTTCTC	0.577000													93	221					2.0191e-50	2.94293e-50	1	1	0
SEMA3E	9723	broad.mit.edu	37	7	83014746	83014746	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:83014746T>C	ENST00000307792.3	-	16	2206	c.1739A>G	c.(1738-1740)gAt>gGt	p.D580G	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D520G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	580					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATCCAAAGCATCCCCTACAAC	0.363000													62	99					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154027464	154027464	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:154027464G>T	ENST00000496811.1	-	5	871	c.791C>A	c.(790-792)cCa>cAa	p.P264Q	DHX36_ENST00000544526.1_Missense_Mutation_p.P264Q|DHX36_ENST00000308361.6_Missense_Mutation_p.P264Q|DHX36_ENST00000329463.5_Missense_Mutation_p.P264Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	264	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AATTCTTCTTGGCTGAGTACA	0.348000													21	78					1.85244e-09	2.14384e-09	1	1	0
MFN1	55669	broad.mit.edu	37	3	179082100	179082100	+	Silent	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:179082100C>T	ENST00000471841.1	+	6	678	c.552C>T	c.(550-552)gtC>gtT	p.V184V	MFN1_ENST00000280653.7_Silent_p.V184V|MFN1_ENST00000263969.5_Silent_p.V184V	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	184					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GCACAGATGTCACTACAGAGC	0.323000													29	46					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66899501	66899501	+	Missense_Mutation	SNP	G	G	C	rs75339580	by1000genomes	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:66899501G>C	ENST00000269080.2	-	18	2555	c.2418C>G	c.(2416-2418)tgC>tgG	p.C806W	ABCA8_ENST00000430352.2_Missense_Mutation_p.C846W|ABCA8_ENST00000586539.1_Missense_Mutation_p.C846W	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	806						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGCAATTGCGCAGATTTGCT	0.408000													45	146					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84267137	84267137	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:84267137T>C	ENST00000376499.3	-	6	1428	c.364A>G	c.(364-366)Atc>Gtc	p.I122V	TLE1_ENST00000376463.1_Missense_Mutation_p.I66V|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	122	Gln-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACCCCGATGATGGCATTCAAT	0.463000													69	164					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20451388	20451388	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:20451388C>A	ENST00000361078.2	-	20	3181	c.3159G>T	c.(3157-3159)ccG>ccT	p.P1053P	PUM2_ENST00000319801.5_Silent_p.P974P|PUM2_ENST00000403432.1_Silent_p.P1051P|PUM2_ENST00000536417.1_Silent_p.P995P|PUM2_ENST00000338086.5_Silent_p.P1051P			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	1053					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCTAGGTCCGGGCTATTCT	0.378000													37	110					2.20474e-14	2.68214e-14	1	1	0
H2AFZ	3015	broad.mit.edu	37	4	100870880	100870880	+	Silent	SNP	T	T	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr4:100870880T>A	ENST00000296417.5	-	2	238	c.21A>T	c.(19-21)ggA>ggT	p.G7G	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	7	Required for interaction with INCENP (By similarity).				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CGGAGTCCTTTCCAGCCTTAC	0.622000													44	97					0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172414217	172414217	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:172414217C>T	ENST00000367727.4	+	2	224	c.26C>T	c.(25-27)tCt>tTt	p.S9F		NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	9										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTCTAGGCTTCTGTTCCAAAA	0.423000													12	28					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95034604	95034604	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr14:95034604G>T	ENST00000557004.1	+	4	1483	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	SERPINA4_ENST00000555095.1_Missense_Mutation_p.Q354H|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.Q354H			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	354					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCACCAAACAGCAAAAACTGG	0.532000													27	62					2.41591e-17	3.13662e-17	1	1	0
FLG	2312	broad.mit.edu	37	1	152276039	152276039	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:152276039C>T	ENST00000368799.1	-	3	11358	c.11323G>A	c.(11323-11325)Gag>Aag	p.E3775K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3775	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E3775*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGATTGCTCGTGGTAGGAT	0.597000									Ichthyosis				6	754					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65623395	65623395	+	Silent	SNP	C	C	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr15:65623395C>A	ENST00000327987.4	-	9	1805	c.1554G>T	c.(1552-1554)ctG>ctT	p.L518L		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	518										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACCTTCACCCAGGGTGCTAG	0.587000													10	81					2.17888e-05	2.32163e-05	1	1	0
OR8U1	219417	broad.mit.edu	37	11	56143644	56143644	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr11:56143644T>C	ENST00000302270.1	+	1	545	c.545T>C	c.(544-546)aTg>aCg	p.M182T		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TGTGATGACATGCCTCTCCTC	0.453000													54	291					0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21614000	21614000	+	Silent	SNP	G	G	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:21614000G>A	ENST00000538582.1	+	8	1332	c.579G>A	c.(577-579)aaG>aaA	p.K193K	PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000240651.9_Silent_p.K264K			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	264							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GTGAAGTAAAGAAAATCTACC	0.328000													20	43					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103544216	103544216	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr1:103544216delC	ENST00000358392.2	-	3	803	c.486delG	c.(484-486)ggfs	p.G162fs	COL11A1_ENST00000370096.3_Frame_Shift_Del_p.G162fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G162fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G162fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	162	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTACTTACTTCCCGTCAGCGA	0.358													22	42	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65894933	65894933	+	RNA	DEL	A	A	-			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr2:65894933delA	ENST00000377977.3	+	0	862																											TCAGAGGTTTAAAAAAAAAAA	0.517													2	4	---	---	---	---					
