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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CCDC102A	92922	broad.mit.edu	37	16	57552091	57552091	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:57552091C>T	uc002elw.3	-	5	1350	c.1137G>A	c.(1135-1137)cgG>cgA	p.R379R		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	379										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CGACCTGTGCCCGCAGCTTCT	0.701000														121			65		0	0	0.003610	0	0
GGA1	26088	broad.mit.edu	37	22	38021897	38021897	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:38021897C>G	uc003atc.3	+	10	1421	c.1034C>G	c.(1033-1035)gCc>gGc	p.A345G	GGA1_uc003ate.3_Missense_Mutation_p.A345G|GGA1_uc003atd.3_Intron|GGA1_uc003atf.3_Missense_Mutation_p.A272G	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	345	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGCGAGCAGGCCAGCCCTGAG	0.687000														69			31		0	0	0.005524	0	0
KCNA6	3742	broad.mit.edu	37	12	4919429	4919430	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:4919429_4919430CC>TT	uc001qng.3	+	0	1088_1089	c.222_223CC>TT	c.(220-225)gtccgc>gtTTgc	p.R75C	KCNA6_uc021qtr.1_Missense_Mutation_p.R75C	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	75						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GCCGGCGAGTCCGCTTCTTCGA	0.629000										HNSCC(72;0.22)				65			25		0	0	0.004672	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578297	141578297	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:141578297G>A	uc010ioj.3	-	12	2563	c.2291C>T	c.(2290-2292)cCt>cTt	p.P764L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	764						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCAGGGTAAGGTTCCACATC	0.488000														72			32		0	0	0.002096	0	0
PDHA2	5161	broad.mit.edu	37	4	96761854	96761854	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:96761854G>A	uc003htr.4	+	0	616	c.553G>A	c.(553-555)Gat>Aat	p.D185N		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	185					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.N184N(3)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TAAAGGAAACGATGAGATCTG	0.483000														72			23		0	0	0.002780	0	0
DNAJC5B	85479	broad.mit.edu	37	8	67012243	67012243	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:67012243C>T	uc003xvs.1	+	5	868	c.577C>T	c.(577-579)Cga>Tga	p.R193*	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	193					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGAAGGATCTCGAAGTTATTG	0.433000														32			11		0	0	0.008291	0	0
AV2S1A1	0	broad.mit.edu	37	14	22356561	22356561	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:22356561C>T	uc021rph.1	+	1	324	c.222C>T	c.(220-222)tcC>tcT	p.S74S	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Silent_p.S74S|AV2S1A1_uc021rpi.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 117-2.																		TCATATACTCCAATGGTGACA	0.463000														143			60		0	0	0.003610	0	0
ITGAD	3681	broad.mit.edu	37	16	31427542	31427542	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:31427542C>T	uc010cap.1	+	18	2344	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	ITGAD_uc002ebv.1_Silent_p.F764F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	764					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGCTCCCCTTCGAGAAGAACT	0.498000														12			3		0	0	0.004672	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43283947	43283947	+	RNA	SNP	T	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:43283947T>C	uc001mxe.1	-	1		c.989A>G								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		CACTCTGTGGTTCATAAGCCA	0.448000														15			3		0	0	0.000248	0	0
LRRC3	81543	broad.mit.edu	37	21	45876772	45876772	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:45876772G>A	uc021wjs.1	+	0	245	c.245G>A	c.(244-246)gGg>gAg	p.G82E	LRRC3_uc002zfa.3_Missense_Mutation_p.G82E	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	82						integral to membrane	protein binding	p.G82R(1)		endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CTCCCGGACGGGGCCTTCCAG	0.677000														51			17		0	0	0.008871	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567237	140567237	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140567237G>A	uc003liw.1	+	0	345	c.345G>A	c.(343-345)caG>caA	p.Q115Q		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	115	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCCCTTTCAGATTTACCGGG	0.428000														27			5		0	0	0.001984	0	0
CAMK2G	818	broad.mit.edu	37	10	75634172	75634172	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:75634172G>A	uc001jvv.2	-	0	178	c.48C>T	c.(46-48)ctC>ctT	p.L16L	CAMK2G_uc001jvs.2_Silent_p.L16L|CAMK2G_uc001jvm.2_Silent_p.L16L|CAMK2G_uc001jvo.2_Silent_p.L16L|CAMK2G_uc001jvp.2_Silent_p.L16L|CAMK2G_uc001jvq.2_Silent_p.L16L|CAMK2G_uc001jvr.2_Silent_p.L16L|CAMK2G_uc001jvt.2_Non-coding_Transcript|CAMK2G_uc010qkv.2_5'UTR	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA.	16	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					GCTCCTCGAAGAGCTGGTAGT	0.756000														23			15		0	0	0.004007	0	0
ZNF239	8187	broad.mit.edu	37	10	44053482	44053482	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:44053482G>A	uc001jaw.4	-	1	699	c.46C>T	c.(46-48)Cga>Tga	p.R16*	ZNF239_uc001jax.4_Nonsense_Mutation_p.R16*|ZNF239_uc009xmj.3_Nonsense_Mutation_p.R16*|ZNF239_uc009xmk.3_Nonsense_Mutation_p.R16*|ZNF239_uc021pph.1_Nonsense_Mutation_p.R16*	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACTTCCCCTCGATGATTCACA	0.463000														29			11		0	0	0.000978	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715696	77715696	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:77715696C>T	uc001xtf.2	+	20	2145	c.1933C>T	c.(1933-1935)Ccc>Tcc	p.P645S	TMEM63C_uc010asq.1_Missense_Mutation_p.P645S	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	645						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTCCTTTGCACCCACCAAACT	0.537000														81			34		0	0	0.006230	0	0
FOSL2	2355	broad.mit.edu	37	2	28635280	28635280	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:28635280G>A	uc002rma.3	+	3	1755	c.946G>A	c.(946-948)Gac>Aac	p.D316N	FOSL2_uc021vfg.1_Missense_Mutation_p.D308N|FOSL2_uc010ymi.2_Missense_Mutation_p.D277N	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	316					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCAATCATCAGACTCCTTGAA	0.632000														28			17		0	0	0.006122	0	0
CLASP2	23122	broad.mit.edu	37	3	33552178	33552178	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:33552178G>A	uc021wvc.1	-	36	4424	c.4213C>T	c.(4213-4215)Cct>Tct	p.P1405S	CLASP2_uc003cfs.3_Missense_Mutation_p.P604S|CLASP2_uc021wva.1_Missense_Mutation_p.P479S|CLASP2_uc021wvb.1_Missense_Mutation_p.P1184S	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1406										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						TGAATGATAGGACAAAGCACT	0.413000														31			10		0	0	0.000978	0	0
CSMD2	114784	broad.mit.edu	37	1	34100903	34100903	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:34100903G>A	uc001bxm.1	-	30	5174	c.4997C>T	c.(4996-4998)tCg>tTg	p.S1666L	CSMD2_uc001bxn.1_Missense_Mutation_p.S1626L|CSMD2_uc001bxo.1_Missense_Mutation_p.S539L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1626	CUB 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)				CACTCCGTCCGAACCCACATA	0.527000											OREG0013349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			4		0	0	0.000248	0	0
USP6	9098	broad.mit.edu	37	17	5048705	5048705	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:5048705G>A	uc002gau.1	+	26	4228	c.1998G>A	c.(1996-1998)tgG>tgA	p.W666*	USP6_uc002gav.1_Nonsense_Mutation_p.W666*|USP6_uc010ckz.1_Nonsense_Mutation_p.W349*	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	666					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCTAGGCCTGGGACAACCATC	0.343000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									37			8		0	0	0.006214	0	0
KIF13A	63971	broad.mit.edu	37	6	17772169	17772169	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:17772169G>A	uc003ncg.4	-	36	4606	c.4446C>T	c.(4444-4446)gcC>gcT	p.A1482A	KIF13A_uc003ncf.3_Silent_p.A1469A|KIF13A_uc003nch.4_Silent_p.A1482A|KIF13A_uc003nci.4_Silent_p.A1469A|KIF13A_uc003nce.2_Silent_p.A68A	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1482					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTGCTTCCAGGGCTATCCTTT	0.468000														289			216		0	0	0.003610	0	0
DUOX2	50506	broad.mit.edu	37	15	45389470	45389470	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:45389470C>T	uc001zun.3	-	28	4016	c.3813G>A	c.(3811-3813)gaG>gaA	p.E1271E	DUOX2_uc010bea.3_Silent_p.E1271E	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1271	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCACGCTGATCTCCACCTTCT	0.587000														76			30		0	0	0.002096	0	0
CFHR2	3080	broad.mit.edu	37	1	196928040	196928040	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:196928040G>A	uc001gtq.1	+	4	720	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CFHR2_uc001gtr.1_Missense_Mutation_p.E91K	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	215	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AGAAATTATGGAAAAATATAA	0.284000														24			9		0	0	0.006214	0	0
LAMA3	3909	broad.mit.edu	37	18	21478738	21478738	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:21478738C>T	uc002kuq.3	+	44	5736	c.5650C>T	c.(5650-5652)Cat>Tat	p.H1884Y	LAMA3_uc002kur.3_Missense_Mutation_p.H1884Y|LAMA3_uc002kus.4_Missense_Mutation_p.H275Y|LAMA3_uc002kut.4_Missense_Mutation_p.H275Y	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1884	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATTTCAAATCATGGATCAAA	0.358000														44			25		0	0	0.007291	0	0
ALOX5AP	241	broad.mit.edu	37	13	31338174	31338174	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:31338174C>T	uc010tdr.2	+	5	836	c.588C>T	c.(586-588)ttC>ttT	p.F196F	ALOX5AP_uc001utf.2_Silent_p.F139F	NM_001204406	NP_001191335	P20292	AL5AP_HUMAN	Homo sapiens arachidonate 5-lipoxygenase-activating protein (ALOX5AP), transcript variant 2, mRNA.	139					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		TCTTCTTTTTCGGAAGTGACT	0.448000														121			38		0	0	0.005524	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85517990	85517990	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:85517990C>T	uc001tac.3	+	16	3811	c.3700C>T	c.(3700-3702)Cat>Tat	p.H1234Y	LRRIQ1_uc021rbo.1_Missense_Mutation_p.H1112Y	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1234								p.H1234Y(5)|p.H1234L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCAGAAAAATCATTTGGCCCC	0.423000														54			21		0	0	0.002299	0	0
ITIH5	80760	broad.mit.edu	37	10	7657990	7657990	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:7657990G>A	uc021pmv.1	-	6	1000	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ITIH5_uc021pmu.1_Silent_p.F84F|ITIH5_uc001ijr.2_Silent_p.F298F	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	298	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGTCAAGCACGAATACCACAT	0.478000														90			34		0	0	0.006230	0	0
DPY19L4	286148	broad.mit.edu	37	8	95768290	95768290	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:95768290C>T	uc003ygx.2	+	6	762	c.638C>T	c.(637-639)tCc>tTc	p.S213F		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	213						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTGAATACTCCATTCCTTTA	0.313000														345			135		0	0	0.003610	0	0
PADI4	23569	broad.mit.edu	37	1	17681136	17681136	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:17681136G>A	uc001baj.2	+	10	1292	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	422					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CAGGGGCAAGGAATACCCGCT	0.572000														46			7		0	0	0.003080	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433628	69433628	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:69433628G>A	uc021xov.1	-	0	618	c.575C>T	c.(574-576)cCt>cTt	p.P192L		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	192					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TACATAGGAAGGAGGGAACAG	0.383000														128			50		0	0	0.003610	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:35930362T>C	uc010kxc.3	+	9	1175	c.951T>C	c.(949-951)taT>taC	p.Y317Y	SEPT7_uc011kat.2_Silent_p.Y317Y|SEPT7_uc011kau.2_Silent_p.Y283Y|SEPT7_uc011kav.2_Silent_p.Y266Y	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000														26			3		0	0	0.004672	0	0
TAP1	6890	broad.mit.edu	37	6	32814931	32814931	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:32814931C>A	uc003ocg.3	-	9	2289	c.2134G>T	c.(2134-2136)Gcg>Tcg	p.A712S	PSMB8_uc003ocf.3_5'Flank|TAP1_uc011dqi.2_Missense_Mutation_p.A451S	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	712	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CGGGCCAACGCCACTGCCTGT	0.577000														95			29		3.57733e-08	5.03149e-08	0.001786	1	0
PNN	5411	broad.mit.edu	37	14	39645288	39645288	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:39645288C>T	uc001wuw.4	+	1	217	c.120C>T	c.(118-120)atC>atT	p.I40I		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	40	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		ACAGGCCCATCCAAGCCAGAT	0.423000														50			17		0	0	0.006122	0	0
GHRHR	2692	broad.mit.edu	37	7	31008693	31008693	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:31008693G>A	uc003tbx.3	+	2	224	c.176G>A	c.(175-177)tGg>tAg	p.W59*	GHRHR_uc003tby.3_5'Flank|GHRHR_uc003tbz.3_5'Flank	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	59					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCTGCGACCTGGGATGGGCTG	0.622000														11			5		0	0	0.000602	0	0
GRIA1	2890	broad.mit.edu	37	5	153085391	153085391	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:153085391C>T	uc011dcy.2	+	10	1644	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	GRIA1_uc003lva.4_Silent_p.F529F|GRIA1_uc003luy.4_Silent_p.F529F|GRIA1_uc003luz.4_Silent_p.F434F|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.F449F|GRIA1_uc011dcx.2_Silent_p.F460F|GRIA1_uc011dcz.2_Silent_p.F539F|GRIA1_uc010jia.1_Silent_p.F509F	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	529					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGGGTGTCTTCTCCTTCCTTG	0.443000														122			20		0	0	0.002299	0	0
AHCTF1	25909	broad.mit.edu	37	1	247063765	247063765	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:247063765G>A	uc001ibv.2	-	8	1248	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	AHCTF1_uc009xgs.1_5'Flank	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	375	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.S375L(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGTGTCAGGCGATAGAGCTGG	0.328000														48			29		0	0	0.007291	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205566	36205566	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:36205566G>A	uc002oay.3	+	1	248	c.38G>A	c.(37-39)gGc>gAc	p.G13D	ZBTB32_uc002oaz.3_Non-coding_Transcript	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA.	13					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCCCTATGGCTCTGATCGG	0.597000														82			53		0	0	0.003610	0	0
DSCAML1	57453	broad.mit.edu	37	11	117310610	117310611	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:117310610_117310611GG>AA	uc001prh.1	-	21	4086_4087	c.4084_4085CC>TT	c.(4084-4086)cct>TTt	p.P1362F		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1302	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTTCATCCAAGGTGTTGTCACG	0.564000														99			50		0	0	0.004672	0	0
POTEC	388468	broad.mit.edu	37	18	14534953	14534953	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:14534953C>T	uc010dln.3	-	3	1318	c.864G>A	c.(862-864)gtG>gtA	p.V288V	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	288										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTAAAAATTTCACCACTTGCT	0.299000														62			10		0	0	0.001523	0	0
SAMD9	54809	broad.mit.edu	37	7	92731662	92731663	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:92731662_92731663AG>GA	uc003umf.3	-	2	4018_4019	c.3748_3749CT>TC	c.(3748-3750)ctc>TCc	p.L1250S	SAMD9_uc003umg.3_Missense_Mutation_p.L1250S|SAMD9_uc022ahg.1_Missense_Mutation_p.L1250S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1250						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATAGTTTTTGAGGGCTAATTTA	0.277000														75			23		0	0	0.004672	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870087	151870087	+	Silent	SNP	G	A	A	rs79585035		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:151870087G>A	uc022chf.1	+	0	777	c.777G>A	c.(775-777)cgG>cgA	p.R259R	MAGEA6_uc004ffq.1_Silent_p.R259R|MAGEA6_uc004ffr.1_Silent_p.R259R	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	259	MAGE.						protein binding	p.R259R(1)|p.R259Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGTACCGGCAGGTCCCCG	0.522000														59			65		0	0	0.003610	0	0
GABRB3	2562	broad.mit.edu	37	15	26806142	26806142	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:26806142C>T	uc001zbb.3	-	8	1288	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	GABRB3_uc021sgg.1_Silent_p.Q268Q|GABRB3_uc021sgh.1_Silent_p.Q254Q|GABRB3_uc001zaz.3_Silent_p.Q339Q|GABRB3_uc001zba.3_Silent_p.Q339Q	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	339					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAAGCTTCTTCTGCCTTTGAG	0.507000														110			46		0	0	0.002222	0	0
COL6A5	256076	broad.mit.edu	37	3	130095535	130095535	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:130095535G>A	uc010htj.1	+	2	1017	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	175	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGCTTCTGAGGAAAATCTGAA	0.493000														14			3		0	0	0.004672	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463384	241463384	+	Silent	SNP	A	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:241463384A>G	uc010fzd.1	-	7	1875	c.1750T>C	c.(1750-1752)Ttg>Ctg	p.L584L	ANKMY1_uc002vzb.1_Silent_p.L256L|ANKMY1_uc002vzc.1_Silent_p.L354L|ANKMY1_uc002vyz.1_Silent_p.L495L|ANKMY1_uc002vza.1_Silent_p.L354L|ANKMY1_uc002vzd.1_Silent_p.L354L|ANKMY1_uc010fze.2_Silent_p.L164L|ANKMY1_uc002vze.3_Silent_p.L256L	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	495							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ATCTTCAGCAAGCTGTGGGAC	0.597000														53			33		0	0	0.002445	0	0
FANCD2	2177	broad.mit.edu	37	3	10089610	10089610	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:10089610G>A	uc003buw.3	+	15	1366	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	FANCD2_uc003bux.1_Missense_Mutation_p.D430N|FANCD2_uc003buy.1_Missense_Mutation_p.D430N|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	430					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GGTTCTTAAGGATATGTGTTC	0.398000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					313			35		0	0	0.002222	0	0
LRRC58	116064	broad.mit.edu	37	3	120054784	120054784	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:120054784G>A	uc003edr.2	-	1	613	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F		NM_001099678	NP_001093148	Q96CX6	LRC58_HUMAN	Homo sapiens leucine rich repeat containing 58 (LRRC58), mRNA.	173										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TTTCCTCCAAGATATAAACAC	0.313000														42			9		0	0	0.004482	0	0
OR4C12	283093	broad.mit.edu	37	11	50003119	50003119	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:50003119C>T	uc010ria.2	-	0	953	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TAATCATTATCTGAAGTCACT	0.373000														22			15		0	0	0.003163	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				138			60		3.86002e-21	5.5093e-21	0.003610	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140235856	140235856	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140235856G>A	uc003lhx.2	+	0	223	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.E75K|PCDHAC2_uc011dad.2_Missense_Mutation_p.E75K	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	91	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCTTCTGGAGGTAAATCT	0.617000														192			32		0	0	0.001786	0	0
NXPH2	11249	broad.mit.edu	37	2	139428990	139428990	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:139428990C>T	uc002tvi.3	-	1	297	c.297G>A	c.(295-297)cgG>cgA	p.R99R		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	99	III.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CTATTGGCCTCCGTTTAGTTC	0.458000														73			26		0	0	0.003330	0	0
HMCN1	83872	broad.mit.edu	37	1	185970529	185970529	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:185970529C>T	uc001grq.1	+	26	4398	c.4169C>T	c.(4168-4170)cCc>cTc	p.P1390L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1390	Ig-like C2-type 11.				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						ACTCCATCTCCCATCATTATG	0.388000														53			13		0	0	0.002450	0	0
DOCK9	23348	broad.mit.edu	37	13	99515291	99515291	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:99515291G>A	uc001vnt.2	-	31	3619	c.3564C>T	c.(3562-3564)ttC>ttT	p.F1188F	DOCK9_uc001vnw.2_Silent_p.F1187F|DOCK9_uc021rlw.1_Silent_p.F1187F|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.F1188F|DOCK9_uc010tis.1_Silent_p.F1187F|DOCK9_uc010tit.1_Silent_p.F1188F|DOCK9_uc010tiq.1_Silent_p.F166F|DOCK9_uc010afu.1_Silent_p.F1034F	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1188					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGTTCACAGGGAAGGGTGACA	0.537000														14			3		0	0	0.000248	0	0
TBC1D29	26083	broad.mit.edu	37	17	28887652	28887652	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:28887652C>T	uc002hfh.3	+	2	787	c.96C>T	c.(94-96)acC>acT	p.T32T	TBC1D29_uc002hfi.3_Non-coding_Transcript|DQ578661_uc021tue.1_5'Flank|DQ575791_uc002hfj.1_5'Flank	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	Homo sapiens TBC1 domain family, member 29 (TBC1D29), mRNA.	32	Rab-GAP TBC; truncated.					intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				TCGGGCTCACCCCGTGCCTGT	0.557000														66			23		0	0	0.002780	0	0
OR2F2	135948	broad.mit.edu	37	7	143633213	143633213	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:143633213G>C	uc011ktv.2	+	0	888	c.888G>C	c.(886-888)gaG>gaC	p.E296D		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GGAATAAAGAGGTGAAGGGGG	0.428000														61			21		0	0	0.001523	0	0
ANXA6	309	broad.mit.edu	37	5	150512090	150512090	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:150512090G>A	uc003ltl.2	-	9	911	c.683C>T	c.(682-684)gCc>gTc	p.A228V	ANXA6_uc011dcp.2_Missense_Mutation_p.A196V|ANXA6_uc003lto.2_Intron	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	228						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGGATGCTGGCTTCAATCGG	0.542000														14			11		0	0	0.002450	0	0
ABLIM1	3983	broad.mit.edu	37	10	116225525	116225525	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:116225525G>A	uc021pyx.1	-	11	1472	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	ABLIM1_uc021pyw.1_Missense_Mutation_p.S458F|ABLIM1_uc021pyy.1_Missense_Mutation_p.S426F|ABLIM1_uc021pyz.1_Missense_Mutation_p.S392F|ABLIM1_uc021pza.1_Missense_Mutation_p.S398F|ABLIM1_uc021pze.1_Missense_Mutation_p.S382F|ABLIM1_uc021pzf.1_Missense_Mutation_p.S420F|ABLIM1_uc021pyv.1_Missense_Mutation_p.S163F|ABLIM1_uc021pzb.1_Missense_Mutation_p.S135F|ABLIM1_uc021pzc.1_Missense_Mutation_p.S109F|ABLIM1_uc021pzd.1_Missense_Mutation_p.S306F|ABLIM1_uc021pyu.1_Missense_Mutation_p.S170F	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	458					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTACACAGGGGAGTTGATGGA	0.547000														134			30		0	0	0.001786	0	0
NLRP13	126204	broad.mit.edu	37	19	56443675	56443675	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:56443675C>T	uc010ygg.2	-	0	28	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	1	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGAAAAGTTCATCTTGCCCA	0.478000														32			40		0	0	0.007835	0	0
PIK3R6	146850	broad.mit.edu	37	17	8739899	8739899	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:8739899C>T	uc002glq.1	-	6	666	c.426G>A	c.(424-426)caG>caA	p.Q142Q	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	142					platelet activation	cytosol											TCGTCAAGTTCTGTTCGGCAA	0.507000														40			21		0	0	0.003330	0	0
OR4K2	390431	broad.mit.edu	37	14	20344665	20344665	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:20344665A>T	uc001vwh.1	+	0	239	c.239A>T	c.(238-240)aAg>aTg	p.K80M		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K80N(1)		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)		GCCACCCCAAAGATGATTACA	0.413000														137			56		0	0	0.003610	0	0
PMS2P3	5387	broad.mit.edu	37	7	75155272	75155272	+	RNA	SNP	C	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:75155272C>A	uc022agi.1	-	1		c.580G>T			PMS2P3_uc003udq.3_Non-coding_Transcript|PMS2P3_uc022agj.1_Non-coding_Transcript					Homo sapiens postmeiotic segregation increased 2 pseudogene 3 (PMS2P3), non-coding RNA.											lung(1)	1						TGGAAACATGCAGAGACTGTG	0.453000														40			19		0.00074312	0.00103591	0.006122	1	0
RBL1	5933	broad.mit.edu	37	20	35663762	35663762	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:35663762G>A	uc002xgi.3	-	14	2132	c.2053C>T	c.(2053-2055)Cct>Tct	p.P685S	RBL1_uc002xgj.1_Missense_Mutation_p.P685S	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	685	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTTGAAGAAGGAGCGATTTTC	0.423000														60			23		0	0	0.004656	0	0
TNFRSF17	608	broad.mit.edu	37	16	12059218	12059218	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:12059218T>A	uc002dbv.3	+	0	255	c.37T>A	c.(37-39)Tat>Aat	p.Y13N	TNFRSF17_uc010buy.3_Missense_Mutation_p.Y13N|TNFRSF17_uc010buz.3_Missense_Mutation_p.Y13N	NM_001192	NP_001183	Q02223	TNR17_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA.	13					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CCAAAATGAATATTTTGACAG	0.398000			T	IL2	intestinal T-cell lymphoma									162			5		0	0	0.001168	0	0
FAT1	2195	broad.mit.edu	37	4	187535406	187535406	+	Silent	SNP	A	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:187535406A>C	uc003izf.3	-	11	9356	c.9168T>G	c.(9166-9168)gcT>gcG	p.A3056A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3056	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAGTAATTTCAGCGTTAGAGC	0.393000										HNSCC(5;0.00058)				149			29		0	0	0.008361	0	0
ADAM29	11086	broad.mit.edu	37	4	175897020	175897020	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:175897020C>T	uc003iuc.3	+	4	1014	c.344C>T	c.(343-345)tCc>tTc	p.S115F	ADAM29_uc003iud.3_Missense_Mutation_p.S115F|ADAM29_uc010irr.3_Missense_Mutation_p.S115F|ADAM29_uc011cki.2_Missense_Mutation_p.S115F|ADAM29_uc021xuo.1_Missense_Mutation_p.S115F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	115					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S115F(4)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCCCTGGTTTCCCTCAGTACC	0.443000														63			19		0	0	0.002299	0	0
DSCR6	53820	broad.mit.edu	37	21	38390367	38390367	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:38390367G>A	uc002yvv.3	+	3	643	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	DSCR6_uc011aec.2_Silent_p.R31R|DSCR6_uc010gnd.3_Silent_p.R31R	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	145						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				AGGTCGGCAGGAAAATGGCCC	0.632000														25			14		0	0	0.001855	0	0
COL11A2	1302	broad.mit.edu	37	6	33156871	33156871	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:33156871G>A	uc003ocx.1	-	2	555	c.327C>T	c.(325-327)gtC>gtT	p.V109V	COL11A2_uc003ocy.1_Silent_p.V109V|COL11A2_uc003ocz.1_Silent_p.V109V|COL11A2_uc003oda.3_Silent_p.V109V	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	109	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAGCTGTCGGACACCCTGGG	0.607000														122			29		0	0	0.002096	0	0
NUAK2	81788	broad.mit.edu	37	1	205272734	205272734	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:205272734G>A	uc001hce.3	-	6	1858	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	577					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAAGCCCCGTGAGGTTGTCCA	0.647000														64			29		0	0	0.007291	0	0
IL36G	56300	broad.mit.edu	37	2	113742458	113742458	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:113742458G>A	uc002tio.1	+	4	411	c.342G>A	c.(340-342)gtG>gtA	p.V114V	IL36G_uc010fkr.1_Silent_p.V79V	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	114					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.P113P(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCGAGCCCGTGAAACCCTTCC	0.512000														137			59		0	0	0.003610	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32918341	32918341	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:32918341G>A	uc003ocm.2	-	1	414	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	HLA-DMA_uc011dqm.1_Nonsense_Mutation_p.Q110*	NM_006120	NP_006111	Q31604	Q31604_HUMAN	Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.	110						MHC class II protein complex|integral to membrane				kidney(1)|large_intestine(2)|lung(8)	11						CCTATTTGCTGGATCATCCAC	0.522000														169			171		0	0	0.003610	0	0
GALNT2	2590	broad.mit.edu	37	1	230381829	230381829	+	Silent	SNP	A	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:230381829A>G	uc010pwa.1	+	7	822	c.750A>G	c.(748-750)tcA>tcG	p.S250S	GALNT2_uc010pvy.1_Silent_p.S212S|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	250					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGGTTGTGTCACCCATCATCG	0.463000														105			35		0	0	0.002522	0	0
AXDND1	126859	broad.mit.edu	37	1	179363135	179363135	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:179363135G>A	uc001gmo.3	+	9	1348	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	AXDND1_uc001gmn.2_Missense_Mutation_p.E109K|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E279K	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	321										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GCGCATTTTAGAAGAATTGTA	0.378000														100			32		0	0	0.002096	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032202	46032203	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:46032202_46032203CC>TT	uc002zfo.1	+	0	207_208	c.185_186CC>TT	c.(184-186)acc>aTT	p.T62I	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	62	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						AGCTGCTGTACCCCTAGCTGCT	0.673000														37			16		0	0	0.004672	0	0
CDHR3	222256	broad.mit.edu	37	7	105662830	105662830	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:105662830G>A	uc003vdl.4	+	13	2120	c.2012G>A	c.(2011-2013)gGa>gAa	p.G671E	CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Missense_Mutation_p.G658E|CDHR3_uc011klt.2_Missense_Mutation_p.G583E|CDHR3_uc003vdn.3_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	671	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GTTGAGACAGGAACAGTGACA	0.488000														130			56		0	0	0.003610	0	0
INSRR	3645	broad.mit.edu	37	1	156816462	156816462	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:156816462G>A	uc010pht.2	-	7	1958	c.1659C>T	c.(1657-1659)agC>agT	p.S553S	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	553	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGGGTGCGGCTTAGGGGCA	0.612000														51			22		0	0	0.001882	0	0
GPR124	25960	broad.mit.edu	37	8	37691640	37691640	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:37691640C>T	uc003xkj.3	+	10	1988	c.1602C>T	c.(1600-1602)atC>atT	p.I534I	GPR124_uc010lvy.3_Silent_p.I534I	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	534					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCAGCACATCTCAGTGGTAA	0.697000														36			12		0	0	0.001855	0	0
CCDC146	57639	broad.mit.edu	37	7	76924064	76924064	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:76924064G>A	uc003uga.3	+	18	2876	c.2749G>A	c.(2749-2751)Gca>Aca	p.A917T	CCDC146_uc010ldp.3_Missense_Mutation_p.A631T|CCDC146_uc003ugc.3_Missense_Mutation_p.A254T	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	917										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CATCCCAGAAGCAGATGCCAC	0.468000														51			12		0	0	0.001855	0	0
OR2G2	81470	broad.mit.edu	37	1	247752184	247752184	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:247752184C>T	uc010pyy.2	+	0	523	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R175C(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGTGGGCATCGCCAAGTGGA	0.557000														135			41		0	0	0.006230	0	0
NDUFB4	4710	broad.mit.edu	37	3	120315215	120315215	+	Silent	SNP	C	T	T	rs139409401	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:120315215C>T	uc003edu.3	+	0	88	c.9C>T	c.(7-9)ttC>ttT	p.F3F	NDUFB4_uc003edt.3_Silent_p.F3F	NM_004547	NP_004538	O95168	NDUB4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa (NDUFB4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	3					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	AGATGTCGTTCCCAAAGTATA	0.597000														26			8		0	0	0.000978	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097035	69097035	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:69097035G>A	uc003hdw.4	-	6	708	c.572C>T	c.(571-573)tCc>tTc	p.S191F		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	191	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CCCCTCCAGGGAGCTTTTTCC	0.493000														47			28		0	0	0.008361	0	0
RGS9	8787	broad.mit.edu	37	17	63206615	63206616	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:63206615_63206616CC>TT	uc002jfe.3	+	16	1502_1503	c.1299_1300CC>TT	c.(1297-1302)ctccct>ctTTct	p.P434S	RGS9_uc021ubw.1_Missense_Mutation_p.P431S|RGS9_uc010dem.3_Missense_Mutation_p.P431S|RGS9_uc002jfd.3_Missense_Mutation_p.P431S|RGS9_uc002jfg.3_Missense_Mutation_p.P205S	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	434					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCTCCACCCTCCCTTTTATGCG	0.574000														93			28		0	0	0.004672	0	0
ARSH	347527	broad.mit.edu	37	X	2951252	2951252	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:2951252C>T	uc011mhj.2	+	8	1515	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	505						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TATTTGACTCCGTGATCAAAA	0.488000														7			13		0	0	0.001855	0	0
EEF2K	29904	broad.mit.edu	37	16	22269960	22269960	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:22269960C>T	uc002dki.3	+	9	1660	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	392					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ACCTTCGACTCTCTCCCTTCT	0.597000														68			17		0	0	0.006122	0	0
LRR1	122769	broad.mit.edu	37	14	50074628	50074628	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:50074628C>T	uc001wwn.3	+	2	1117	c.793C>T	c.(793-795)Cct>Tct	p.P265S	NEMF_uc010anj.1_Intron|LRR1_uc010ank.3_Missense_Mutation_p.P206S|LRR1_uc001wwp.3_Non-coding_Transcript|LRR1_uc001wwo.3_Intron	NM_152329	NP_689542	Q96L50	LLR1_HUMAN	Homo sapiens leucine rich repeat protein 1 (LRR1), transcript variant 1, mRNA.	265										kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GATTCAATTTCCTTGCAAGAT	0.373000														43			16		0	0	0.003163	0	0
HYDIN	54768	broad.mit.edu	37	16	70989289	70989289	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:70989289C>T	uc002ezr.3	-	39	6453	c.6302G>A	c.(6301-6303)gGa>gAa	p.G2101E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2102										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCCTCCTCTCCTTCCTTCAC	0.567000														55			13		0	0	0.004007	0	0
MYH9	4627	broad.mit.edu	37	22	36681727	36681727	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:36681727G>A	uc003apg.3	-	36	5482	c.5251C>T	c.(5251-5253)Cgg>Tgg	p.R1751W		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1751					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTCTTCAGCCGGTCGTTGATC	0.667000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					35			12		0	0	0.001368	0	0
NMBR	4829	broad.mit.edu	37	6	142399800	142399800	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:142399800G>A	uc003qiu.3	-	1	804	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	221					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GTGGTATGAGGAAATAGACCA	0.353000														47			28		0	0	0.004656	0	0
MARCH1	55016	broad.mit.edu	37	4	164534484	164534484	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:164534484G>A	uc003iqs.2	-	4	406	c.224C>T	c.(223-225)tCc>tTc	p.S75F	MARCH1_uc003iqr.2_Missense_Mutation_p.S58F	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	75					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTCCTGAGTGGATGGACAGAC	0.423000														70			29		0	0	0.003271	0	0
CELSR1	9620	broad.mit.edu	37	22	46930151	46930151	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:46930151G>A	uc003bhw.1	-	0	2917	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	973	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGACTGCCCCGATCCACAGCC	0.582000														76			37		0	0	0.007835	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996195	143996195	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:143996195C>T	uc003yxk.1	-	3	728	c.725G>A	c.(724-726)aGg>aAg	p.R242K		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	242					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGACAGGCTCCTGGGCATGAA	0.612000									Familial Hyperaldosteronism type I					28			6		0	0	0.001168	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891276	18891277	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:18891276_18891277GG>AA	uc001rdy.3	+	0	232_233	c.74_75GG>AA	c.(73-75)ggg>gAA	p.G25E	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	25					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCCCCTCCAGGGGAATTTGTAA	0.460000														83			36		0	0	0.004672	0	0
C12orf74	338809	broad.mit.edu	37	12	93100576	93100576	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:93100576C>T	uc001tch.2	+	1	620	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	C12orf74_uc001tci.3_Missense_Mutation_p.R57C|C12orf74_uc021rbt.1_Missense_Mutation_p.R57C	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	57										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						ATTAAGGACCCGTGGCTGTGG	0.622000														67			31		0	0	0.002445	0	0
TTN	7273	broad.mit.edu	37	2	179417166	179417166	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:179417166G>A	uc021vsy.1	-	283	82982	c.82757C>T	c.(82756-82758)cCt>cTt	p.P27586L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P21281L|TTN_uc021vta.1_Missense_Mutation_p.P21214L|TTN_uc021vtb.1_Missense_Mutation_p.P21089L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28513	Fibronectin type-III 100.						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)			TCCCTTATAAGGTAATTCAAG	0.403000														28			19		0	0	0.008871	0	0
MAML2	84441	broad.mit.edu	37	11	95712443	95712443	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:95712443A>G	uc001pfw.1	-	4	4425	c.3140T>C	c.(3139-3141)cTg>cCg	p.L1047P		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	1047					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCTGAGATTCAGACCCCTGAG	0.498000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid									37			15		0	0	0.004007	0	0
WIF1	11197	broad.mit.edu	37	12	65460471	65460471	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:65460471G>A	uc001ssk.3	-	5	1055	c.680C>T	c.(679-681)cCt>cTt	p.P227L		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	227	EGF-like 2.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GCAGAAACCAGGAGTCACACA	0.408000			T	HMGA2	pleomorphic salivary gland adenoma									46			12		0	0	0.001368	0	0
SI	6476	broad.mit.edu	37	3	164714367	164714367	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:164714367C>T	uc003fei.3	-	39	4711	c.4648G>A	c.(4648-4650)Gca>Aca	p.A1550T		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1550	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)	GGATAAAATGCTCCAAGTTGC	0.328000										HNSCC(35;0.089)				54			12		0	0	0.001368	0	0
CNR1	1268	broad.mit.edu	37	6	88854075	88854075	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:88854075G>A	uc010kbz.3	-	1	1049	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	CNR1_uc011dzr.2_Missense_Mutation_p.R307C|CNR1_uc011dzs.2_Missense_Mutation_p.R307C|CNR1_uc003pmq.4_Missense_Mutation_p.R307C|CNR1_uc011dzt.2_Missense_Mutation_p.R307C|CNR1_uc010kca.3_Missense_Mutation_p.R274C|CNR1_uc021zco.1_Missense_Mutation_p.R307C	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	307					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.R307C(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGAATCATGCGGACGGCGTGG	0.547000														31			26		0	0	0.005443	0	0
ATAD1	84896	broad.mit.edu	37	10	89527456	89527456	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:89527456G>A	uc001kez.1	-	7	1184	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	ATAD1_uc010qmr.1_Silent_p.L181L|ATAD1_uc009xth.1_Non-coding_Transcript|ATAD1_uc001key.1_Silent_p.L269L	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN	Homo sapiens ATPase family, AAA domain containing 1 (ATAD1), mRNA.	269						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		ATGAGTTTCAGGATTGCTTCT	0.259000														100			20		0	0	0.006320	0	0
ITGA1	3672	broad.mit.edu	37	5	52214623	52214623	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:52214623C>T	uc003jou.3	+	15	2464	c.2050C>T	c.(2050-2052)Caa>Taa	p.Q684*	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Nonsense_Mutation_p.Q215*	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	684					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGTGAATATTCAAAAGAAAAA	0.348000														43			7		0	0	0.004482	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984425	41984425	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:41984425C>T	uc003gwk.2	+	0	713	c.616C>T	c.(616-618)Cag>Tag	p.Q206*		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	206										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						AGGCTTGTCTCAGCAGGTCCT	0.577000														128			45		0	0	0.002852	0	0
TSPAN2	10100	broad.mit.edu	37	1	115615589	115615589	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:115615589G>A	uc001eft.3	-	1	177	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	TSPAN2_uc021osc.1_Missense_Mutation_p.R37W	NM_005725	NP_005716	O60636	TSN2_HUMAN	Homo sapiens tetraspanin 2 (TSPAN2), mRNA.	37						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CCTCCGAACCGAAACCATAGT	0.507000														57			13		0	0	0.001855	0	0
MMP25	64386	broad.mit.edu	37	16	3108256	3108256	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:3108256G>A	uc002cth.3	+	7	1318	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	BC045731_uc002ctj.1_Intron	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	361	Hemopexin-like 1.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CCGCTTCTGGGAGGGGCTGCC	0.726000														36			14		0	0	0.004007	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147478	26147478	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:26147478G>A	uc002dof.3	+	1	1672	c.1280G>A	c.(1279-1281)aGa>aAa	p.R427K		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	427					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GTCATCCACAGACTGAGGAAA	0.473000														20			12		0	0	0.000978	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933703	62933703	+	Silent	SNP	G	A	A	rs138188942		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:62933703G>A	uc001nwr.1	-	6	1098	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_3'UTR	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	366					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GCAAAGTAAGGCCCCAAAAAG	0.448000														31			24		0	0	0.003954	0	0
USH2A	7399	broad.mit.edu	37	1	216462695	216462695	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:216462695G>A	uc001hku.1	-	10	2285	c.1898C>T	c.(1897-1899)tCg>tTg	p.S633L	USH2A_uc001hkv.3_Missense_Mutation_p.S633L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	633	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCTATGGCCGAAGGATCTGC	0.408000										HNSCC(13;0.011)				58			25		0	0	0.004656	0	0
OR51V1	283111	broad.mit.edu	37	11	5221142	5221142	+	Silent	SNP	A	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5221142A>G	uc010qyz.2	-	0	789	c.789T>C	c.(787-789)ccT>ccC	p.P263P		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P263H(2)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTAATGATAGGGATGTAGA	0.478000														69			13		0	0	0.001368	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45459020	45459020	+	RNA	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:45459020C>T	uc001rol.3	-	0		c.175G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TTAAAGAAATCCTCAAAGTCC	0.448000														19			10		0	0	0.006214	0	0
SLC25A17	10478	broad.mit.edu	37	22	41173251	41173251	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:41173251A>T	uc003azc.3	-	5	718	c.578T>A	c.(577-579)cTt>cAt	p.L193H	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_Missense_Mutation_p.L156H|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Missense_Mutation_p.L120H	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	193					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TTTCTTTAAAAGCTGCCGTTT	0.383000														29			8		0	0	0.004482	0	0
SGMS1	259230	broad.mit.edu	37	10	52086980	52086980	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:52086980G>A	uc001jje.3	-	7	1680	c.726C>T	c.(724-726)ttC>ttT	p.F242F	SGMS1_uc010qhk.2_Silent_p.F73F|SGMS1_uc009xot.1_Non-coding_Transcript|SGMS1_uc021pqq.1_Silent_p.F242F|SGMS1_uc021pqr.1_Non-coding_Transcript|SGMS1_uc021pqn.1_Intron|SGMS1_uc021pqo.1_Intron|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	248					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GAGAACAGTTGAAATGCATAC	0.423000														43			11		0	0	0.000978	0	0
PDZD8	118987	broad.mit.edu	37	10	119049715	119049715	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:119049715G>A	uc001lde.1	-	3	1442	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	415	PDZ.				intracellular signal transduction		metal ion binding	p.R415*(2)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GCGATAAGTCGATCTCCCCGC	0.428000														69			25		0	0	0.004656	0	0
TRRAP	8295	broad.mit.edu	37	7	98509802	98509802	+	Missense_Mutation	SNP	C	T	T	rs147405090		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:98509802C>T	uc003upp.3	+	17	2374	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F	TRRAP_uc011kis.2_Missense_Mutation_p.S722F|TRRAP_uc003upr.3_Missense_Mutation_p.S414F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	722					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.S722F(15)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTCTGTCTCCCTCTTTGCA	0.463000														84			39		0	0	0.007835	0	0
OR52L1	338751	broad.mit.edu	37	11	6007836	6007836	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:6007836C>T	uc001mcd.2	-	0	380	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E94K(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCCAATCTCGTGGGCATGA	0.537000														16			9		0	0	0.008291	0	0