CLASP2	23122	broad.mit.edu	37	3	33645691	33645691	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:33645691delA	ENST00000399362.4	-	17	2058	c.1705delT	c.(1705-1707)ctfs	p.S570fs	CLASP2_ENST00000461133.3_Frame_Shift_Del_p.S337fs|CLASP2_ENST00000487200.1_Frame_Shift_Del_p.S343fs|CLASP2_ENST00000313350.6_Frame_Shift_Del_p.S343fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.S59fs|CLASP2_ENST00000333778.6_Frame_Shift_Del_p.S347fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.S337fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.S571fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.S570fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.S322fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	571										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CATTTGGAAGAAAAAGGGCGA	0.323													2	4	---	---	---	---					
ALG1L2	644974	broad.mit.edu	37	3	129814807	129814807	+	RNA	DEL	G	G	-	rs71158106		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:129814807delG	ENST00000507643.1	+	0	456							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CACTCCCCTCGGGGGGTGTTG	0.607													2	4	---	---	---	---					
CP	1356	broad.mit.edu	37	3	148939561	148939567	+	Frame_Shift_Del	DEL	CAAGTAT	CAAGTAT	-			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr3:148939561_148939567delCAAGTAT	ENST00000264613.6	-	1	275_281	c.13_19delATACTTG	c.(13-21)gtfs	p.ILG5fs		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	5					cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGAAAAATACCAAGTATCAAAATCTTC	0.357													18	68	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176707779	176707780	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr5:176707779_176707780insT	ENST00000439151.2	+	18	5881_5882	c.5836_5837insT	c.(5836-5838)tttfs	p.F1946fs	NSD1_ENST00000354179.4_Frame_Shift_Ins_p.F1677fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.F1677fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.F1843fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1946	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAGGTTGAAATTTTCCGCACA	0.465			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			12	68	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100389573	100389581	+	RNA	DEL	CTGTCTCTA	CTGTCTCTA	-			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr7:100389573_100389581delCTGTCTCTA	ENST00000542585.1	+	0	7674				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACCCCGTGGCTGTCTCTACTGCAGGGCT	0.651													16	24	---	---	---	---					
ADAMDEC1	27299	broad.mit.edu	37	8	24249885	24249885	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:24249885delG	ENST00000256412.4	+	2	419	c.199delG	c.(199-201)gcfs	p.G67fs	ADAMDEC1_ENST00000538205.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Intron|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	67					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGAAAAGCATGGCAAAGAGGT	0.363													8	31	---	---	---	---					
KCNV1	27012	broad.mit.edu	37	8	110980721	110980722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr8:110980721_110980722insA	ENST00000524391.1	-	4	2130_2131	c.1098_1099insT	c.(1096-1101)ttctgafs	p.*367fs	KCNV1_ENST00000297404.1_Frame_Shift_Ins_p.*367fs			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	367						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTTTGCTCAGCAAAGTATTCTA	0.480													26	52	---	---	---	---					
FAM74A3	728495	broad.mit.edu	37	9	40715923	40715924	+	RNA	DEL	AA	AA	-	rs62565543		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr9:40715923_40715924delAA	ENST00000604146.1	+	0	262_263					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													3	6	---	---	---	---					
CCDC41	51134	broad.mit.edu	37	12	94794751	94794751	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr12:94794751delC	ENST00000397809.5	-	6	973	c.424delG	c.(424-426)aafs	p.E142fs	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Frame_Shift_Del_p.E109fs|CCDC41_ENST00000547575.1_Frame_Shift_Del_p.E142fs|CCDC41_ENST00000339839.5_Frame_Shift_Del_p.E142fs	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	134										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTATACTTTTCTACCTCCTAA	0.294													25	74	---	---	---	---					
SPG7	6687	broad.mit.edu	37	16	89613072	89613073	+	Frame_Shift_Ins	INS	-	-	G	rs111475461	byFrequency	TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr16:89613072_89613073insG	ENST00000268704.2	+	11	1471_1472	c.1456_1457insG	c.(1456-1458)ggafs	p.G486fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	486			R -> Q.		cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCAGGAGAGGCGGGAGATTTTT	0.594													8	209	---	---	---	---					
CD300C	10871	broad.mit.edu	37	17	72541049	72541050	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr17:72541049_72541050insC	ENST00000330793.1	-	2	458_459	c.98_99insG	c.(97-99)gccfs	p.A33fs		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	33	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCCCCACGGGGCCCGCCACGGT	0.564													7	191	---	---	---	---					
ZNF567	163081	broad.mit.edu	37	19	37210374	37210375	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr19:37210374_37210375insA	ENST00000585696.1	+	3	1885_1886	c.655_656insA	c.(655-657)aaafs	p.K219fs	ZNF567_ENST00000536254.2_Frame_Shift_Ins_p.K250fs|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Frame_Shift_Ins_p.K219fs|ZNF567_ENST00000392163.2_Frame_Shift_Ins_p.K219fs|ZNF567_ENST00000588311.1_Frame_Shift_Ins_p.K219fs			Q8N184	ZN567_HUMAN	zinc finger protein 567	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACCAATATTGAAAAAAAACAT	0.351													8	12	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	RNA	DEL	CAC	CAC	-	rs142037179		TCGA-CN-A641-01A-11D-A30E-08	TCGA-CN-A641-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d69e0e1d-5af2-4006-92f7-399d77c8f546	d8066c9f-c84c-4c5c-895c-d5c405e13faa	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458																											caccatccatcaccaacagaaac	0.443													3	3	---	---	---	---