CSF2RA	1438	broad.mit.edu	37	X	1422865	1422865	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:1422865C>T	uc010nct.2	+	11	1318	c.996C>T	c.(994-996)atC>atT	p.I332I	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.I332I|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Silent_p.I332I|CSF2RA_uc004cpo.2_Silent_p.I332I|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Silent_p.I199I|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Silent_p.I366I|CSF2RA_uc004cpr.2_Intron	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	332						extracellular region|integral to plasma membrane	cytokine receptor activity	p.I332I(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGCTCCTAATCGTGGGAACCC	0.547000														319			160		0	0	0.003610	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21446932	21446932	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:21446932G>A	uc001rer.3	-	9	1635	c.1384C>T	c.(1384-1386)Ctg>Ttg	p.L462L	SLCO1A2_uc010siq.2_Silent_p.L330L|SLCO1A2_uc001res.3_Silent_p.L462L|SLCO1A2_uc010sio.2_Silent_p.L330L|SLCO1A2_uc010sip.2_Silent_p.L330L|SLCO1A2_uc001ret.3_Silent_p.L460L	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	462	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.L462L(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CAAGCTGACAGATATGACAAG	0.388000														22			11		0	0	0.001855	0	0
OR52N4	390072	broad.mit.edu	37	11	5776576	5776576	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5776576G>A	uc001mbu.3	+	0	654	c.606G>A	c.(604-606)ctG>ctA	p.L202L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TCTATGGTCTGATGGTTGCCC	0.493000														78			15		0	0	0.004007	0	0
PCNT	5116	broad.mit.edu	37	21	47831639	47831639	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:47831639G>A	uc002zji.4	+	27	5759	c.5652G>A	c.(5650-5652)aaG>aaA	p.K1884K	PCNT_uc002zjj.3_Silent_p.K1766K	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1884					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCAGCGGAAGGCGGCCCACT	0.667000														38			9		0	0	0.004482	0	0
CD5L	922	broad.mit.edu	37	1	157809178	157809178	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:157809178G>A	uc001frk.4	-	1	194	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	17					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTTACCTAGGAATCCAGGTC	0.443000														85			31		0	0	0.006230	0	0
CLCN1	1180	broad.mit.edu	37	7	143048886	143048886	+	Missense_Mutation	SNP	C	T	T	rs80356706	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:143048886C>T	uc003wcr.1	+	22	2882	c.2795C>T	c.(2794-2796)cCa>cTa	p.P932L	CLCN1_uc011ktc.1_Missense_Mutation_p.P544L	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	932					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACCCCTGTGCCATCTCCTTCC	0.637000														35			8		0	0	0.004482	0	0
LGALS9B	284194	broad.mit.edu	37	17	20361578	20361578	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:20361578G>A	uc002gxa.1	-	2	316	c.251C>T	c.(250-252)cCc>cTc	p.P84L	LGALS9B_uc002gwz.1_Missense_Mutation_p.P84L|LGALS9B_uc010vzh.1_5'UTR	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	84	Beta-galactoside binding 1 (By similarity).|Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CCTCTCCTCGGGCCCCCATCT	0.552000														69			36		0	0	0.006999	0	0
SGMS1	259230	broad.mit.edu	37	10	52103795	52103795	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:52103795G>A	uc001jje.3	-	6	1034	c.80C>T	c.(79-81)cCt>cTt	p.P27L	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.P27L|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.P27L|SGMS1_uc021pqo.1_Missense_Mutation_p.P27L|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	33	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ATGCTCCAGAGGCTCACAGTA	0.522000														71			27		0	0	0.003954	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149274	73149274	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:73149274G>A	uc003hgk.2	-	21	3234	c.3197C>T	c.(3196-3198)gCt>gTt	p.A1066V		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	1066					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			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)			ATGAGTTTCAGCAGCTTCTAG	0.473000														93			51		0	0	0.003610	0	0
FAM129A	116496	broad.mit.edu	37	1	184765070	184765071	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:184765070_184765071CC>TT	uc001gra.3	-	13	2021_2022	c.1827_1828GG>AA	c.(1825-1830)ctgggt>ctAAgt	p.G610S	FAM129A_uc001grb.1_Missense_Mutation_p.G373S	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	610					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.L609L(2)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTCTCACTACCCAGAACTCCTG	0.550000														102			32		0	0	0.004672	0	0
FILIP1	27145	broad.mit.edu	37	6	76063410	76063410	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:76063410C>T	uc010kbe.3	-	4	1013	c.483G>A	c.(481-483)caG>caA	p.Q161Q	FILIP1_uc003phy.1_Silent_p.Q158Q|FILIP1_uc003phz.3_Silent_p.Q59Q|FILIP1_uc003pia.3_Silent_p.Q158Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	158										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGGTTTCTTTCTGTTTTTCCT	0.438000														61			55		0	0	0.003610	0	0
PGK2	5232	broad.mit.edu	37	6	49753703	49753703	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:49753703G>A	uc003ozu.3	-	0	1351	c.1198C>T	c.(1198-1200)Cta>Tta	p.L400L		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	400					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGAAGCTCTAGACTGGCACCG	0.478000														96			43		0	0	0.002522	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768484	77768484	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:77768484C>T	uc003yau.2	+	9	9714	c.9327C>T	c.(9325-9327)ctC>ctT	p.L3109L	ZFHX4_uc003yaw.1_Silent_p.L3064L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3064	Pro-rich.					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)			CAGTCCTTCTCCCCGGAATGA	0.527000										HNSCC(33;0.089)				38			19		0	0	0.008871	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236503	140236503	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140236503G>A	uc003lhx.2	+	0	870	c.870G>A	c.(868-870)agG>agA	p.R290R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.R290R|PCDHAC2_uc011dad.2_Silent_p.R290R	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	306	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATAAGAAGGAAATTTTGGA	0.353000														45			20		0	0	0.001523	0	0
HPSE	10855	broad.mit.edu	37	4	84230557	84230557	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:84230557G>A	uc003hoj.4	-	6	1081	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	HPSE_uc003hoi.3_Nonsense_Mutation_p.Q270*|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Nonsense_Mutation_p.Q71*|HPSE_uc003hok.4_Nonsense_Mutation_p.Q328*|HPSE_uc011cct.2_Nonsense_Mutation_p.Q328*	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	328					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	ACTATTACCTGGAAAACTTTT	0.289000														38			6		0	0	0.001984	0	0
P2RX5	5026	broad.mit.edu	37	17	3594945	3594945	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:3594945G>A	uc002fwi.3	-	1	680	c.281C>T	c.(280-282)cCa>cTa	p.P94L	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.P58L|P2RX5_uc002fwk.3_Missense_Mutation_p.P94L|P2RX5_uc002fwj.3_Missense_Mutation_p.P94L|P2RX5_uc002fwl.3_Missense_Mutation_p.P94L|P2RX5_uc002fwm.2_Missense_Mutation_p.P94L	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	94					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GACCTGGGCTGGAATGACGTA	0.617000														48			27		0	0	0.006320	0	0
ERAP2	64167	broad.mit.edu	37	5	96215612	96215612	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:96215612C>T	uc003kmq.3	+	1	933	c.223C>T	c.(223-225)Cct>Tct	p.P75S	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.P75S|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.P69S|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	75					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TGTGGTCATTCCTCTCCATTA	0.488000														37			7		0	0	0.003080	0	0
EIF3L	51386	broad.mit.edu	37	22	38273723	38273723	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:38273723G>A	uc003auf.3	+	10	1198	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	EIF3L_uc011ann.2_Missense_Mutation_p.A326T|EIF3L_uc003aug.3_Missense_Mutation_p.A266T	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	374						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCTGGCCATTGCCCTCACGAT	0.542000														93			34		0	0	0.005524	0	0
GRM7	2917	broad.mit.edu	37	3	7348256	7348256	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:7348256G>A	uc003bqm.2	+	3	1224	c.950G>A	c.(949-951)gGa>gAa	p.G317E	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G317E|GRM7_uc003bql.2_Missense_Mutation_p.G317E|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	317					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GACAGCTGGGGATCCAAAATA	0.493000														77			30		0	0	0.002445	0	0
MAFK	7975	broad.mit.edu	37	7	1579891	1579891	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:1579891C>T	uc003skr.3	+	2	562	c.351C>T	c.(349-351)ttC>ttT	p.F117F	MAFK_uc003sks.1_Non-coding_Transcript	NM_002360	NP_002351	O60675	MAFK_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian) (MAFK), mRNA.	117					blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)		TGCAGACCTTCGCGCGCACCG	0.677000														15			8		0	0	0.004482	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747383	62747383	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:62747383C>T	uc001nwk.3	-	6	1408	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	SLC22A6_uc001nwl.3_Missense_Mutation_p.D359N|SLC22A6_uc001nwj.3_Missense_Mutation_p.D359N|SLC22A6_uc001nwm.3_Missense_Mutation_p.D359N	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	359					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCTGCAGGTCCATGACCAGC	0.507000														48			9		0	0	0.001368	0	0
NIPAL2	79815	broad.mit.edu	37	8	99208229	99208229	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:99208229G>A	uc003yim.1	-	8	1141	c.885C>T	c.(883-885)atC>atT	p.I295I	NIPAL2_uc011lgw.1_Silent_p.I91I|NIPAL2_uc003yil.1_Silent_p.I295I			Q9H841	NPAL2_HUMAN	Homo sapiens NIPA-like domain containing 2 (NIPAL2), mRNA.	295						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GATAAAATATGATACCTGTAA	0.269000														26			13		0	0	0.001855	0	0
CBLC	23624	broad.mit.edu	37	19	45281419	45281419	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:45281419G>A	uc002ozs.3	+	0	294	c.231G>A	c.(229-231)ggG>ggA	p.G77G	CBLC_uc010ejt.3_Silent_p.G77G	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	77	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				gcggcTCTGGGGACTTTCTAC	0.716000			M		AML									74			69		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82784281	82784281	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:82784281C>T	uc003uhx.2	-	1	1965	c.1676G>A	c.(1675-1677)aGc>aAc	p.S559N	PCLO_uc003uhv.2_Missense_Mutation_p.S559N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	505	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCTGTTTGGCTTACTGGTTT	0.517000														341			149		0	0	0.003610	0	0
P2RX7	5027	broad.mit.edu	37	12	121614989	121614989	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:121614989G>A	uc001tzm.3	+	9	1164	c.1012G>A	c.(1012-1014)Ggc>Agc	p.G338S	P2RX7_uc001tzn.3_Missense_Mutation_p.G248S|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_Missense_Mutation_p.G49S|P2RX7_uc001tzq.3_Missense_Mutation_p.G168S	NM_002562	NP_002553	A8K2Z0	A8K2Z0_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.	338						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTGTACATCGGCTCAACCCT	0.443000														512			192		0	0	0.003610	0	0
AOX1	316	broad.mit.edu	37	2	201467038	201467038	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:201467038C>T	uc002uvx.3	+	5	569	c.468C>T	c.(466-468)ccC>ccT	p.P156P		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	156					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GATACAGGCCCATAATTGATG	0.453000														117			45		0	0	0.003610	0	0
CHERP	10523	broad.mit.edu	37	19	16643489	16643489	+	Silent	SNP	C	T	T	rs1043447		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:16643489C>T	uc002nei.1	-	4	668	c.594G>A	c.(592-594)cgG>cgA	p.R198R	MED26_uc002nee.2_Intron|CHERP_uc002nej.3_Silent_p.R166R	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	198	CID.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TGATGCGGTTCCGGAGGTGGC	0.627000														34			25		0	0	0.002096	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066197	70066197	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:70066197C>T	uc003heh.3	-	5	1560	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	AK124272_uc003hei.1_Non-coding_Transcript	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	517					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAGCAAACTTCCAGAAACAAA	0.403000														64			25		0	0	0.006320	0	0
AJAP1	55966	broad.mit.edu	37	1	4772197	4772197	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:4772197C>T	uc001alm.1	+	1	648	c.267C>T	c.(265-267)atC>atT	p.I89I	AJAP1_uc001aln.3_Silent_p.I89I	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	89					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TGGAGCGGATCCACGGGCAGA	0.761000														15			6		0	0	0.001168	0	0
ARMC4	55130	broad.mit.edu	37	10	28276346	28276346	+	Silent	SNP	C	T	T	rs146041171		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:28276346C>T	uc009xky.3	-	2	449	c.351G>A	c.(349-351)ggG>ggA	p.G117G	ARMC4_uc001itz.3_Silent_p.G117G	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	117							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCTTCAACTTCCCAGTTTTGG	0.413000														50			14		0	0	0.004990	0	0
MLL3	58508	broad.mit.edu	37	7	151835979	151835979	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:151835979G>A	uc003wla.3	-	57	14764	c.14545C>T	c.(14545-14547)Cat>Tat	p.H4849Y	MLL3_uc003wkz.3_Missense_Mutation_p.H3963Y|MLL3_uc003wkx.3_Missense_Mutation_p.H1007Y|MLL3_uc003wky.3_Missense_Mutation_p.H2409Y	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4849	S-adenosyl-L-methionine binding (By similarity).|SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.N4848S(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCACACGAATGGTTGATATAC	0.403000			N		medulloblastoma									101			34		0	0	0.004289	0	0
SPRR1B	6699	broad.mit.edu	37	1	153004903	153004903	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:153004903C>T	uc001fba.3	+	1	146	c.82C>T	c.(82-84)Cca>Tca	p.P28S	SPRR1B_uc021ozp.1_Missense_Mutation_p.P28S	NM_003125	NP_003116	P22528	SPR1B_HUMAN	Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA.	28	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGCCAGCCTCCACCTCAGGA	0.627000														140			40		0	0	0.003214	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566350	129566350	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:129566350C>T	uc009zyl.1	-	6	2205	c.1877G>A	c.(1876-1878)gGc>gAc	p.G626D	TMEM132D_uc001uia.2_Missense_Mutation_p.G164D	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	626						integral to membrane		p.Q625K(1)		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)		GATCTGTCCGCCTTGCAGCTT	0.522000														42			27		0	0	0.001786	0	0
CDH18	1016	broad.mit.edu	37	5	19747341	19747341	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:19747341T>G	uc003jgd.3	-	3	767	c.233A>C	c.(232-234)cAc>cCc	p.H78P	CDH18_uc011cnm.2_Missense_Mutation_p.H78P|CDH18_uc003jgc.3_Missense_Mutation_p.H78P|CDH18_uc021xwu.1_Missense_Mutation_p.H78P	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	78	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGAATTGGAGTGCAGCTGTGA	0.383000														37			19		0	0	0.007413	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964660	94964660	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:94964660G>A	uc001ydj.3	-	2	871	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	25					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TCCTTGGTGAGAAGCTCGGCT	0.478000														136			69		0	0	0.003610	0	0
ADH1A	124	broad.mit.edu	37	4	100203727	100203727	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:100203727C>T	uc003hur.2	-	5	718	c.604G>A	c.(604-606)Gga>Aga	p.G202R	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	202					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCGACCCCTCCCAGGCCAAAC	0.458000														185			69		0	0	0.003610	0	0
PCDH20	64881	broad.mit.edu	37	13	61986425	61986425	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:61986425C>G	uc001vid.4	-	1	2171	c.1807G>C	c.(1807-1809)Gaa>Caa	p.E603Q	PCDH20_uc010thj.2_Missense_Mutation_p.E603Q	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	576	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTGTACTTTTCTTTCTCTTCT	0.443000														80			31		0	0	0.007291	0	0
RAB35	11021	broad.mit.edu	37	12	120535014	120535014	+	Silent	SNP	A	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:120535014A>C	uc009zww.2	-	6	942	c.36T>G	c.(34-36)ggT>ggG	p.G12G	RAB35_uc001txm.2_3'UTR|RAB35_uc010szh.2_3'UTR			Q15286	RAB35_HUMAN	Homo sapiens RAB35, member RAS oncogene family (RAB35), transcript variant 1, mRNA.	0					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		TGGGGGAGGGACCGCAGTGCA	0.537000														70			28		0	0	0.002096	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279529	73279529	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:73279529G>A	uc003tzk.2	+	1	315	c.279G>A	c.(277-279)caG>caA	p.Q93Q	WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	93						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TGGTGCTACAGGGACCCAGGC	0.687000														40			24		0	0	0.002780	0	0
ECE1	1889	broad.mit.edu	37	1	21551784	21551784	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:21551784C>T	uc001bek.2	-	16	2074	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	ECE1_uc001bem.2_Missense_Mutation_p.E651K|ECE1_uc001bej.2_Missense_Mutation_p.E655K|ECE1_uc001bei.2_Missense_Mutation_p.E664K|ECE1_uc010odl.1_Missense_Mutation_p.E667K	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	667					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCGATGTTCTCCCCCAGGGTG	0.652000														50			25		0	0	0.005443	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142625	18142625	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:18142625C>T	uc021wbb.1	+	4	1281	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	CSRP2BP_uc002wqk.3_Missense_Mutation_p.L154F|CSRP2BP_uc010zru.2_Missense_Mutation_p.L153F	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	282					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CGCTGGCTTTCTTGACAGGAG	0.473000														146			53		0	0	0.003610	0	0
DENND3	22898	broad.mit.edu	37	8	142161759	142161759	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:142161759C>T	uc003yvy.3	+	6	935	c.657C>T	c.(655-657)ttC>ttT	p.F219F	DENND3_uc010mep.3_Silent_p.F232F	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	219	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGTCTTCTTCTCCTCGGACT	0.542000														98			27		0	0	0.001786	0	0
DNAH2	146754	broad.mit.edu	37	17	7691218	7691218	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:7691218C>T	uc002giu.1	+	41	6658	c.6644C>T	c.(6643-6645)tCt>tTt	p.S2215F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2215	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAATGGCCTCTCCGGCCACT	0.527000														50			24		0	0	0.003330	0	0
PANX2	56666	broad.mit.edu	37	22	50615991	50615991	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:50615991G>A	uc003bjn.4	+	1	850	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	PANX2_uc003bjp.4_Missense_Mutation_p.V150M|PANX2_uc003bjo.4_Missense_Mutation_p.V284M	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	284					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GCTCCCGTCCGTGCAACTGCA	0.657000														47			10		0	0	0.008291	0	0
COL27A1	85301	broad.mit.edu	37	9	117014922	117014922	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:117014922C>T	uc011lxl.2	+	25	3083	c.3083C>T	c.(3082-3084)tCg>tTg	p.S1028L	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1028	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCCAAGGGGTCGATGGTAAGG	0.592000														70			63		0	0	0.003610	0	0
CLVS2	134829	broad.mit.edu	37	6	123369856	123369856	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:123369856G>A	uc003pzi.1	+	3	1523	c.654G>A	c.(652-654)ctG>ctA	p.L218L		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	218	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GGCCTTTCCTGAAGGAGAAAA	0.388000														86			64		0	0	0.003610	0	0
BCL6B	255877	broad.mit.edu	37	17	6928507	6928507	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:6928507C>T	uc010clt.1	+	4	939	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	BCL6B_uc002geg.2_Missense_Mutation_p.R293C	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	293						nucleus	zinc ion binding			skin(1)	1						TGAACGGGCTCGTCCACTACC	0.557000														141			38		0	0	0.003610	0	0
RASGRP1	10125	broad.mit.edu	37	15	38852064	38852064	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:38852064C>T	uc001zke.4	-	1	356	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	RASGRP1_uc001zkd.4_Missense_Mutation_p.A60T	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	60	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCCAGGCTGGCTCCTTTGGCT	0.502000														27			19		0	0	0.002780	0	0
RP1	6101	broad.mit.edu	37	8	55541974	55541974	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:55541974G>A	uc003xsd.1	+	3	5680	c.5532G>A	c.(5530-5532)aaG>aaA	p.K1844K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1844					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTGTGCCAAGGAAAGAATAG	0.408000														24			15		0	0	0.003163	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891529	18891529	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:18891529C>T	uc001rdy.3	+	0	485	c.327C>T	c.(325-327)atC>atT	p.I109I	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	109					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GTCATGGTATCATTCAGAATG	0.388000														37			21		0	0	0.001523	0	0
MYH13	8735	broad.mit.edu	37	17	10223547	10223547	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:10223547G>A	uc002gmk.1	-	25	3361	c.3271C>T	c.(3271-3273)Ctc>Ttc	p.L1091F	MYH13_uc010vve.1_3'UTR	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1091					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			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						AACTGACTGAGTTCAAACTCC	0.378000														14			8		0	0	0.006214	0	0
GPX6	257202	broad.mit.edu	37	6	28474188	28474188	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:28474188T>G	uc021yrx.1	-	2	310	c.260A>C	c.(259-261)gAg>gCg	p.E87A	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	87					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CTTCAGCTCCTCCTGTAGTGC	0.453000														82			17		0	0	0.004990	0	0
NOL10	79954	broad.mit.edu	37	2	10717816	10717816	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:10717816C>T	uc002raq.2	-	19	2018	c.1893G>A	c.(1891-1893)ttG>ttA	p.L631L	NOL10_uc010yje.1_Silent_p.L605L|NOL10_uc010yjf.1_Silent_p.L581L|NOL10_uc002rap.2_Silent_p.L581L	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	Homo sapiens nucleolar protein 10 (NOL10), mRNA.	631						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CGGATACACTCAATGTCCCAT	0.313000														23			9		0	0	0.002450	0	0
FAM124B	79843	broad.mit.edu	37	2	225266236	225266236	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:225266236G>A	uc002vnx.3	-	0	476	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	FAM124B_uc002vnw.3_Missense_Mutation_p.R84C	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	84							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TCCAGGACGCGAAATAGCCTA	0.547000														40			16		0	0	0.004007	0	0
EPPK1	83481	broad.mit.edu	37	8	144940357	144940357	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:144940357G>A	uc003zaa.1	-	0	7078	c.7065C>T	c.(7063-7065)caC>caT	p.H2355H		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2355						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGGCACGCGGTGGCTGTGCA	0.692000														406			22		0	0	0.008361	0	0
OR2M7	391196	broad.mit.edu	37	1	248487141	248487141	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:248487141G>A	uc010pzk.2	-	0	730	c.730C>T	c.(730-732)Cac>Tac	p.H244Y		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCATGAGGTGAGAGGAACAA	0.458000														154			53		0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141708471	141708471	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:141708471G>A	uc003vwy.3	+	2	347	c.293G>A	c.(292-294)cGa>cAa	p.R98Q		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	98	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R98Q(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAATTGGAACGAATTAATTGC	0.403000														59			19		0	0	0.003330	0	0
ABCC8	6833	broad.mit.edu	37	11	17418836	17418836	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:17418836C>T	uc001mnc.3	-	31	4018	c.3892G>A	c.(3892-3894)Gtg>Atg	p.V1298M		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1298	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGTTCCTCACCATCCAGTTG	0.587000														114			46		0	0	0.003610	0	0
MUC13	56667	broad.mit.edu	37	3	124646508	124646508	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:124646508C>T	uc003ehq.2	-	1	421	c.382G>A	c.(382-384)Gga>Aga	p.G128R		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	128	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTGATTAATCCATCATTTGGA	0.433000														137			62		0	0	0.003610	0	0
PDIA4	9601	broad.mit.edu	37	7	148701135	148701135	+	Silent	SNP	G	A	A	rs145077850	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:148701135G>A	uc003wff.2	-	9	1971	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	563	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGTTGTACACGGGCTCTAGCT	0.582000														103			45		0	0	0.003610	0	0
FLNB	2317	broad.mit.edu	37	3	58084616	58084616	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:58084616C>T	uc003djj.2	+	7	1491	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	FLNB_uc010hne.2_Silent_p.F442F|FLNB_uc003djk.2_Silent_p.F442F|FLNB_uc010hnf.2_Silent_p.F442F|FLNB_uc003djl.2_Silent_p.F273F|FLNB_uc003djm.2_Silent_p.F273F	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	442					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGAGTCCCTTCGTTGTGCAGG	0.547000														88			38		0	0	0.007835	0	0
DL492607	0	broad.mit.edu	37	11	113660223	113660223	+	RNA	SNP	A	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:113660223A>G	uc001pof.1	+	0		c.271A>G								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		GGCCAGGTGAAGAACCCCGGC	0.617000														25			4		0	0	0.001168	0	0
ALDH7A1	501	broad.mit.edu	37	5	125896808	125896808	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:125896808G>A	uc003ktx.3	-	9	1072	c.880C>T	c.(880-882)Ctg>Ttg	p.L294L	ALDH7A1_uc003ktv.3_5'UTR|ALDH7A1_uc011cxa.2_Silent_p.L321L	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	294					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	AGTTCCAACAGACTTCTCCCT	0.338000														54			27		0	0	0.004656	0	0
TJAP1	93643	broad.mit.edu	37	6	43472767	43472767	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:43472767C>A	uc003ovd.2	+	10	1224	c.848C>A	c.(847-849)cCc>cAc	p.P283H	TJAP1_uc003ovf.2_Missense_Mutation_p.P273H|TJAP1_uc003ove.2_Missense_Mutation_p.P273H|TJAP1_uc003ovc.2_Missense_Mutation_p.P273H|TJAP1_uc010jyp.2_Missense_Mutation_p.P242H|TJAP1_uc011dvh.1_Missense_Mutation_p.P273H|TJAP1_uc003ovg.2_Missense_Mutation_p.P149H|TJAP1_uc011dvi.1_Missense_Mutation_p.P283H|TJAP1_uc011dvj.2_Missense_Mutation_p.P83H|TJAP1_uc003ovi.2_Missense_Mutation_p.P149H	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	283	Pro-rich.					Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCTGGCAGCCCCACCCCACAA	0.662000														118			33		2.80507e-11	3.96307e-11	0.002445	1	0
CXorf57	55086	broad.mit.edu	37	X	105855709	105855710	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:105855709_105855710GG>AA	uc004emi.4	+	0	550_551	c.399_400GG>AA	c.(397-402)agggtc>agAAtc	p.V134I	CXorf57_uc004emj.4_Missense_Mutation_p.V134I|CXorf57_uc004emh.2_Missense_Mutation_p.V134I	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	134										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GAATTTCCAGGGTCTCATGTCT	0.441000														61			55		0	0	0.004672	0	0
ENPP6	133121	broad.mit.edu	37	4	185038147	185038147	+	Silent	SNP	C	T	T	rs144414378		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:185038147C>T	uc003iwc.3	-	4	859	c.717G>A	c.(715-717)tcG>tcA	p.S239S		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	239					lipid catabolic process	extracellular region|integral to membrane|plasma membrane		p.S239S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TTCCGTGATCCGAGAAAATAA	0.532000														49			23		0	0	0.002780	0	0
SLIT2	9353	broad.mit.edu	37	4	20533638	20533638	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:20533638G>A	uc003gpr.1	+	16	1849	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	SLIT2_uc003gps.1_Missense_Mutation_p.E541K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	549					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.L548F(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TACCGTGTTGGAAGCCACAGG	0.303000														45			12		0	0	0.001855	0	0
SLC22A3	6581	broad.mit.edu	37	6	160858233	160858233	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:160858233C>T	uc003qti.3	+	6	1305	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	426						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TCACTGCGTTCTTACCAGAAG	0.488000														60			36		0	0	0.003271	0	0
F5	2153	broad.mit.edu	37	1	169515828	169515828	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:169515828C>T	uc001ggg.1	-	10	1759	c.1614G>A	c.(1612-1614)agG>agA	p.R538R	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	538	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTCTGCTGCCCTCTGGAGGA	0.438000														69			28		0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	9070705	9070705	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:9070705G>A	uc002mkp.3	-	2	16945	c.16741C>T	c.(16741-16743)Ccc>Tcc	p.P5581S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5583	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTCCCAGGGAAGGATACCC	0.522000														98			72		0	0	0.003610	0	0
TRPM6	140803	broad.mit.edu	37	9	77353524	77353524	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:77353524G>A	uc004ajl.1	-	35	5813	c.5575C>T	c.(5575-5577)Ctg>Ttg	p.L1859L	TRPM6_uc004ajk.1_Silent_p.L1854L|TRPM6_uc022bib.1_Silent_p.L1854L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.L810L|TRPM6_uc010mpd.1_Silent_p.L692L|TRPM6_uc010mpe.1_Silent_p.L406L|TRPM6_uc004ajj.1_Silent_p.L815L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1859	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAACTTCCAGGAACCTGTTA	0.443000														25			10		0	0	0.008291	0	0
PHLDB2	90102	broad.mit.edu	37	3	111658439	111658439	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:111658439G>A	uc010hqa.3	+	6	2659	c.2248G>A	c.(2248-2250)Gaa>Aaa	p.E750K	PHLDB2_uc003dyc.3_Missense_Mutation_p.E734K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E707K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E750K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E707K|PHLDB2_uc003dyi.3_Missense_Mutation_p.E336K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	750						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.E707K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCTCCTGCGTGAAGTTGCTGA	0.393000														33			8		0	0	0.006214	0	0
HERC2	8924	broad.mit.edu	37	15	28391446	28391446	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:28391446C>T	uc001zbj.3	-	70	11051	c.10945G>A	c.(10945-10947)Gag>Aag	p.E3649K		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3649					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)		TGGCGCCTCTCTGTGGAGCAC	0.557000														55			22		0	0	0.002299	0	0
DNAH8	1769	broad.mit.edu	37	6	38980014	38980014	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:38980014G>A	uc021yzh.1	+	89	13504	c.13395G>A	c.(13393-13395)atG>atA	p.M4465I	DNAH8_uc003ooe.2_Missense_Mutation_p.M4248I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGATAAAGATGGGCCATCTTA	0.338000														35			25		0	0	0.005443	0	0
PPP6C	5537	broad.mit.edu	37	9	127912061	127912061	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:127912061G>A	uc010mwv.3	-	7	1141	c.920C>T	c.(919-921)tCg>tTg	p.S307L	PPP6C_uc004bpg.4_Missense_Mutation_p.S270L|PPP6C_uc010mww.3_Missense_Mutation_p.S248L|PPP6C_uc011lzr.2_Missense_Mutation_p.S123L	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	270					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.S270L(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GACCATGATCGAAGCAATATT	0.408000														18			19		0	0	0.006122	0	0
MKRN3	7681	broad.mit.edu	37	15	23811120	23811120	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:23811120C>T	uc001ywh.4	+	0	667	c.191C>T	c.(190-192)cCt>cTt	p.P64L	MKRN3_uc001ywi.3_Missense_Mutation_p.P64L|MKRN3_uc010ayi.1_Missense_Mutation_p.P64L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	64						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.P64L(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCTCCAGTCCCTGCCCACCTC	0.667000														51			17		0	0	0.006122	0	0
OR2A5	393046	broad.mit.edu	37	7	143747507	143747507	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:143747507C>T	uc011ktw.2	+	0	13	c.13C>T	c.(13-15)Cag>Tag	p.Q5*		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GACAAAAAATCAGACATGGGT	0.478000														90			32		0	0	0.002836	0	0
GNAS	2778	broad.mit.edu	37	20	57429248	57429248	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:57429248G>A	uc002xzw.3	+	0	1213	c.928G>A	c.(928-930)Gag>Aag	p.E310K	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACCCCCGTTCGAGATTGGCAG	0.672000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				27			12		0	0	0.003163	0	0
SDR9C7	121214	broad.mit.edu	37	12	57317656	57317656	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:57317656G>A	uc010sqw.2	-	3	1047	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.	301						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ACCGGCTTAGGATGAAATCTG	0.577000														74			17		0	0	0.004990	0	0
WNT7A	7476	broad.mit.edu	37	3	13860792	13860792	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:13860792G>A	uc003bye.1	-	3	1004	c.699C>T	c.(697-699)aaC>aaT	p.N233N		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	233					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GAACGGCCTCGTTGTACTTGT	0.612000														56			39		0	0	0.004878	0	0
OR4K14	122740	broad.mit.edu	37	14	20483095	20483095	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:20483095G>A	uc010tky.2	-	0	258	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GATCACTAAGGAAATCCCTGA	0.507000														38			19		0	0	0.008871	0	0
KIAA1841	84542	broad.mit.edu	37	2	61298824	61298824	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:61298824G>A	uc002saw.4	+	3	537	c.234G>A	c.(232-234)gaG>gaA	p.E78E	KIAA1841_uc002sax.4_5'UTR|KIAA1841_uc002say.3_Silent_p.E78E|KIAA1841_uc002sav.4_Silent_p.E78E	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	78								p.E78D(3)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CTGCTGGAGAGAGTCCTGTTG	0.393000														48			23		0	0	0.001882	0	0
MIR1283-2	100302205	broad.mit.edu	37	19	54261542	54261542	+	RNA	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:54261542C>T	uc021vax.1	+	0		c.57C>T								Homo sapiens microRNA 1283-2 (MIR1283-2), microRNA.																		GAAAAGAAATCGCTTCCCTTT	0.433000														38			28		0	0	0.006320	0	0
PMS1	5378	broad.mit.edu	37	2	190719571	190719571	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:190719571C>T	uc002urh.4	+	8	2102	c.1573C>T	c.(1573-1575)Cca>Tca	p.P525S	PMS1_uc010zga.1_Missense_Mutation_p.P486S|PMS1_uc010zgb.1_Missense_Mutation_p.P464S|PMS1_uc002urk.4_Missense_Mutation_p.P486S|PMS1_uc002uri.4_Missense_Mutation_p.P525S|PMS1_uc010zgc.2_Missense_Mutation_p.P349S|PMS1_uc010zgd.2_Missense_Mutation_p.P349S|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.P486S|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.P310S|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_Missense_Mutation_p.P193S	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	525					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AAAAAGTTTACCATGTAAAGT	0.299000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						47			14		0	0	0.006122	0	0
PLAGL2	5326	broad.mit.edu	37	20	30789889	30789889	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:30789889G>A	uc002wxn.2	-	1	310	c.93C>T	c.(91-93)ggC>ggT	p.G31G		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	31						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCGCCTCCCGGCCCCGAGGCC	0.572000														65			23		0	0	0.003954	0	0
ABCA13	154664	broad.mit.edu	37	7	48619965	48619965	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:48619965C>T	uc003toq.2	+	55	14524	c.14500C>T	c.(14500-14502)Cct>Tct	p.P4834S	ABCA13_uc010kys.1_Missense_Mutation_p.P1909S|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.P564S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4834	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCAGTGCATCCCTGAGGTAAA	0.532000														9			8		0	0	0.006214	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881884	228881884	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:228881884C>T	uc002vpq.2	-	6	3733	c.3686G>A	c.(3685-3687)cGa>cAa	p.R1229Q	SPHKAP_uc002vpp.2_Missense_Mutation_p.R1229Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1229Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1229						cytoplasm	protein binding	p.R1229Q(3)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACTGGGGATCGCAGAGAAGG	0.567000														71			33		0	0	0.002096	0	0
TERT	7015	broad.mit.edu	37	5	1280441	1280441	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:1280441C>T	uc003jcb.1	-	3	1840	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Silent_p.K594K|TERT_uc003jca.1_Silent_p.K594K|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Silent_p.K46K	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	594					DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCTGCACCCTCTTCAAGTGCT	0.632000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					39			7		0	0	0.001984	0	0
OR5P3	120066	broad.mit.edu	37	11	7847259	7847259	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:7847259C>T	uc010rbg.2	-	0	261	c.261G>A	c.(259-261)agG>agA	p.R87R		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTTTCTTTCCTTAGGAAGC	0.507000														67			15		0	0	0.003163	0	0
MCF2L	23263	broad.mit.edu	37	13	113715025	113715025	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:113715025C>T	uc001vsu.3	+	5	660	c.660_splice	c.e5+1	p.P220_splice	MCF2L_uc001vsq.3_Splice_Site_p.P220_splice|MCF2L_uc010tjr.2_Splice_Site_p.P163_splice|MCF2L_uc001vsr.3_Splice_Site_p.P167_splice|MCF2L_uc001vss.4_Splice_Site_p.P161_splice|MCF2L_uc010tjs.2_Splice_Site_p.P161_splice|MCF2L_uc001vst.1_Splice_Site_p.P125_splice	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	193	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				ATGAAGGTGCCGGTAAGTGCG	0.542000														64			4		0	0	0.000248	0	0
NOB1	28987	broad.mit.edu	37	16	69776383	69776383	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:69776383G>A	uc002exs.3	-	8	1107	c.1091C>T	c.(1090-1092)cCt>cTt	p.P364L		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	364						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GATGTAGTCAGGGGCGAACAC	0.612000														82			23		0	0	0.002780	0	0
CD163	9332	broad.mit.edu	37	12	7637841	7637841	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:7637841G>A	uc001qsz.3	-	10	2758	c.2630C>T	c.(2629-2631)cCt>cTt	p.P877L	CD163_uc001qta.3_Missense_Mutation_p.P877L|CD163_uc009zfw.2_Missense_Mutation_p.P910L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	877	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TAAAGATGCAGGGTTGATTTT	0.532000														81			41		0	0	0.002222	0	0
DSP	1832	broad.mit.edu	37	6	7569487	7569487	+	Silent	SNP	G	A	A	rs35820473	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:7569487G>A	uc003mxp.1	+	11	1767	c.1488G>A	c.(1486-1488)acG>acA	p.T496T	DSP_uc003mxq.1_Silent_p.T496T|DSP_uc021yle.1_Silent_p.T496T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	496	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGTACGTGACGGGCCCGGGAG	0.557000														130			37		0	0	0.004878	0	0
F13A1	2162	broad.mit.edu	37	6	6266812	6266812	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:6266812G>A	uc003mwv.3	-	3	673	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F	F13A1_uc011dib.2_Missense_Mutation_p.L121F	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	184					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGATTGAAGAGAATGTACGTG	0.458000														73			60		0	0	0.003610	0	0
TRIP10	9322	broad.mit.edu	37	19	6750053	6750053	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:6750053G>A	uc002mfs.3	+	11	1437	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L	TRIP10_uc010dux.2_Silent_p.L401L|TRIP10_uc002mfr.3_Silent_p.L401L|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	457	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TTGAACGGCTGAAATTGGAAG	0.587000														57			42		0	0	0.002852	0	0
WEE2	494551	broad.mit.edu	37	7	141424038	141424038	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:141424038G>A	uc003vwn.2	+	7	1590	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	395	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GTGGAAGAAGGAGATAGTCGC	0.368000														86			24		0	0	0.006320	0	0
NRXN2	9379	broad.mit.edu	37	11	64427939	64427939	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:64427939C>T	uc021qkw.1	-	10	2716	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	NRXN2_uc021qkx.1_Missense_Mutation_p.E721K|NRXN2_uc001oas.3_Missense_Mutation_p.E721K|NRXN2_uc001oaq.3_Missense_Mutation_p.E419K	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	752	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding	p.T751T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCCTCTGCCTCCGTGTGCATG	0.602000														19			13		0	0	0.001855	0	0
TG	7038	broad.mit.edu	37	8	133885333	133885333	+	Missense_Mutation	SNP	C	T	T	rs143578780		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:133885333C>T	uc003ytw.3	+	4	546	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	169	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AATAAGAAATCGTCGTCTTCT	0.443000														26			15		0	0	0.006122	0	0
RBBP6	5930	broad.mit.edu	37	16	24583080	24583080	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:24583080C>T	uc002dmh.3	+	17	5733	c.4693C>T	c.(4693-4695)Cct>Tct	p.P1565S	RBBP6_uc002dmi.3_Missense_Mutation_p.P1531S|RBBP6_uc010bxr.3_Missense_Mutation_p.P725S|RBBP6_uc002dmk.3_Missense_Mutation_p.P1398S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1565					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGATAAAAATCCTTGTAAGGA	0.368000														37			9		0	0	0.006214	0	0
TTLL7	79739	broad.mit.edu	37	1	84403605	84403605	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:84403605G>C	uc001djc.3	-	7	1214	c.818C>G	c.(817-819)tCc>tGc	p.S273C	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	273	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CCATTTGATGGAACGTTTGCT	0.368000														103			26		0	0	0.005443	0	0
PEG3	5178	broad.mit.edu	37	19	57327691	57327691	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:57327691G>A	uc002qnu.2	-	6	2470	c.2119C>T	c.(2119-2121)Cat>Tat	p.H707Y	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H678Y|PEG3_uc002qnv.2_Missense_Mutation_p.H707Y|PEG3_uc002qnw.2_Missense_Mutation_p.H583Y|PEG3_uc002qnx.2_Missense_Mutation_p.H581Y|PEG3_uc010etr.2_Missense_Mutation_p.H707Y	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	707					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTCGAGAATGAATTTTCTGA	0.433000														29			32		0	0	0.001786	0	0
NPAS4	266743	broad.mit.edu	37	11	66189622	66189622	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:66189622C>T	uc001ohx.1	+	1	383	c.207C>T	c.(205-207)ctC>ctT	p.L69L	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	69					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CGGGGCTTCTCTCAGCTCAAG	0.582000											OREG0003368	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NPAS4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		41			18		0	0	0.007413	0	0
MYO18A	399687	broad.mit.edu	37	17	27448924	27448924	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:27448924A>C	uc002hdt.1	-	3	1297	c.1139T>G	c.(1138-1140)gTg>gGg	p.V380G	MYO18A_uc010wbc.1_5'Flank|MYO18A_uc002hds.2_5'UTR|MYO18A_uc010csa.1_Missense_Mutation_p.V380G|MYO18A_uc002hdu.1_Missense_Mutation_p.V380G|MYO18A_uc010wbd.1_Missense_Mutation_p.V49G	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	380					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTCCAGCTTCACACGCACCTT	0.612000														63			26		0	0	0.005443	0	0
CASP5	838	broad.mit.edu	37	11	104871020	104871020	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:104871020G>A	uc010ruz.1	-	5	991	c.959C>T	c.(958-960)cCc>cTc	p.P320L	CASP5_uc010rva.1_Missense_Mutation_p.P307L|CASP5_uc010rvb.1_Missense_Mutation_p.P249L|CASP5_uc010rvc.1_Missense_Mutation_p.P165L|CASP5_uc009yxh.2_Missense_Mutation_p.P89L|CASP5_uc010rvd.1_Missense_Mutation_p.P89L	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	307					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.P320R(1)|p.S320F(1)|p.P291R(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GATGACCTTGGGTTTGTCCTT	0.453000														123			48		0	0	0.003610	0	0
CCDC57	284001	broad.mit.edu	37	17	80121180	80121180	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:80121180C>T	uc002kdx.1	-	12	1973	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	CCDC57_uc010dik.1_Missense_Mutation_p.G154R|CCDC57_uc002kdz.1_Missense_Mutation_p.G646R	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	646										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			ACAGATCCTCCTGCTTGACCA	0.572000														56			39		0	0	0.005524	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110437354	110437354	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:110437354G>A	uc003yne.3	+	23	2842	c.2738G>A	c.(2737-2739)gGa>gAa	p.G913E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	913					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)			GTCTACAGAGGAAATAATTGG	0.338000										HNSCC(38;0.096)				22			8		0	0	0.004482	0	0
HDAC4	9759	broad.mit.edu	37	2	240024505	240024505	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:240024505T>A	uc002vyk.4	-	15	2977	c.2185A>T	c.(2185-2187)Aac>Tac	p.N729Y	HDAC4_uc010fyz.1_Missense_Mutation_p.N724Y|HDAC4_uc010zoa.1_Missense_Mutation_p.N729Y|HDAC4_uc010fza.2_Missense_Mutation_p.N734Y|HDAC4_uc010fyy.3_Missense_Mutation_p.N686Y|HDAC4_uc010znz.1_Missense_Mutation_p.N612Y	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	729	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TTCTGCCGGTTGAGGGGGTTC	0.562000														55			26		0	0	0.003330	0	0
FTH1	2495	broad.mit.edu	37	11	61732270	61732270	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:61732270C>T	uc001nsu.3	-	3	716	c.481G>A	c.(481-483)Gcg>Acg	p.A161T		NM_002032	NP_002023	P02794	FRIH_HUMAN	Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA.	161					cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GATTCGGGCGCTCCCATCTTG	0.498000														50			9		0	0	0.006214	0	0
VCX3A	51481	broad.mit.edu	37	X	6451786	6451786	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:6451786C>T	uc004crs.3	-	2	868	c.561G>A	c.(559-561)taG>taA	p.*187*	VCX3A_uc010ndk.2_Missense_Mutation_p.R127K|VCX3A_uc022bsg.1_Silent_p.*167*	NM_016379	NP_057463	Q9NNX9	VCX3_HUMAN	Homo sapiens variable charge, X-linked 3A (VCX3A), mRNA.	0					brain development	nucleolus				NS(1)|lung(2)|pancreas(1)	4						AGCTGGCCGTCTACACACTCG	0.582000														110			86		0	0	0.003610	0	0
FILIP1	27145	broad.mit.edu	37	6	76022244	76022244	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:76022244C>T	uc010kbe.3	-	5	3843	c.3313G>A	c.(3313-3315)Gag>Aag	p.E1105K	FILIP1_uc003phy.1_Missense_Mutation_p.E1102K|FILIP1_uc003phz.3_Missense_Mutation_p.E1003K|FILIP1_uc003pia.3_Missense_Mutation_p.E1102K|FILIP1_uc003pib.1_Missense_Mutation_p.E854K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	1102										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTGGAAACCTCCTTTTCGGCT	0.532000														102			88		0	0	0.003610	0	0
ALMS1	7840	broad.mit.edu	37	2	73784428	73784428	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:73784428T>G	uc002sje.1	+	13	10268	c.10157T>G	c.(10156-10158)gTg>gGg	p.V3386G	ALMS1_uc002sjf.1_Missense_Mutation_p.V3344G|ALMS1_uc002sjg.3_Missense_Mutation_p.V2774G|ALMS1_uc002sjh.1_Missense_Mutation_p.V2774G|ALMS1_uc010fev.1_Missense_Mutation_p.V146G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3386					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAAGGGCAGTGACTGAGGCT	0.423000														61			36		0	0	0.004289	0	0
CNTN1	1272	broad.mit.edu	37	12	41337963	41337963	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:41337963G>A	uc001rmm.1	+	13	1787	c.1674G>A	c.(1672-1674)agG>agA	p.R558R	CNTN1_uc009zjy.2_Silent_p.R558R|CNTN1_uc001rmn.1_Silent_p.R547R|CNTN1_uc001rmo.3_Silent_p.R558R	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	558	Ig-like C2-type 6.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.Q557P(1)		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)				ACTACCAGAGGAATTTTATGG	0.353000														52			10		0	0	0.000978	0	0
CEP95	90799	broad.mit.edu	37	17	62504805	62504805	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:62504805C>T	uc002jem.3	+	1	173	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F	CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_5'UTR|DDX5_uc010deh.2_5'Flank|DDX5_uc002jek.2_5'Flank|DDX5_uc002jej.2_5'Flank|DDX5_uc010wqa.1_5'Flank	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	Homo sapiens centrosomal protein 95kDa (CEP95), mRNA.	39						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TTTTATTGCTCTTTATCAGTC	0.338000														87			15		0	0	0.004990	0	0
CPXM2	119587	broad.mit.edu	37	10	125622149	125622149	+	Missense_Mutation	SNP	C	T	T	rs144190123	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:125622149C>T	uc001lhk.1	-	2	819	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	165	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GAGTCTCCCTCGATGTGCCCC	0.532000														29			9		0	0	0.001855	0	0
KIAA1009	22832	broad.mit.edu	37	6	84862679	84862679	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:84862679G>A	uc010kbp.3	-	22	3311	c.3214C>T	c.(3214-3216)Cag>Tag	p.Q1072*	KIAA1009_uc003pkj.4_Nonsense_Mutation_p.Q996*|KIAA1009_uc003pki.4_Nonsense_Mutation_p.Q458*	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	1072					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTATAGACTGAAAATCTTCA	0.363000														107			19		0	0	0.008871	0	0
GPR98	84059	broad.mit.edu	37	5	89979617	89979617	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:89979617G>A	uc003kju.3	+	27	5975	c.5879G>A	c.(5878-5880)gGa>gAa	p.G1960E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1960					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTTCTTTGGGAGCTCATATT	0.428000														29			14		0	0	0.002450	0	0
SPAG16	79582	broad.mit.edu	37	2	214794732	214794732	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:214794732G>A	uc002veq.3	+	11	1355	c.1263G>A	c.(1261-1263)tgG>tgA	p.W421*	SPAG16_uc010fuz.2_Nonsense_Mutation_p.W272*|SPAG16_uc002ver.3_Nonsense_Mutation_p.W367*|SPAG16_uc010zjk.2_Nonsense_Mutation_p.W327*	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	421					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTAAATTATGGGATCTATGTA	0.413000														75			21		0	0	0.003330	0	0
GPR56	9289	broad.mit.edu	37	16	57685239	57685239	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:57685239C>T	uc002emb.2	+	3	484	c.192C>T	c.(190-192)gcC>gcT	p.A64A	GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Silent_p.A64A|GPR56_uc002emf.2_Silent_p.A64A|GPR56_uc010vhs.1_Silent_p.A64A|GPR56_uc002emd.2_Silent_p.A64A|GPR56_uc002eme.2_Silent_p.A64A|GPR56_uc010vht.1_Silent_p.A69A|GPR56_uc002emg.3_Silent_p.A64A|GPR56_uc010vhu.1_5'UTR	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	64					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CCGAAGAGGCCCTCACAGTCC	0.602000														66			30		0	0	0.006320	0	0
SLC13A5	284111	broad.mit.edu	37	17	6606305	6606305	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:6606305G>T	uc002gdj.3	-	4	788	c.700C>A	c.(700-702)Ctg>Atg	p.L234M	SLC13A5_uc010clq.3_Missense_Mutation_p.L191M|SLC13A5_uc002gdk.3_Missense_Mutation_p.L217M|SLC13A5_uc010vtf.2_Missense_Mutation_p.L234M|SLC13A5_uc002gdl.1_Missense_Mutation_p.L216M	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	234						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						ATCTGGCCCAGGAGCACCACG	0.652000														50			32		9.65963e-10	1.3632e-09	0.003271	1	0
OR10J5	127385	broad.mit.edu	37	1	159505559	159505559	+	Missense_Mutation	SNP	C	T	T	rs146863607		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:159505559C>T	uc010piw.2	-	0	239	c.239G>A	c.(238-240)cGa>cAa	p.R80Q		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R80Q(2)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAAAAGCATTCGTGGCACAAT	0.428000														66			32		0	0	0.001786	0	0
abParts	0	broad.mit.edu	37	14	107099220	107099220	+	RNA	SNP	A	T	T	rs148129115	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:107099220A>T	uc021ser.1	-	109		c.4854T>A								Parts of antibodies, mostly variable regions.																		GTCTCTGGAGATGGTGAATCG	0.498000														71			4		0	0	0.000602	0	0
FAM170A	340069	broad.mit.edu	37	5	118970375	118970375	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:118970375G>A	uc003ksm.2	+	2	1142	c.932G>A	c.(931-933)aGg>aAg	p.R311K	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.R311K|FAM170A_uc003kso.3_Missense_Mutation_p.R264K	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	311						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTTGGCCTGAGGAGATCCTGG	0.537000														94			17		0	0	0.004990	0	0
EFHC1	114327	broad.mit.edu	37	6	52303138	52303138	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:52303138C>T	uc003pap.4	+	2	537	c.322C>T	c.(322-324)Cct>Tct	p.P108S	EFHC1_uc011dwv.1_Missense_Mutation_p.P17S|EFHC1_uc011dww.2_Missense_Mutation_p.P89S	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	108	DM10 1.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGAAGATGTTCCTATGTCAAC	0.358000														21			9		0	0	0.004482	0	0
DCN	1634	broad.mit.edu	37	12	91545456	91545456	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:91545456C>T	uc001tbt.3	-	6	1114	c.860G>A	c.(859-861)gGg>gAg	p.G287E	DCN_uc001tbo.3_Missense_Mutation_p.G178E|DCN_uc001tbp.3_Missense_Mutation_p.G140E|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.G287E	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	287					organ morphogenesis	extracellular space		p.G287V(2)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CTCTGCCAGCCCACCAGGTAC	0.502000														31			17		0	0	0.006122	0	0
PXDNL	137902	broad.mit.edu	37	8	52322009	52322009	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:52322009C>T	uc003xqu.4	-	16	2276	c.2175G>A	c.(2173-2175)gcG>gcA	p.A725A	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	725					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGCGGTACTTCGCATGGAAAC	0.657000														41			17		0	0	0.007413	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404153	34404153	+	RNA	SNP	T	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:34404153T>A	uc002edv.1	-	0		c.610A>T								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		CCGGTTGTTCTGCAGGACCTC	0.557000														43			4		0	0	0.000248	0	0
KCNRG	283518	broad.mit.edu	37	13	50589914	50589914	+	Silent	SNP	T	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:50589914T>A	uc001vdu.3	+	0	525	c.285T>A	c.(283-285)gtT>gtA	p.V95V	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Silent_p.V95V|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.	95	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		GTTCTCTAGTTGATCTCTTAA	0.418000														141			46		0	0	0.003610	0	0
CRYBA4	1413	broad.mit.edu	37	22	27021494	27021494	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:27021494G>A	uc003acz.4	+	3	243	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	70	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GTACATTCTGGAACGAGGCGA	0.627000														185			56		0	0	0.003610	0	0
DAXX	1616	broad.mit.edu	37	6	33286918	33286918	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:33286918C>T	uc003oec.3	-	6	2223	c.2019G>A	c.(2017-2019)ttG>ttA	p.L673L	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Intron|DAXX_uc021ywo.1_Intron|DAXX_uc011dre.2_Silent_p.L685L|DAXX_uc003oed.3_Silent_p.L673L|DAXX_uc011drd.2_Silent_p.L598L	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	673	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CCAAGGAAGCCAAGGGGGAAG	0.542000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									138			96		0	0	0.003610	0	0
KHSRP	8570	broad.mit.edu	37	19	6418802	6418802	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:6418802G>A	uc002mer.4	-	7	801	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	KHSRP_uc021unp.1_5'Flank	NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	231	Gly-rich.				RNA splicing, via transesterification reactions|mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTGCCGTTCTGGCCCCCGTTG	0.642000														35			31		0	0	0.002836	0	0
SPANXC	64663	broad.mit.edu	37	X	140335692	140335692	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:140335692C>T	uc004fbk.3	-	1	308	c.252G>A	c.(250-252)gaG>gaA	p.E84E	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	84	Poly-Glu.					cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TGAATTCCTCCTCCTCCATTT	0.453000														46			41		0	0	0.003610	0	0
GABARAPL3	23766	broad.mit.edu	37	15	90892025	90892025	+	RNA	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:90892025C>T	uc010uqf.2	-	0		c.655G>A								Homo sapiens GABA(A) receptors associated protein like 3, pseudogene (GABARAPL3), non-coding RNA.																		CACACACACCCCTCCCCTACC	0.517000														10			8		0	0	0.003080	0	0
OR5H15	403274	broad.mit.edu	37	3	97888369	97888369	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:97888369C>T	uc011bgu.2	+	0	826	c.826C>T	c.(826-828)Cta>Tta	p.L276L		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	276					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						GGTGGAGCCTCTATTCTACAC	0.388000														56			17		0	0	0.004990	0	0
OR4A5	81318	broad.mit.edu	37	11	51412062	51412062	+	Missense_Mutation	SNP	G	T	T	rs146029773		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:51412062G>T	uc001nhi.2	-	0	387	c.334C>A	c.(334-336)Ctt>Att	p.L112I		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F111L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACCACCAGAAGGAAGACCTCA	0.453000														32			6		8.12818e-05	0.000113433	0.001984	1	0
RSAD2	91543	broad.mit.edu	37	2	7030342	7030342	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:7030342T>G	uc002qyp.1	+	3	910	c.774T>G	c.(772-774)tgT>tgG	p.C258W		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 2 (RSAD2), mRNA.	258					defense response to virus	Golgi apparatus|endoplasmic reticulum membrane	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GTGAGAATTGTGGAGAAGATG	0.448000														67			19		0	0	0.007413	0	0
CMYA5	202333	broad.mit.edu	37	5	79028741	79028741	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:79028741C>T	uc003kgc.3	+	1	4225	c.4153C>T	c.(4153-4155)Cgt>Tgt	p.R1385C		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1385						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCTGTAGATCGTCCAGTCTT	0.398000														24			16		0	0	0.004990	0	0
GAS6	2621	broad.mit.edu	37	13	114526421	114526421	+	Missense_Mutation	SNP	G	A	A	rs144928601		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:114526421G>A	uc001vug.3	-	4	1735	c.683C>T	c.(682-684)gCc>gTc	p.A228V	GAS6_uc001vud.3_Missense_Mutation_p.A527V|GAS6_uc001vuf.3_Missense_Mutation_p.A254V	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	570	EGF-like 3; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GAGGTCGGGGGCCCAGAGCGC	0.632000														50			23		0	0	0.002299	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618650	77618650	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:77618650C>T	uc003yau.2	+	1	2714	c.2327C>T	c.(2326-2328)aCc>aTc	p.T776I	ZFHX4_uc003yat.1_Missense_Mutation_p.T776I|ZFHX4_uc003yaw.1_Missense_Mutation_p.T776I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	776						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)			GATTATGAAACCAATGTCGCC	0.507000										HNSCC(33;0.089)				23			13		0	0	0.001368	0	0
ITGA11	22801	broad.mit.edu	37	15	68600027	68600027	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:68600027C>T	uc010bib.3	-	26	3272	c.3185G>A	c.(3184-3186)aGc>aAc	p.S1062N	ITGA11_uc002ari.3_Missense_Mutation_p.S1061N	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	1061					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ATCAGAGTTGCTGTGATTCTG	0.542000														21			8		0	0	0.004482	0	0
GPKOW	27238	broad.mit.edu	37	X	48973501	48973501	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:48973501G>T	uc004dmr.3	-	5	803	c.796C>A	c.(796-798)Cct>Act	p.P266T		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA.	266	KOW 1.					nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						ACATTGTCAGGATCAAGGCCT	0.547000														13			15		6.49762e-13	9.19033e-13	0.006122	1	0
FAM114A1	92689	broad.mit.edu	37	4	38933112	38933112	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:38933112C>T	uc003gtn.3	+	10	1461	c.1202C>T	c.(1201-1203)aCc>aTc	p.T401I	FAM114A1_uc011byh.2_Missense_Mutation_p.T194I|FAM114A1_uc010ifi.3_Missense_Mutation_p.T59I	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA.	401						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAGGATCAAACCGTGGTGTCA	0.448000														46			20		0	0	0.001882	0	0
FLNB	2317	broad.mit.edu	37	3	58094938	58094938	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:58094938G>A	uc003djj.2	+	13	2253	c.2088G>A	c.(2086-2088)atG>atA	p.M696I	FLNB_uc010hne.2_Missense_Mutation_p.M696I|FLNB_uc003djk.2_Missense_Mutation_p.M696I|FLNB_uc010hnf.2_Missense_Mutation_p.M696I|FLNB_uc003djl.2_Missense_Mutation_p.M527I|FLNB_uc003djm.2_Missense_Mutation_p.M527I	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	696					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.Q695H(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACATCCAGATGAAGAACCGGA	0.557000														48			24		0	0	0.005443	0	0
MYH4	4622	broad.mit.edu	37	17	10366196	10366196	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:10366196G>A	uc002gmn.3	-	10	1105	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	332	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGGCCATCAGCTCTTCCTGG	0.433000														81			21		0	0	0.002780	0	0
KCND2	3751	broad.mit.edu	37	7	119915400	119915400	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:119915400G>A	uc003vjj.1	+	0	1679	c.714G>A	c.(712-714)atG>atA	p.M238I		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	238					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CCTGCGTCATGATCTTCACAG	0.542000														54			26		0	0	0.005443	0	0
TAS1R2	80834	broad.mit.edu	37	1	19168222	19168222	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:19168222C>T	uc001bba.1	-	5	1592	c.1591_splice	c.e5+1	p.D531_splice		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	531					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GTGAATCATACCTTCAGTGTG	0.612000														90			15		0	0	0.004990	0	0
AHNAK	79026	broad.mit.edu	37	11	62298653	62298653	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:62298653G>A	uc001ntl.3	-	4	3536	c.3236C>T	c.(3235-3237)cCc>cTc	p.P1079L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1079					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTCATTTTGGGTCCTTTAAG	0.443000														97			42		0	0	0.002522	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784638	30784638	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:30784638G>A	uc002wxn.2	-	2	1325	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	370						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGAGAGACAGGCTTCCAGGA	0.587000														73			24		0	0	0.002780	0	0
PDE11A	50940	broad.mit.edu	37	2	178936809	178936809	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:178936809T>A	uc002ulq.3	-	0	674	c.356A>T	c.(355-357)aAa>aTa	p.K119I	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	119					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CCTTAGCTCTTTCTGAGAAGC	0.622000									Primary Pigmented Nodular Adrenocortical Disease, Familial					63			29		0	0	0.002096	0	0
CCT7	10574	broad.mit.edu	37	2	73477004	73477004	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:73477004C>T	uc002siz.3	+	8	1173	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	CCT7_uc010yrf.2_Nonsense_Mutation_p.R300*|CCT7_uc010yrh.2_Nonsense_Mutation_p.R216*|CCT7_uc010yrg.2_Nonsense_Mutation_p.R244*|CCT7_uc010yri.2_Nonsense_Mutation_p.R257*|CCT7_uc002sja.3_Nonsense_Mutation_p.R140*	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	344					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGTGCTGGGTCGATGCCAGGT	0.577000														159			68		0	0	0.003610	0	0
ANKH	56172	broad.mit.edu	37	5	14749414	14749414	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:14749414C>T	uc003jfm.4	-	6	1019	c.688_splice	c.e6-1	p.G230_splice		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	230					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGTTGCATCTCCCTGTGTTAA	0.408000														52			21		0	0	0.002780	0	0
NLGN2	57555	broad.mit.edu	37	17	7318839	7318839	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:7318839C>T	uc002ggt.1	+	5	1120	c.1047C>T	c.(1045-1047)atC>atT	p.I349I		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	349					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCTACCACATCGCCTTTGGGC	0.607000														55			10		0	0	0.008291	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655715	46655715	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:46655715G>A	uc003bhh.3	-	0	3505	c.3505C>T	c.(3505-3507)Cct>Tct	p.P1169S		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1169					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGATCCACAGGATTAGGGATC	0.493000														132			75		0	0	0.003610	0	0
IP6K3	117283	broad.mit.edu	37	6	33694521	33694521	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:33694521C>T	uc010jvf.2	-	4	1112	c.576G>A	c.(574-576)gaG>gaA	p.E192E	IP6K3_uc003ofb.2_Silent_p.E192E	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	192					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GCCGCTTGTTCTCTGGGTACT	0.607000														38			57		0	0	0.003610	0	0
GPR179	440435	broad.mit.edu	37	17	36485713	36485713	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:36485713C>T	uc002hpz.3	-	10	3760	c.3739G>A	c.(3739-3741)Gag>Aag	p.E1247K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1247						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCAGTGACCTCCCAGGGGCAT	0.607000														113			38		0	0	0.005524	0	0
HPSE2	60495	broad.mit.edu	37	10	100374730	100374730	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:100374730G>A	uc001kpn.2	-	8	1324	c.1251C>T	c.(1249-1251)gtC>gtT	p.V417V	HPSE2_uc009xwc.2_Silent_p.V417V|HPSE2_uc001kpo.2_Silent_p.V359V|HPSE2_uc009xwd.2_Silent_p.V305V	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	417					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCCGTATCACGACATCAATGC	0.388000														69			35		0	0	0.004289	0	0
RYR2	6262	broad.mit.edu	37	1	237982430	237982430	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:237982430G>A	uc001hyl.1	+	100	14648	c.14528G>A	c.(14527-14529)cGa>cAa	p.R4843Q	RYR2_uc010pyb.1_Missense_Mutation_p.R276Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4843					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGATCTATCGAATCATCTTT	0.418000														77			30		0	0	0.006320	0	0
MYT1	4661	broad.mit.edu	37	20	62842672	62842672	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:62842672A>T	uc002yii.3	+	7	1769	c.1405A>T	c.(1405-1407)Aag>Tag	p.K469*	MYT1_uc002yih.3_Nonsense_Mutation_p.K171*|MYT1_uc002yij.3_Nonsense_Mutation_p.K101*	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	469					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTGTCCCCACAAGGATAGGAT	0.572000														48			20		0	0	0.002780	0	0
RYR2	6262	broad.mit.edu	37	1	237774194	237774194	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:237774194G>A	uc001hyl.1	+	35	4936	c.4816G>A	c.(4816-4818)Gta>Ata	p.V1606I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1606	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTTTTGAAGGTAGATGTGTC	0.547000														16			8		0	0	0.003080	0	0
STC1	6781	broad.mit.edu	37	8	23702439	23702439	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:23702439G>A	uc003xdw.1	-	3	872	c.588C>T	c.(586-588)atC>atT	p.I196I		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	196					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CTGTCTGCAGGATGTGGAAGA	0.537000														91			39		0	0	0.006230	0	0
ACAD10	80724	broad.mit.edu	37	12	112193538	112193538	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:112193538C>T	uc009zvx.3	+	20	3321	c.3121C>T	c.(3121-3123)Cgt>Tgt	p.R1041C	ACAD10_uc001tsq.3_Missense_Mutation_p.R1010C|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	1010							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.D1040N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGTGATTGATCGTGCGATTCA	0.507000														100			49		0	0	0.003610	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65153749	65153749	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:65153749C>T	uc002anv.3	+	4	592	c.458C>T	c.(457-459)cCa>cTa	p.P153L	PLEKHO2_uc002anw.3_Missense_Mutation_p.P103L	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 2 (PLEKHO2), transcript variant 1, mRNA.	153										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CGACGCCGGCCACCAACGAGA	0.647000														24			7		0	0	0.000978	0	0
PTPN22	26191	broad.mit.edu	37	1	114380974	114380974	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:114380974C>T	uc001eds.3	-	12	1178	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	PTPN22_uc021orx.1_Missense_Mutation_p.E350K|PTPN22_uc009wgq.3_Missense_Mutation_p.E295K|PTPN22_uc021ory.1_Missense_Mutation_p.E326K|PTPN22_uc010owo.2_Missense_Mutation_p.E106K|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.E350K|PTPN22_uc009wgs.2_Missense_Mutation_p.E223K|PTPN22_uc001edu.2_Missense_Mutation_p.E350K	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	350					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGAAGATTCTTTGATTTCC	0.368000														20			10		0	0	0.006214	0	0
INPP5B	3633	broad.mit.edu	37	1	38331520	38331520	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:38331520G>A	uc001ccf.1	-	15	1972	c.1935C>T	c.(1933-1935)ttC>ttT	p.F645F	INPP5B_uc009vvk.1_Intron|INPP5B_uc001ccg.1_Silent_p.F809F	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	889					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGCTCTCCAGGAAAAGCAGCA	0.507000														58			20		0	0	0.001523	0	0
TBCK	93627	broad.mit.edu	37	4	107230030	107230030	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:107230030G>A	uc010ilv.2	-	1	453	c.88C>T	c.(88-90)Cct>Tct	p.P30S	TBCK_uc003hye.2_Missense_Mutation_p.P30S|TBCK_uc003hyc.2_Missense_Mutation_p.P30S|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Missense_Mutation_p.P30S	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	30	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GGTGTGAGAGGAAGTCCATTG	0.453000														57			23		0	0	0.002780	0	0
ARMC12	221481	broad.mit.edu	37	6	35716394	35716394	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:35716394G>A	uc003ola.3	+	5	878	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	ARMC12_uc003olb.1_Missense_Mutation_p.R247Q	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	257							binding										TTTGCTGAGCGGCTGAGTGAG	0.537000														76			25		0	0	0.003954	0	0
NLRP14	338323	broad.mit.edu	37	11	7064407	7064407	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:7064407G>A	uc001mfb.1	+	3	1473	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	384	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGCAAATGGAGAAGGGTGG	0.468000														106			55		0	0	0.003610	0	0
GABPB2	126626	broad.mit.edu	37	1	151079543	151079543	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:151079543C>T	uc001ewr.2	+	6	1098	c.767C>T	c.(766-768)tCc>tTc	p.S256F	GABPB2_uc001ewt.2_Missense_Mutation_p.S117F	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	256					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GAAGGAAATTCCGTTGACTCA	0.393000														35			13		0	0	0.004007	0	0
CD7	924	broad.mit.edu	37	17	80274811	80274811	+	Silent	SNP	G	A	A	rs139943005		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:80274811G>A	uc002kel.1	-	1	238	c.129C>T	c.(127-129)tcC>tcT	p.S43S	CD7_uc010din.3_Silent_p.S43S|CD7_uc010wvk.1_Silent_p.S43S	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	43	Ig-like.				T cell activation|immune response|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TGATGTTGACGGAGGCTCCCA	0.632000														33			22		0	0	0.002299	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43815499	43815499	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:43815499C>T	uc002zbb.2	-	1	229	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	TMPRSS3_uc002zbc.2_Missense_Mutation_p.E10K|TMPRSS3_uc002zbd.3_Missense_Mutation_p.E10K	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	10					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AAGGGGGCTTCAACAGCAGGC	0.507000														49			10		0	0	0.000978	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396105	101396105	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:101396105C>T	uc022cas.1	-	0	199	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	TCEAL6_uc004eiq.3_Missense_Mutation_p.E67K	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA.	67	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						CCCTGCTTTTCCTGGCTTCCC	0.617000														45			39		0	0	0.006230	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987719	154987719	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:154987719C>T	uc001fgj.4	+	4	970	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	ZBTB7B_uc009wpa.3_Missense_Mutation_p.R195W|ZBTB7B_uc001fgk.4_Missense_Mutation_p.R195W|ZBTB7B_uc010peq.2_Missense_Mutation_p.R229W|ZBTB7B_uc001fgl.4_Missense_Mutation_p.R195W	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	195					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCGCCACCTCGGCCTGTTGC	0.657000														70			20		0	0	0.007413	0	0
KCNH5	27133	broad.mit.edu	37	14	63174948	63174948	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:63174948C>T	uc001xfx.3	-	10	2296	c.2245G>A	c.(2245-2247)Gga>Aga	p.G749R	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	749					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACGCTGGTTCCGGTGATGGAG	0.537000														56			36		0	0	0.002836	0	0
KRT36	8689	broad.mit.edu	37	17	39643395	39643395	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:39643395C>T	uc002hwt.3	-	5	1015	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	339	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCCTCGGTTTCGGCCAGGGTG	0.622000														81			40		0	0	0.003214	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66131766	66131766	+	RNA	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:66131766C>T	uc002jgq.3	+	5		c.10889C>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		GCCGCGGAACCTTCCGCCCAG	0.692000														9			10		0	0	0.008291	0	0
BPTF	2186	broad.mit.edu	37	17	65908241	65908241	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:65908241C>T	uc002jgf.3	+	10	4302	c.4241C>T	c.(4240-4242)cCc>cTc	p.P1414L	BPTF_uc002jge.3_Missense_Mutation_p.P1540L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1540					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GATAATAAACCCAAAATATAT	0.274000														71			12		0	0	0.001855	0	0
ITGA2B	3674	broad.mit.edu	37	17	42452071	42452071	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:42452071G>A	uc002igt.1	-	27	2931	c.2899C>T	c.(2899-2901)Ccc>Tcc	p.P967S	ITGA2B_uc002igu.1_3'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	967					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	ACCGCATAGGGGAGGGAGGAC	0.622000														57			30		0	0	0.002445	0	0
POLQ	10721	broad.mit.edu	37	3	121207738	121207738	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:121207738G>A	uc003eee.4	-	15	4169	c.4040C>T	c.(4039-4041)aCc>aTc	p.T1347I	POLQ_uc003eed.3_Missense_Mutation_p.T519I	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1347					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGCCAGGTTGGTGTCCTTTGC	0.423000								DNA polymerases (catalytic subunits)						108			30		0	0	0.003755	0	0
AGRN	375790	broad.mit.edu	37	1	982254	982254	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:982254G>A	uc001ack.2	+	18	3355	c.3305G>A	c.(3304-3306)aGg>aAg	p.R1102K		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1102					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCTGTCGAGAGGGCTTCCTGC	0.697000														9			3		0	0	0.004672	0	0
CD34	947	broad.mit.edu	37	1	208061248	208061248	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:208061248C>T	uc001hgw.1	-	7	1251	c.993G>A	c.(991-993)acG>acA	p.T331T	CD34_uc001hgv.1_Silent_p.T173T|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Silent_p.T196T	NM_001025109	NP_001020280	P28906	CD34_HUMAN	Homo sapiens CD34 molecule (CD34), transcript variant 1, mRNA.	331					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CACCGTTTTCCGTGTAATAAG	0.557000														25			7		0	0	0.003080	0	0
ZBBX	79740	broad.mit.edu	37	3	167031806	167031806	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:167031806A>G	uc011bpc.2	-	15	1710	c.1373T>C	c.(1372-1374)cTt>cCt	p.L458P	ZBBX_uc003feq.3_Missense_Mutation_p.L429P|ZBBX_uc003fep.3_Missense_Mutation_p.L458P	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	458						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCTCAGACAAAGATTTAAGAA	0.308000														113			25		0	0	0.004656	0	0
CACNA1D	776	broad.mit.edu	37	3	53781413	53781413	+	Silent	SNP	C	T	T	rs139767790		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:53781413C>T	uc003dgv.4	+	25	3415	c.3252C>T	c.(3250-3252)ttC>ttT	p.F1084F	CACNA1D_uc003dgu.4_Silent_p.F1104F|CACNA1D_uc003dgy.4_Silent_p.F1084F|CACNA1D_uc003dgw.4_Silent_p.F751F|CACNA1D_uc003dgx.1_Silent_p.F232F	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1084	Dihydropyridine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATTTCAACTTCGACAACGTCC	0.527000														100			51		0	0	0.003610	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602019	58602019	+	Silent	SNP	A	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:58602019A>G	uc001nnd.4	-	5	899	c.768T>C	c.(766-768)ttT>ttC	p.F256F	GLYATL2_uc009ymq.3_Silent_p.F256F	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	256						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CATGGAAATAAAATGGGATTT	0.398000														43			20		0	0	0.001882	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958926	51958926	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:51958926C>T	uc002pwt.3	-	3	864	c.797G>A	c.(796-798)gGa>gAa	p.G266E	SIGLEC8_uc010yda.2_Missense_Mutation_p.G157E|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.G173E	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	266	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGAGCCATTTCCCAGGGCTGT	0.532000														38			20		0	0	0.008871	0	0
NPR3	4883	broad.mit.edu	37	5	32738972	32738972	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:32738972G>A	uc003jhv.3	+	2	1340	c.895G>A	c.(895-897)Gat>Aat	p.D299N	NPR3_uc010iuo.3_Missense_Mutation_p.D83N|NPR3_uc003jhw.2_Missense_Mutation_p.D83N|NPR3_uc003jhu.3_Missense_Mutation_p.D299N	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	299					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCCATAGGAGATGGCTCATG	0.458000														100			19		0	0	0.008871	0	0
RNASEL	6041	broad.mit.edu	37	1	182555916	182555916	+	Missense_Mutation	SNP	G	A	A	rs142378214		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:182555916G>A	uc009wxz.2	-	1	283	c.26C>T	c.(25-27)cCc>cTc	p.P9L	RNASEL_uc001gpk.3_Missense_Mutation_p.P9L|RNASEL_uc009wya.1_Missense_Mutation_p.P9L	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	9					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCCCTCCTGGGGGTTGTTATG	0.478000														94			50		0	0	0.003610	0	0
MUC13	56667	broad.mit.edu	37	3	124632523	124632523	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:124632523G>A	uc003ehq.2	-	6	1006	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	323	EGF-like 2.					extracellular region|integral to membrane|plasma membrane		p.T322T(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TCACACCGAAGGGTCACTGAG	0.413000														27			8		0	0	0.006214	0	0
AKAP9	10142	broad.mit.edu	37	7	91722539	91722539	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:91722539G>T	uc003ulg.3	+	38	9712	c.9487G>T	c.(9487-9489)Gaa>Taa	p.E3163*	AKAP9_uc003ulf.3_Nonsense_Mutation_p.E3155*|AKAP9_uc003uli.3_Nonsense_Mutation_p.E2786*|AKAP9_uc003ulj.3_Nonsense_Mutation_p.E933*|AKAP9_uc003ull.3_Nonsense_Mutation_p.E59*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3167					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGTGGTTGCTGAACTGAAGAG	0.463000			T	BRAF	papillary thyroid									55			27		1.2476e-16	1.77461e-16	0.006320	1	0
PROM2	150696	broad.mit.edu	37	2	95952903	95952903	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:95952903C>T	uc002suk.3	+	18	2250	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	PROM2_uc002suh.2_Missense_Mutation_p.A706V|PROM2_uc002sui.3_Missense_Mutation_p.A706V|PROM2_uc002suj.3_Missense_Mutation_p.A360V|PROM2_uc002sul.3_Missense_Mutation_p.A232V|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	706						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GATGTCCTAGCCAATGTCACC	0.572000														28			5		0	0	0.003080	0	0
C12orf12	196477	broad.mit.edu	37	12	91348192	91348192	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:91348192G>A	uc001tbj.3	-	0	762	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	110										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						CCATACACCCGAAACACTTGC	0.647000														33			10		0	0	0.006214	0	0
OR52E6	390078	broad.mit.edu	37	11	5862489	5862489	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5862489G>A	uc010qzq.2	-	0	639	c.639C>T	c.(637-639)ctC>ctT	p.L213L	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATAATAAGGAGCACATCCA	0.488000														25			11		0	0	0.008291	0	0
PGAP1	80055	broad.mit.edu	37	2	197777762	197777762	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:197777762G>A	uc002utw.3	-	3	607	c.493C>T	c.(493-495)Cca>Tca	p.P165S	PGAP1_uc002utx.3_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.P165S|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_5'UTR	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	165					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACACTTTTTGGAGCAAATTCT	0.323000														35			17		0	0	0.007413	0	0
MORC2	22880	broad.mit.edu	37	22	31324111	31324111	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:31324111G>A	uc003aje.1	-	25	4103	c.2739C>T	c.(2737-2739)gcC>gcT	p.A913A		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	975							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						TTTCCTCGGAGGCCTTGGCCC	0.577000														53			23		0	0	0.002780	0	0
TECPR1	25851	broad.mit.edu	37	7	97862948	97862948	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:97862948G>A	uc003upg.3	-	10	1662	c.1457C>T	c.(1456-1458)cCc>cTc	p.P486L	TECPR1_uc003uph.1_Missense_Mutation_p.P416L	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	486						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATTGGTCCAGGGCAGCTCGGC	0.682000														47			27		0	0	0.007291	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327227	150327227	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:150327227C>T	uc022apv.1	-	1	484	c.4G>A	c.(4-6)Gag>Aag	p.E2K	GIMAP6_uc003whn.3_Missense_Mutation_p.E2K|GIMAP6_uc003whm.3_Missense_Mutation_p.E2K	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	2							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTTCTTCCTCCATCTACaaa	0.423000														67			31		0	0	0.007291	0	0
FOXI1	2299	broad.mit.edu	37	5	169535405	169535405	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:169535405T>G	uc003mai.4	+	1	972	c.927T>G	c.(925-927)agT>agG	p.S309R	FOXI1_uc003maj.4_Missense_Mutation_p.S214R	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	309					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGAGCCCAGTGACAAGACGG	0.612000									Pendred syndrome					50			18		0	0	0.004990	0	0
LTF	4057	broad.mit.edu	37	3	46497310	46497310	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:46497310C>T	uc003cpq.3	-	3	716	c.475G>A	c.(475-477)Ggt>Agt	p.G159S	LTF_uc003fzr.3_Missense_Mutation_p.G115S|LTF_uc010hjh.3_Missense_Mutation_p.G159S|LTF_uc003cpr.3_Missense_Mutation_p.G146S	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	159	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TCAGGTGGACCCGTCCAATTC	0.562000														40			18		0	0	0.008871	0	0
ZNF215	7762	broad.mit.edu	37	11	6977075	6977075	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:6977075C>T	uc001mey.3	+	6	1455	c.867C>T	c.(865-867)ttC>ttT	p.F289F	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Silent_p.F51F|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	289					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AAGAGGCTTTCATTCCTGAGA	0.363000														86			38		0	0	0.006230	0	0
DICER1	23405	broad.mit.edu	37	14	95560482	95560482	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:95560482G>T	uc001ydw.2	-	24	5319	c.5107C>A	c.(5107-5109)Cgc>Agc	p.R1703S	DICER1_uc010avh.1_Missense_Mutation_p.R601S|DICER1_uc021sbc.1_Missense_Mutation_p.R1703S|DICER1_uc001ydv.2_Missense_Mutation_p.R1693S|DICER1_uc001ydx.2_Missense_Mutation_p.R1703S	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1703	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R1703C(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AATTCTAAGCGCTGGTAACAA	0.517000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					92			23		3.28513e-13	4.65177e-13	0.003954	1	0
SPEF2	79925	broad.mit.edu	37	5	35792480	35792480	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:35792480G>A	uc003jjo.3	+	30	4597	c.4486G>A	c.(4486-4488)Gat>Aat	p.D1496N	SPEF2_uc003jjp.1_Missense_Mutation_p.D982N|SPEF2_uc003jjr.3_Missense_Mutation_p.D551N	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1496					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATTCTGATCGATTTGGTGAC	0.358000														47			20		0	0	0.001523	0	0
GPR139	124274	broad.mit.edu	37	16	20043519	20043519	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:20043519G>A	uc002dgu.1	-	1	762	c.600C>T	c.(598-600)ttC>ttT	p.F200F	GPR139_uc010vaw.1_Silent_p.F107F	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	200						integral to membrane|plasma membrane		p.F200L(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGTTCAAGATGAAGAAGATGG	0.507000														43			17		0	0	0.007413	0	0
SCARA5	286133	broad.mit.edu	37	8	27737264	27737264	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:27737264C>T	uc003xgj.3	-	7	1784	c.1173G>A	c.(1171-1173)atG>atA	p.M391I	SCARA5_uc010luz.3_Missense_Mutation_p.M166I	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	391					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	p.M391V(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGCGGATCATCATCGGGGCCT	0.652000														45			13		0	0	0.002450	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731709	140731709	+	Silent	SNP	T	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140731709T>C	uc003ljo.2	+	0	1882	c.1882T>C	c.(1882-1884)Ttg>Ctg	p.L628L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.L628L	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	634	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCGTGCCTTGGGCGACAG	0.697000														37			9		0	0	0.001368	0	0
TMEM38B	55151	broad.mit.edu	37	9	108467950	108467950	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:108467950G>A	uc004bcu.1	+	1	302	c.185G>A	c.(184-186)gGa>gAa	p.G62E	TMEM38B_uc010mtn.1_Missense_Mutation_p.G62E	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	62						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTTGGTGGAGGAATTTTATCC	0.423000														50			31		0	0	0.002836	0	0
SCAND3	114821	broad.mit.edu	37	6	28540229	28540229	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:28540229C>T	uc003nlo.3	-	3	4055	c.3437G>A	c.(3436-3438)aGa>aAa	p.R1146K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1146					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						tgtagaaattctgtttttcca	0.308000														58			31		0	0	0.002836	0	0
PXDNL	137902	broad.mit.edu	37	8	52339295	52339295	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:52339295G>A	uc003xqu.4	-	12	1650	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	517	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTATCCTGAGGAAGTTGAGTA	0.368000														21			6		0	0	0.001168	0	0
KCTD13	253980	broad.mit.edu	37	16	29923187	29923187	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:29923187G>A	uc002duv.3	-	4	696	c.505_splice	c.e4-1	p.P169_splice	BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc021tge.1_Splice_Site	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 13 (KCTD13), mRNA.	169					DNA replication|cell migration|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CTTCACCACGGGCTGGCGGGG	0.677000														38			20		0	0	0.003330	0	0
PCDH18	54510	broad.mit.edu	37	4	138449647	138449647	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:138449647C>T	uc003ihe.4	-	2	3112	c.2725G>A	c.(2725-2727)Gga>Aga	p.G909R	PCDH18_uc003ihf.4_Missense_Mutation_p.G901R|PCDH18_uc011cgz.2_Missense_Mutation_p.G120R|PCDH18_uc003ihg.4_Missense_Mutation_p.G688R|PCDH18_uc011cha.2_Missense_Mutation_p.G89R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	909	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGAATTCTTCCATCTGTGAGA	0.418000														161			57		0	0	0.003610	0	0
BANK1	55024	broad.mit.edu	37	4	102994868	102994868	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:102994868G>A	uc003hvy.4	+	15	2600	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	BANK1_uc003hvx.4_Missense_Mutation_p.E761K|BANK1_uc010ill.3_Missense_Mutation_p.E643K|BANK1_uc003hvz.4_Missense_Mutation_p.E746K	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	776					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGTTGAAAAGGAATTTGGTTT	0.328000														52			17		0	0	0.007413	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847147	47847147	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:47847147G>A	uc011dwm.2	-	2	1467	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	PTCHD4_uc011dwn.2_Missense_Mutation_p.S225F	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	478						integral to membrane	hedgehog receptor activity										CCCCATGAAGGAGAAGGAGGC	0.413000														26			14		0	0	0.001855	0	0
SCN4A	6329	broad.mit.edu	37	17	62018757	62018757	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:62018757G>A	uc002jds.1	-	23	4962	c.4885C>T	c.(4885-4887)Ccc>Tcc	p.P1629S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1629					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GTGGCGTCGGGGTCGAACTTC	0.552000														51			9		0	0	0.004482	0	0
FLT3	2322	broad.mit.edu	37	13	28589742	28589742	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:28589742C>T	uc001urw.3	-	20	2720	c.2638G>A	c.(2638-2640)Gaa>Aaa	p.E880K	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.E839K	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	880	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GAGAAGATTTCCCACAGTAAT	0.547000			"""Mis, O"""		"""AML, ALL"""									92			30		0	0	0.008361	0	0
POF1B	79983	broad.mit.edu	37	X	84570718	84570718	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:84570718C>T	uc004eer.2	-	7	1023	c.877G>A	c.(877-879)Gat>Aat	p.D293N	POF1B_uc004ees.3_Missense_Mutation_p.D293N	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	293							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTTACCTCATCTGTAGACTCA	0.284000														16			17		0	0	0.001523	0	0
SCN3A	6328	broad.mit.edu	37	2	166032796	166032796	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:166032796G>A	uc002ucx.3	-	2	601	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S	SCN3A_uc002ucy.3_Missense_Mutation_p.P37S|SCN3A_uc002ucz.3_Missense_Mutation_p.P37S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	37						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCCTTTTTGGGCTTCTTGGCT	0.438000														131			34		0	0	0.003755	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144877207	144877207	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:144877207C>T	uc021ouh.1	-	27	4782	c.4480G>A	c.(4480-4482)Gaa>Aaa	p.E1494K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E1494K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E1450K|PDE4DIP_uc001elv.4_Missense_Mutation_p.E501K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1494					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTCTCCCTTCTCGTATTTTT	0.428000			T	PDGFRB	MPD									123			21		0	0	0.004656	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24242035	24242035	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:24242035C>T	uc003xdz.2	+	0	238	c.18C>T	c.(16-18)tcC>tcT	p.S6S	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_5'UTR	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	6					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)		GTGGGATCTCCCAGCTACCTG	0.458000														22			11		0	0	0.000978	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258394	9258394	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:9258394A>G	uc002knv.3	+	8	5393	c.5129A>G	c.(5128-5130)tAt>tGt	p.Y1710C	ANKRD12_uc002knw.3_Missense_Mutation_p.Y1687C|ANKRD12_uc002knx.3_Missense_Mutation_p.Y1687C|ANKRD12_uc010dkx.1_Missense_Mutation_p.Y1417C	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1710						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATGCATAAATATGGTCAGTTA	0.338000														28			3		0	0	0.004672	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593261	1593261	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:1593261A>T	uc010itg.1	-	1	276	c.199T>A	c.(199-201)Tgt>Agt	p.C67S	SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		CTCAGGGCACATGCCTGACCA	0.542000														36			4		0	0	0.000602	0	0
OR10S1	219873	broad.mit.edu	37	11	123848078	123848078	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:123848078G>A	uc001pzm.1	-	0	321	c.321C>T	c.(319-321)tcC>tcT	p.S107S		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGCCCTCAAAGGAGATCACCT	0.542000														24			10		0	0	0.001368	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307278	39307278	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:39307278G>A	uc021wwc.1	-	1	859	c.819C>T	c.(817-819)ttC>ttT	p.F273F	CX3CR1_uc021wwa.1_Silent_p.F241F|CX3CR1_uc021wwb.1_Silent_p.F241F|CX3CR1_uc003cjl.3_Silent_p.F241F|CX3CR1_uc021wwd.1_Silent_p.F241F	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	241					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TCCAGAAGAGGAAAAACACGA	0.458000														80			45		0	0	0.002222	0	0
APLP2	334	broad.mit.edu	37	11	130011963	130011963	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:130011963C>T	uc010sby.2	+	16	2341	c.2184C>T	c.(2182-2184)atC>atT	p.I728I	APLP2_uc001qfp.3_Silent_p.I716I|APLP2_uc001qfq.3_Silent_p.I660I|APLP2_uc010sbz.2_Silent_p.I516I|APLP2_uc001qfr.3_Silent_p.I482I|APLP2_uc001qfs.3_Silent_p.I487I|APLP2_uc021qsg.1_Silent_p.I726I|APLP2_uc001qfv.3_Silent_p.I619I|APLP2_uc009zcv.3_Silent_p.I76I	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	728					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GCCACGGGATCGTGGAGGTGA	0.592000														19			12		0	0	0.001368	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13928164	13928164	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:13928164C>T	uc002mxh.1	+	6	1504	c.1315C>T	c.(1315-1317)Cca>Tca	p.P439S	ZSWIM4_uc010xng.1_Missense_Mutation_p.P362S	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	439							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TACCCTTTACCCAGGTACTCA	0.632000														32			19		0	0	0.001523	0	0
SUN5	140732	broad.mit.edu	37	20	31583446	31583446	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:31583446C>T	uc002wyi.3	-	7	606	c.513G>A	c.(511-513)gaG>gaA	p.E171E		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	171					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGGCTTCCATCTCCTGGAGCT	0.498000														180			98		0	0	0.003610	0	0
DRGX	644168	broad.mit.edu	37	10	50594858	50594858	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:50594858C>T	uc010qgq.2	-	3	296	c.296G>A	c.(295-297)gGg>gAg	p.G99E	DRGX_uc021pqd.1_Missense_Mutation_p.G94E	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	99					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GTCTGAGGCCCCTCTCTCTGT	0.567000														180			47		0	0	0.003610	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724706	113724706	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:113724706G>A	uc003eax.3	-	9	1664	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Missense_Mutation_p.S484F|KIAA1407_uc011bip.1_Missense_Mutation_p.S493F	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	506										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATTCTGAAGGGAACCCTGCAA	0.547000														105			69		0	0	0.003610	0	0
RLTPR	146206	broad.mit.edu	37	16	67685733	67685733	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:67685733C>T	uc002etn.3	+	24	2693	c.2573C>T	c.(2572-2574)gCc>gTc	p.A858V	RLTPR_uc010cel.1_Missense_Mutation_p.A851V|RLTPR_uc010vjr.2_Missense_Mutation_p.A822V|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	858										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTGCAAGATGCCTTCActagg	0.647000														22			17		0	0	0.004007	0	0
LRP5	4041	broad.mit.edu	37	11	68125199	68125199	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:68125199G>A	uc001ont.3	+	2	645	c.570G>A	c.(568-570)gtG>gtA	p.V190V	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	190	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGATCATTGTGGACTCGGACA	0.602000														20			14		0	0	0.003163	0	0
LIMK2	3985	broad.mit.edu	37	22	31656015	31656015	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:31656015C>T	uc003akh.3	+	4	648	c.503C>T	c.(502-504)tCc>tTc	p.S168F	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Missense_Mutation_p.S147F|LIMK2_uc003akk.3_Missense_Mutation_p.S147F|LIMK2_uc011aln.2_Missense_Mutation_p.S85F	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	168	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TTCTCCGTGTCCGTGGAGAGT	0.552000														82			23		0	0	0.006320	0	0
C9orf72	203228	broad.mit.edu	37	9	27556764	27556764	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:27556764G>A	uc003zqq.2	-	7	983	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	C9orf72_uc022bfa.1_Missense_Mutation_p.R296W	NM_018325	NP_060795	Q96LT7	CI072_HUMAN	Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA.	296										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		ATGACTTGCCGGAAAGGCAGC	0.373000														71			71		0	0	0.003610	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962799	73962799	+	Silent	SNP	T	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:73962799T>C	uc004eby.3	-	2	2210	c.1593A>G	c.(1591-1593)gtA>gtG	p.V531V		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	531					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCTTACGGGTTACTTTTCTTC	0.423000														17			18		0	0	0.004990	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537283	5537283	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5537283C>T	uc001maz.4	-	0	674	c.389G>A	c.(388-390)gGa>gAa	p.G130E	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	130								p.K129E(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GCTGCTGTTTCCTTTGGTGTT	0.532000														60			30		0	0	0.001786	0	0
MAP7	9053	broad.mit.edu	37	6	136686891	136686891	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:136686891C>T	uc011edg.2	-	9	1594	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	MAP7_uc011edf.2_Missense_Mutation_p.E404K|MAP7_uc010kgu.3_Missense_Mutation_p.E441K|MAP7_uc011edh.2_Missense_Mutation_p.E404K|MAP7_uc010kgv.3_Missense_Mutation_p.E441K|MAP7_uc010kgs.3_Missense_Mutation_p.E273K|MAP7_uc011edi.2_Missense_Mutation_p.E273K|MAP7_uc010kgq.2_Missense_Mutation_p.E325K|MAP7_uc003qgz.3_Missense_Mutation_p.E419K|MAP7_uc003qha.2_Missense_Mutation_p.E382K|MAP7_uc010kgr.2_Missense_Mutation_p.E273K	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	419	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ACTTCTGGTTCAGCAGGTGTC	0.478000														36			28		0	0	0.007291	0	0
NRXN1	9378	broad.mit.edu	37	2	50723137	50723137	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:50723137C>T	uc021vhh.1	-	13	3897	c.2976G>A	c.(2974-2976)atG>atA	p.M992I	NRXN1_uc002rxb.4_Missense_Mutation_p.M664I|NRXN1_uc021vhg.1_Missense_Mutation_p.M1032I|NRXN1_uc021vhi.1_Missense_Mutation_p.M1028I|NRXN1_uc021vhj.1_Missense_Mutation_p.M988I|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	992	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCTTGATATCATCACGTTGT	0.438000														34			5		0	0	0.001984	0	0
ZNF643	65243	broad.mit.edu	37	1	40929142	40929142	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:40929142A>G	uc001cfn.2	+	4	1783	c.1486A>G	c.(1486-1488)Att>Gtt	p.I496V	ZNF643_uc001cfl.2_Missense_Mutation_p.I394V|ZNF643_uc001cfm.2_Missense_Mutation_p.I362V	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			ACATCAGAGAATTCATACTGG	0.373000														34			12		0	0	0.001368	0	0
SPTBN1	6711	broad.mit.edu	37	2	54873100	54873100	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:54873100C>T	uc002rxu.3	+	21	4779	c.4530C>T	c.(4528-4530)tcC>tcT	p.S1510S	SPTBN1_uc002rxx.3_Silent_p.S1497S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1510					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGGCAACTTCCACGGATCATG	0.438000														79			25		0	0	0.005443	0	0
ZFPM2	23414	broad.mit.edu	37	8	106800990	106800990	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:106800990G>A	uc003ymd.3	+	5	600	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	ZFPM2_uc011lhs.2_5'UTR	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	193					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTCTGAGGGTGAAGAGCTAAT	0.458000														77			39		0	0	0.002852	0	0
DLGAP2	9228	broad.mit.edu	37	8	1575016	1575016	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:1575016C>T	uc003wpl.3	+	3	1410	c.1313C>T	c.(1312-1314)gCc>gTc	p.A438V	DLGAP2_uc003wpm.3_Missense_Mutation_p.A438V	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	517					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TACATGAGGGCCGTCAGCACC	0.657000														12			3		0	0	0.004672	0	0
YTHDC1	91746	broad.mit.edu	37	4	69203412	69203412	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:69203412G>A	uc003hdx.3	-	2	690	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	YTHDC1_uc003hdy.3_Missense_Mutation_p.R113W	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	113										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGAATTTTCCGATCAGCATCT	0.388000														64			19		0	0	0.008871	0	0
CD59	966	broad.mit.edu	37	11	33743976	33743976	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:33743976C>T	uc001mus.4	-	0	298	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	CD59_uc009yjx.3_Missense_Mutation_p.G6R|CD59_uc009yjy.3_Missense_Mutation_p.G6R|CD59_uc009yjz.3_Missense_Mutation_p.G6R|CD59_uc001mut.4_Missense_Mutation_p.G6R|CD59_uc009yka.3_Missense_Mutation_p.G6R|CD59_uc001muu.4_Missense_Mutation_p.G6R|CD59_uc001muv.4_Missense_Mutation_p.G6R	NM_001127223	NP_976076	P13987	CD59_HUMAN	Homo sapiens CD59 molecule, complement regulatory protein (CD59), transcript variant 5, mRNA.	6					blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						AGGACAGACCCTCCTTGGATT	0.522000														54			7		0	0	0.001984	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651577	121651577	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:121651577C>T	uc003vjy.3	+	11	2872	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	826					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCCTCTGCTTCCTTCAGTAGT	0.458000														173			69		0	0	0.003610	0	0
CELA3B	23436	broad.mit.edu	37	1	22329551	22329551	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:22329551G>A	uc001bfl.3	+	1	118	c.99G>A	c.(97-99)gaG>gaA	p.E33E	CELA3B_uc009vqf.3_Intron	NM_005747	NP_005738	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.	33	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCCATGGTGAGGATGCGGTCC	0.602000														83			45		0	0	0.003610	0	0
CDC27	996	broad.mit.edu	37	17	45221283	45221283	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:45221283G>A	uc002ile.4	-	9	1281	c.1154C>T	c.(1153-1155)tCa>tTa	p.S385L	CDC27_uc002ild.4_Missense_Mutation_p.S379L|CDC27_uc002ilf.4_Missense_Mutation_p.S379L|CDC27_uc010wkp.2_Missense_Mutation_p.S318L|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	379					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAAGAGTCGTGAACTTCTTCG	0.373000														25			12		0	0	0.001855	0	0
PDE6B	5158	broad.mit.edu	37	4	628613	628613	+	Missense_Mutation	SNP	G	A	A	rs140444984		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:628613G>A	uc003gap.3	+	1	669	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	PDE6B_uc003gao.4_Missense_Mutation_p.E206K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	206	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CAGCGAAGACGAAGATGTGAG	0.602000														55			12		0	0	0.004007	0	0
KLC1	3831	broad.mit.edu	37	14	104124103	104124103	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:104124103T>C	uc001yno.3	+	2	790	c.482T>C	c.(481-483)aTt>aCt	p.I161T	KLC1_uc010tyd.1_Missense_Mutation_p.I320T|KLC1_uc010tye.1_Missense_Mutation_p.I157T|KLC1_uc001ynm.1_Missense_Mutation_p.I161T|KLC1_uc010tyf.2_Missense_Mutation_p.I161T	NM_182923	NP_891553	Q07866	KLC1_HUMAN	Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA.	161					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GATGACGACATTTCCCCATCC	0.428000														15			10		0	0	0.006214	0	0
EXD3	54932	broad.mit.edu	37	9	140218287	140218287	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:140218287C>T	uc004cmp.2	-	18	2270	c.2074G>A	c.(2074-2076)Ggg>Agg	p.G692R	EXD3_uc010ncf.1_Missense_Mutation_p.G343R	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	692					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGCAGCGCCCAGCCCCGACC	0.672000														15			16		0	0	0.003163	0	0
C15orf33	196951	broad.mit.edu	37	15	49882204	49882204	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:49882204C>T	uc001zxl.2	-	4	400	c.106_splice	c.e4-1	p.D36_splice	C15orf33_uc001zxm.3_Splice_Site_p.D36_splice	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	36										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		GGCCAATAATCCTGCAAAAAA	0.284000														33			11		0	0	0.008291	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21008007	21008007	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:21008007G>A	uc010sil.2	+	1	195	c.130G>A	c.(130-132)Ggt>Agt	p.G44S	SLCO1B3_uc001rek.3_Missense_Mutation_p.G44S|SLCO1B3_uc001rel.3_Missense_Mutation_p.G44S|SLCO1B3_uc010sim.2_Missense_Mutation_p.G44S			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	44					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.G44C(2)|p.G44G(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TAAAGCACTAGGTGGAATCAT	0.318000														25			18		0	0	0.001523	0	0
ADH1A	124	broad.mit.edu	37	4	100203746	100203746	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:100203746G>A	uc003hur.2	-	5	699	c.585C>T	c.(583-585)acC>acT	p.T195T	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	195					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	p.T195T(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACACAGCACAGGTAGAGCCTG	0.458000														130			71		0	0	0.003610	0	0
KSR2	283455	broad.mit.edu	37	12	118198936	118198936	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:118198936C>T	uc001two.2	-	3	834	c.779G>A	c.(778-780)gGg>gAg	p.G260E		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	289	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGTGGGGTCCCCGGGGGCTT	0.677000														391			127		0	0	0.003610	0	0
TRIM3	10612	broad.mit.edu	37	11	6477540	6477540	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:6477540G>A	uc001mdh.3	-	6	1812	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L	TRIM3_uc001mdi.3_Silent_p.L472L|TRIM3_uc010raj.2_Silent_p.L353L|TRIM3_uc009yfd.3_Silent_p.L472L|TRIM3_uc010rak.1_Silent_p.L472L|TRIM3_uc001mdj.2_Silent_p.L353L	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	472					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.L472L(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACGGAAGACGAGCTCATCCT	0.607000														44			26		0	0	0.005443	0	0
MYO5C	55930	broad.mit.edu	37	15	52517715	52517715	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:52517715G>A	uc010bff.3	-	25	3384	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	MYO5C_uc010uga.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1074						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTCTTTTTCGAACTCAGAGA	0.368000														90			39		0	0	0.002222	0	0
TPTE	7179	broad.mit.edu	37	21	10906979	10906979	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:10906979G>A	uc002yip.1	-	23	1950	c.1582C>T	c.(1582-1584)Cca>Tca	p.P528S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P510S|TPTE_uc002yir.1_Missense_Mutation_p.P490S|TPTE_uc010gkv.1_Missense_Mutation_p.P390S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	528	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D527N(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AAATCTGATGGATAAATTCTC	0.368000														44			7		0	0	0.003080	0	0
YME1L1	10730	broad.mit.edu	37	10	27434373	27434373	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:27434373G>A	uc001iti.3	-	3	696	c.486C>T	c.(484-486)ttC>ttT	p.F162F	YME1L1_uc001itj.3_Silent_p.F105F|YME1L1_uc010qdl.2_Silent_p.F105F|YME1L1_uc001itk.2_3'UTR	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	162					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TATTTTCAAAGAAGGATTGTG	0.318000														39			16		0	0	0.004990	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4457109	4457109	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:4457109G>A	uc002fxz.4	-	4	619	c.557C>T	c.(556-558)tCc>tTc	p.S186F	MYBBP1A_uc002fyb.4_Missense_Mutation_p.S186F	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	186	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCATACCTCGGAGAGGATGTC	0.587000														28			5		0	0	0.001168	0	0
PPARA	5465	broad.mit.edu	37	22	46594430	46594430	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:46594430C>T	uc003bhb.1	+	1	273	c.150C>T	c.(148-150)ggC>ggT	p.G50G	PPARA_uc003bgw.1_Silent_p.G50G|PPARA_uc003bgx.1_Silent_p.G50G|PPARA_uc010hab.1_Silent_p.G50G|PPARA_uc003bgy.1_Non-coding_Transcript|PPARA_uc003bgz.1_Non-coding_Transcript|PPARA_uc003bha.3_Silent_p.G50G|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	50					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GAAGCTTTGGCTTTACGGAAT	0.453000														103			43		0	0	0.003610	0	0
TOP2B	7155	broad.mit.edu	37	3	25674191	25674191	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:25674191G>A	uc011awn.1	-	8	1164	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	TOP2B_uc003cdj.2_Missense_Mutation_p.P369L|TOP2B_uc021wug.1_Missense_Mutation_p.P369L	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	374					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TACTTGAAATGGTTTCACTGA	0.333000														98			36		0	0	0.004289	0	0
PES1	23481	broad.mit.edu	37	22	30976584	30976584	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:30976584G>A	uc003aij.2	-	9	1124	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	PES1_uc003aik.2_Silent_p.P334P|PES1_uc003aio.1_Silent_p.P200P|PES1_uc003ain.1_Silent_p.P200P	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	339	BRCT.|Sufficient for interaction with MAP1B (By similarity).				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GGGCCTCACGGGGCACCTCTC	0.612000														78			25		0	0	0.002780	0	0
SSX7	280658	broad.mit.edu	37	X	52677369	52677369	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:52677369C>T	uc004dqx.1	-	5	567	c.408G>A	c.(406-408)ggG>ggA	p.G136G		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					ACAGGTGTTTCCCATCGTTCT	0.483000														59			87		0	0	0.003610	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173765	207173765	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:207173765C>T	uc002vbp.2	+	4	4763	c.4513C>T	c.(4513-4515)Cct>Tct	p.P1505S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1505							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCTGATGTTCCTTTTCAAAT	0.413000														48			16		0	0	0.004990	0	0
CDX4	1046	broad.mit.edu	37	X	72667348	72667348	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:72667348C>T	uc011mqk.2	+	0	259	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	87						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GAGCGTGTATCCTGGGCCGTC	0.612000														16			16		0	0	0.008871	0	0
ITGB3	3690	broad.mit.edu	37	17	45369775	45369775	+	Missense_Mutation	SNP	G	A	A	rs150951945		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:45369775G>A	uc002ilj.3	+	9	1551	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	511	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.D510D(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CCAGCAGGACGAATGCAGCCC	0.627000														79			14		0	0	0.002450	0	0
CYLC2	1539	broad.mit.edu	37	9	105767023	105767023	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:105767023G>A	uc004bbs.2	+	3	297	c.227G>A	c.(226-228)tGg>tAg	p.W76*		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	76	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAACCATTATGGATGTACCGT	0.388000														20			15		0	0	0.004990	0	0
F13B	2165	broad.mit.edu	37	1	197026195	197026195	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:197026195C>T	uc001gtt.1	-	6	1163	c.1119G>A	c.(1117-1119)tcG>tcA	p.S373S		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	373	Sushi 6.				blood coagulation	extracellular region		p.S373L(1)		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						TTATCTCATTCGATCCATGGA	0.373000														43			20		0	0	0.001523	0	0
BLNK	29760	broad.mit.edu	37	10	97990570	97990570	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:97990570C>T	uc001kls.4	-	3	362	c.184G>A	c.(184-186)Gag>Aag	p.E62K	BLNK_uc001kme.4_Intron|BLNK_uc001klt.4_Intron|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_5'UTR|BLNK_uc001klv.4_Missense_Mutation_p.E62K|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.E62K|BLNK_uc001kly.4_Missense_Mutation_p.E62K|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.E62K|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_5'UTR|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	62				E -> Q (in Ref. 3; AAH18906).	B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GACCACTGCTCCTCTTCGTCA	0.542000														23			5		0	0	0.001984	0	0
XIRP1	165904	broad.mit.edu	37	3	39226199	39226199	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:39226199C>T	uc003cjk.2	-	1	4967	c.4738G>A	c.(4738-4740)Gac>Aac	p.D1580N	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.D263N|XIRP1_uc021wvz.1_Missense_Mutation_p.D1580N	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1580							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCACTGTGGTCTTTTGGAGGT	0.587000														167			64		0	0	0.003610	0	0
LGALS9	3965	broad.mit.edu	37	17	25974374	25974374	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:25974374C>T	uc002gzp.3	+	9	955	c.837C>T	c.(835-837)cgC>cgT	p.R279R	LGALS9_uc002gzq.3_Silent_p.R247R|LGALS9_uc002gzr.3_Silent_p.R190R|LGALS9_uc010waa.2_Intron	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	279	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CTGTGGTCCGCAACACCCAGA	0.592000														61			14		0	0	0.002450	0	0
OR5H14	403273	broad.mit.edu	37	3	97868569	97868569	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:97868569C>T	uc003dsg.1	+	0	340	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L114F(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAATGTTTTCTCTTGGCAAC	0.398000														167			38		0	0	0.005524	0	0
USP16	10600	broad.mit.edu	37	21	30414797	30414797	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:30414797C>T	uc002ymy.3	+	11	1329	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	USP16_uc002ymx.3_Missense_Mutation_p.S375F|USP16_uc002ymw.3_Missense_Mutation_p.S376F|USP16_uc011acm.2_Missense_Mutation_p.S361F|USP16_uc011acn.2_Intron|USP16_uc011aco.2_Missense_Mutation_p.S66F	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	376					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						GTTAAGGTCTCCTTGGTTCAT	0.368000														60			15		0	0	0.004007	0	0
CD248	57124	broad.mit.edu	37	11	66083855	66083855	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:66083855T>C	uc001ohm.1	-	0	661	c.644A>G	c.(643-645)aAg>aGg	p.K215R		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	215	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CTCAGGCTGCTTCACGCAGAG	0.667000														37			9		0	0	0.006214	0	0
FAM65B	9750	broad.mit.edu	37	6	24848259	24848259	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:24848259G>A	uc003neo.1	-	11	1247	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	FAM65B_uc011djs.1_Silent_p.S386S|FAM65B_uc011dju.2_Silent_p.S391S|FAM65B_uc003nep.3_Silent_p.S357S|FAM65B_uc011djt.2_Silent_p.S357S	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	357					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TTACAAAGAAGGAGTGGTCTT	0.522000														56			20		0	0	0.001882	0	0
KCNA5	3741	broad.mit.edu	37	12	5155058	5155058	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:5155058C>T	uc001qni.3	+	0	1974	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	582						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GGCAGCTGCCCCCTAGAGAAG	0.602000														41			19		0	0	0.006122	0	0
ZAN	7455	broad.mit.edu	37	7	100333342	100333342	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:100333342G>A	uc003uwj.3	+	3	219	c.54_splice	c.e3-1	p.R18_splice	ZAN_uc003uwk.3_Splice_Site_p.R18_splice|ZAN_uc003uwl.3_Splice_Site|ZAN_uc010lhh.3_Splice_Site|ZAN_uc010lhi.3_Splice_Site	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	18					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)			CGACCCCCAAGGAAAGAGAAG	0.468000														14			8		0	0	0.004482	0	0
DNAH11	8701	broad.mit.edu	37	7	21723441	21723441	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:21723441C>T	uc003svc.3	+	32	5552	c.5521C>T	c.(5521-5523)Cgt>Tgt	p.R1841C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1841	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1841H(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCTCAACTTCGTCACCGATG	0.438000									Kartagener syndrome					231			92		0	0	0.003610	0	0
ACTR8	93973	broad.mit.edu	37	3	53907082	53907082	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:53907082G>A	uc003dhd.3	-	8	1239	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	ACTR8_uc003dhb.3_Nonsense_Mutation_p.R85*|ACTR8_uc003dhc.3_Nonsense_Mutation_p.R269*	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	380					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	p.R380*(2)|p.R85*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TCTCCTAATCGAAACTGGTAA	0.433000														22			10		0	0	0.008291	0	0
GRN	2896	broad.mit.edu	37	17	42428479	42428479	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:42428479C>T	uc002igp.1	+	7	1002	c.783C>T	c.(781-783)ctC>ctT	p.L261L		NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	261					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTAAGTGCCTCTCCAAGGAGA	0.617000											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			17		0	0	0.004990	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55351130	55351130	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:55351130G>A	uc002qhm.1	+	4	662	c.616G>A	c.(616-618)Gat>Aat	p.D206N	KIR3DL2_uc010yfj.2_Silent_p.V199V|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.V206V|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	309					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AAACTCGAGTGATCCACTGCT	0.557000														78			82		0	0	0.003610	0	0
EPB49	2039	broad.mit.edu	37	8	21938682	21938682	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:21938682G>A	uc022asw.1	+	13	1120	c.1082G>A	c.(1081-1083)gGg>gAg	p.G361E	EPB49_uc022asq.1_3'UTR|EPB49_uc022asr.1_3'UTR|EPB49_uc022ass.1_3'UTR|EPB49_uc022ast.1_3'UTR|EPB49_uc022asu.1_3'UTR|EPB49_uc022asv.1_3'UTR|EPB49_uc022asx.1_Missense_Mutation_p.G339E|EPB49_uc022asy.1_Missense_Mutation_p.G314E	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	361	HP.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		CTGCCACCGGGGGTGGATCGG	0.612000														76			18		0	0	0.007413	0	0
LRRC16B	90668	broad.mit.edu	37	14	24526176	24526176	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:24526176C>T	uc001wlj.2	+	12	1162	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	335										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TTGCCAGCTCCCTTCGATACC	0.627000														45			11		0	0	0.001368	0	0
KRT25	147183	broad.mit.edu	37	17	38907543	38907544	+	Missense_Mutation	DNP	GT	CA	CA			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:38907543_38907544GT>CA	uc002hve.3	-	3	765_766	c.704_705AC>TG	c.(703-705)aac>aTG	p.N235M		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	235	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCACGTTCACGTTGCCTCCAGC	0.545000														36			10		0	0	0.004672	0	0
ANK3	288	broad.mit.edu	37	10	61831288	61831288	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:61831288G>A	uc001jky.3	-	36	9689	c.9351C>T	c.(9349-9351)atC>atT	p.I3117I	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3117			I -> V (in dbSNP:rs28932171).		establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTGACTTATGATTTTTTTTA	0.403000														119			41		0	0	0.008740	0	0
AK302694	0	broad.mit.edu	37	10	30998303	30998303	+	Silent	SNP	C	T	T	rs113012238	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:30998303C>T	uc010qdx.1	+	7	1391	c.849C>T	c.(847-849)ttC>ttT	p.F283F						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		CCACGGAGTTCGTGTACCCTG	0.587000														46			20		0	0	0.002299	0	0
SLX4	84464	broad.mit.edu	37	16	3639611	3639611	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:3639611G>A	uc002cvp.2	-	11	4655	c.4028C>T	c.(4027-4029)cCt>cTt	p.P1343L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1343	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGGACGGGAAGGGCTTCTGTG	0.662000								Direct reversal of damage						125			34		0	0	0.003755	0	0
RPIA	22934	broad.mit.edu	37	2	89049589	89049589	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:89049589C>T	uc002ste.3	+	8	971	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_144563	NP_653164	P49247	RPIA_HUMAN	Homo sapiens ribose 5-phosphate isomerase A (RPIA), mRNA.	310					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				AGAAGCCTTTCTGTTGACCCT	0.532000														49			17		0	0	0.008871	0	0
OR8H3	390152	broad.mit.edu	37	11	55890498	55890498	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:55890498C>T	uc001nii.1	+	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A216S(1)		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)					ATATCTGCATCCTATGTGTCC	0.433000														98			12		0	0	0.001368	0	0
GYS2	2998	broad.mit.edu	37	12	21733319	21733319	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:21733319G>A	uc001rfb.3	-	1	515	c.260C>T	c.(259-261)gCt>gTt	p.A87V		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	87					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTTCTGACAGCATCATTTAC	0.413000														176			60		0	0	0.003610	0	0
OPHN1	4983	broad.mit.edu	37	X	67283898	67283898	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:67283898G>A	uc004dww.4	-	20	2250	c.1956C>T	c.(1954-1956)tcC>tcT	p.S652S	OPHN1_uc011mpg.2_Intron	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	652	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GCCTGCTTGGGGACTTCCTCC	0.562000														29			40		0	0	0.006999	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066510	46066510	+	Silent	SNP	G	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:46066510G>T	uc002zfr.4	+	0	180	c.135G>T	c.(133-135)ctG>ctT	p.L45L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	45	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCCTGAGCCTGGTCTGCACCC	0.701000														45			15		1.3612e-06	1.90812e-06	0.003163	1	0
CNTN4	152330	broad.mit.edu	37	3	3078995	3078995	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:3078995G>A	uc003bpc.3	+	17	2414	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q	CNTN4_uc003bpb.1_Missense_Mutation_p.R363Q|CNTN4_uc021wsg.1_Missense_Mutation_p.R692Q|CNTN4_uc003bpd.1_Missense_Mutation_p.R692Q|CNTN4_uc003bpe.3_Missense_Mutation_p.R364Q|CNTN4_uc003bpf.3_Missense_Mutation_p.R363Q|CNTN4_uc003bpg.3_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	692	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCAGAGAAACGGAGAACAGAA	0.522000														187			45		0	0	0.003610	0	0
FATE1	89885	broad.mit.edu	37	X	150889904	150889904	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:150889904C>T	uc004fex.3	+	2	356	c.272C>T	c.(271-273)tCa>tTa	p.S91L		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	91						endoplasmic reticulum|integral to membrane		p.S91A(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGAGAATCAGGCCATGGG	0.542000														28			22		0	0	0.004656	0	0
PVRL1	5818	broad.mit.edu	37	11	119545951	119545951	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:119545951G>A	uc001pwv.3	-	4	1093	c.921C>T	c.(919-921)aaC>aaT	p.N307N	PVRL1_uc001pwu.1_Silent_p.N307N|PVRL1_uc001pww.3_Silent_p.N307N	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	307	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCAGGCTGTAGTTGATGGGTC	0.572000														73			24		0	0	0.002780	0	0
ITK	3702	broad.mit.edu	37	5	156675899	156675899	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:156675899C>T	uc003lwo.1	+	15	1755	c.1673C>T	c.(1672-1674)cCg>cTg	p.P558L		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	558	Protein kinase.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCAAAATCCCGTATGAAAAC	0.493000			T	SYK	peripheral T-cell lymphoma									248			121		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9048071	9048071	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:9048071G>A	uc002mkp.3	-	4	33764	c.33560C>T	c.(33559-33561)tCt>tTt	p.S11187F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11189	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTGCCTCAGAATGGGTGAC	0.458000														22			20		0	0	0.001882	0	0
ATG13	9776	broad.mit.edu	37	11	46689398	46689398	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:46689398C>T	uc001nda.3	+	13	1840	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	ATG13_uc009yld.3_Silent_p.V371V|ATG13_uc001ndb.3_Silent_p.V371V|ATG13_uc001ncz.3_Silent_p.V334V|ATG13_uc001ndc.3_Silent_p.V334V|ATG13_uc010rgv.2_Silent_p.V255V	NM_001205119	NP_001192048	O75143	ATG13_HUMAN	Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA.	371					autophagic vacuole assembly	ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CCATCTTTGTCCGAAAAGTGG	0.493000														46			16		0	0	0.004990	0	0
KCNH2	3757	broad.mit.edu	37	7	150648537	150648537	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:150648537G>A	uc003wic.3	-	7	2346	c.1945_splice	c.e7+1	p.S649_splice	KCNH2_uc003wib.3_Splice_Site_p.S309_splice|KCNH2_uc011kux.2_Splice_Site_p.S553_splice|KCNH2_uc003wid.3_Splice_Site_p.S309_splice|KCNH2_uc003wie.3_Splice_Site_p.S649_splice	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	649					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CACACTCACAGCCAATGAGCA	0.612000														106			42		0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457751	110457751	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:110457751C>T	uc003yne.3	+	37	5757	c.5653C>T	c.(5653-5655)Ccc>Tcc	p.P1885S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1885	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.R1885H(1)|p.C1884Y(1)		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)			CTGCCGCACTCCCGCTGGGAC	0.433000										HNSCC(38;0.096)				34			6		0	0	0.001168	0	0
CHL1	10752	broad.mit.edu	37	3	424225	424225	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:424225G>A	uc003bot.3	+	17	2689	c.2047G>A	c.(2047-2049)Gga>Aga	p.G683R	CHL1_uc003bou.3_Missense_Mutation_p.G667R|CHL1_uc003bow.2_Missense_Mutation_p.G667R|CHL1_uc011asi.2_Missense_Mutation_p.G683R|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	667	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAGTCCAAGGAAAGAAAAC	0.433000														86			33		0	0	0.002445	0	0
RBP3	5949	broad.mit.edu	37	10	48390452	48390452	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:48390452C>T	uc001jez.3	-	0	540	c.426G>A	c.(424-426)gaG>gaA	p.E142E		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	142	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGCTCAGCACCTCCTGGCCCG	0.642000														80			33		0	0	0.003271	0	0
LRIF1	55791	broad.mit.edu	37	1	111490704	111490704	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:111490704G>A	uc001eaa.3	-	3	2443	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	LRIF1_uc001dzz.3_Silent_p.F193F|LRIF1_uc001eab.3_Silent_p.F193F	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.F729F(2)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GTGTCACTGGGAAAATATCTT	0.368000														129			57		0	0	0.003610	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26671537	26671537	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:26671537C>T	uc002hax.2	+	6	881	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	TNFAIP1_uc002hay.3_Silent_p.L288L|TNFAIP1_uc010waf.2_Silent_p.L184L	NM_021137	NP_066960	Q13829	BACD2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 1 (endothelial) (TNFAIP1), mRNA.	288					DNA replication|apoptosis|cell migration|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GACCTTTGAACTGCGGGACCG	0.617000														51			11		0	0	0.001368	0	0
LAG3	3902	broad.mit.edu	37	12	6886536	6886536	+	Silent	SNP	A	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:6886536A>G	uc001qqt.4	+	5	1513	c.1164A>G	c.(1162-1164)ccA>ccG	p.P388P	LAG3_uc001qqu.3_Silent_p.P218P	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	388	Ig-like C2-type 3.					integral to membrane	MHC class II protein binding|antigen binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGGACACCCCATCCCAGAGGA	0.577000														102			47		0	0	0.003610	0	0
FAM40A	85369	broad.mit.edu	37	1	110593614	110593614	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:110593614C>T	uc001dza.1	+	18	2012	c.1993C>T	c.(1993-1995)Ctc>Ttc	p.L665F	FAM40A_uc001dyz.1_Missense_Mutation_p.L570F|FAM40A_uc009wfp.1_Missense_Mutation_p.L489F	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	665						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CTGGAGGAACCTCTTTTCTTG	0.473000														49			24		0	0	0.003954	0	0
NSD1	64324	broad.mit.edu	37	5	176638794	176638795	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:176638794_176638795GG>AA	uc003mfr.4	+	4	3532_3533	c.3394_3395GG>AA	c.(3394-3396)gga>AAa	p.G1132K	NSD1_uc003mft.4_Missense_Mutation_p.G863K|NSD1_uc003mfs.1_Missense_Mutation_p.G1029K|NSD1_uc011dfx.2_Missense_Mutation_p.G780K	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1132					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)		TTTTGAAAACGGAAAAGGCCCA	0.406000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				35			5		0	0	0.004672	0	0
HMGB4	127540	broad.mit.edu	37	1	34329957	34329957	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:34329957T>G	uc021oky.1	+	0	165	c.165T>G	c.(163-165)caT>caG	p.H55Q	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.H55Q|HMGB4_uc001bxq.3_5'UTR	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	55						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCTCAAAGCATGAAAAGGCCA	0.423000														87			50		0	0	0.003610	0	0
OSR1	130497	broad.mit.edu	37	2	19553205	19553205	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:19553205T>C	uc002rdc.3	-	1	665	c.362A>G	c.(361-363)aAc>aGc	p.N121S		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	Homo sapiens odd-skipped related 1 (Drosophila) (OSR1), mRNA.	121					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CAAGGCCAGGTTGGCAAAATC	0.642000														67			31		0	0	0.008361	0	0
DOPEY2	9980	broad.mit.edu	37	21	37623467	37623467	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:37623467G>A	uc002yvg.3	+	21	5085	c.5006G>A	c.(5005-5007)aGa>aAa	p.R1669K	DOPEY2_uc011aeb.2_Missense_Mutation_p.R1618K|DOPEY2_uc002yvh.3_Missense_Mutation_p.R520K	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1669					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TAGACCATAAGACAAAAAATT	0.453000														98			17		0	0	0.006122	0	0
CYP2C19	1557	broad.mit.edu	37	10	96454814	96454814	+	Silent	SNP	C	T	T	rs11188057		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:96454814C>T	uc001kjv.4	+	3	948	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	CYP2C19_uc001kjw.4_Silent_p.L208L|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	208					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CCTCAGGATTCTGAGCTCTCC	0.323000														27			13		0	0	0.001368	0	0
LARS2	23395	broad.mit.edu	37	3	45589003	45589004	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:45589003_45589004AC>TT	uc003cop.1	+	21	2878_2879	c.2693_2694AC>TT	c.(2692-2694)aac>aTT	p.N898I	LARS2_uc010hit.1_Missense_Mutation_p.N855I	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	898					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GCCCTCATCAACTTCCTGGTGC	0.559000														108			31		0	0	0.004672	0	0
STK10	6793	broad.mit.edu	37	5	171533651	171533651	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:171533651G>T	uc003mbo.1	-	5	1061	c.761C>A	c.(760-762)cCt>cAt	p.P254H		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	254	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGCGTGGGAGGGTCCGACTT	0.657000											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			9		6.40141e-05	8.94346e-05	0.000978	1	0
abParts	0	broad.mit.edu	37	14	106733175	106733175	+	RNA	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:106733175G>A	uc021ser.1	-	876		c.21371C>T								Parts of antibodies, mostly variable regions.																		CGTGTCCTCAGATCTCAGGCT	0.532000														323			93		0	0	0.003610	0	0
COL12A1	1303	broad.mit.edu	37	6	75844525	75844525	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:75844525T>C	uc021zbv.1	-	30	5476	c.5441A>G	c.(5440-5442)aAg>aGg	p.K1814R	COL12A1_uc021zbw.1_Missense_Mutation_p.K650R|COL12A1_uc003phs.3_Missense_Mutation_p.K1814R|COL12A1_uc003pht.3_Missense_Mutation_p.K650R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1814	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGTGTCTGGCTTCAGTTTCTG	0.493000														61			67		0	0	0.003610	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39177470	39177470	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:39177470G>A	uc004abi.3	-	5	1011	c.772C>T	c.(772-774)Cct>Tct	p.P258S	CNTNAP3_uc004abj.3_Missense_Mutation_p.P258S|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.P258S|CNTNAP3_uc011lqs.1_Missense_Mutation_p.P258S	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	258	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGGGTCACAGGAGCAATAGTG	0.498000														47			31		0	0	0.002836	0	0
BTN2A1	11120	broad.mit.edu	37	6	26460007	26460007	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:26460007C>T	uc003nib.2	+	2	629	c.381C>T	c.(379-381)ttC>ttT	p.F127F	BTN2A1_uc021yni.1_Silent_p.F127F|BTN2A1_uc003nic.2_Silent_p.F127F|BTN2A1_uc011dko.2_Silent_p.F66F	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	127	Ig-like V-type.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GCTGTTACTTCCAAGAAGGCA	0.537000														33			25		0	0	0.003954	0	0
OR7G1	125962	broad.mit.edu	37	19	9226256	9226256	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:9226256G>A	uc021uoi.1	-	0	184	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	OR7G1_uc002mks.1_Missense_Mutation_p.L62F	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TTAAAGAGAAGGAAGTACATG	0.488000														64			44		0	0	0.003214	0	0
CDYL2	124359	broad.mit.edu	37	16	80638393	80638393	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:80638393C>T	uc002ffs.3	-	6	1518	c.1413G>A	c.(1411-1413)ctG>ctA	p.L471L		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	471						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCACGTCTTCCAGCACTGATT	0.527000														118			27		0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179410659	179410659	+	Silent	SNP	G	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:179410659G>T	uc021vsy.1	-	291	87825	c.87600C>A	c.(87598-87600)gtC>gtA	p.V29200V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V22895V|TTN_uc021vta.1_Silent_p.V22828V|TTN_uc021vtb.1_Silent_p.V22703V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30127	Fibronectin type-III 113.						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)			GCCTGGTAACGACATAGGATA	0.488000														64			26		1.85244e-09	2.6113e-09	0.003330	1	0
MATN3	4148	broad.mit.edu	37	2	20205776	20205776	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:20205776G>A	uc002rdl.3	-	1	582	c.519C>T	c.(517-519)gcC>gcT	p.A173A	MATN3_uc010exu.1_Silent_p.A173A	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	173	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACTGTGAAGGCTTCGTCCA	0.567000														46			17		0	0	0.001882	0	0
LILRB1	10859	broad.mit.edu	37	19	55144687	55144687	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:55144687G>A	uc002qgj.3	+	7	1519	c.1179G>A	c.(1177-1179)ggG>ggA	p.G393G	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.G393G|LILRB1_uc002qgk.3_Silent_p.G393G|LILRB1_uc002qgm.3_Silent_p.G393G|LILRB1_uc010erq.3_Silent_p.G393G|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	393	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.A392A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCATGCGGGGACCTACAGGT	0.592000										HNSCC(37;0.09)				57			15		0	0	0.002096	0	0
EGR2	1959	broad.mit.edu	37	10	64573365	64573365	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:64573365C>T	uc010qio.2	-	2	1092	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	EGR2_uc010qim.2_Missense_Mutation_p.E345K|EGR2_uc010qin.2_Missense_Mutation_p.E295K|EGR2_uc001jmi.3_Missense_Mutation_p.E345K|EGR2_uc009xph.3_Missense_Mutation_p.E345K	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	345					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.E345Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCGCAGCCTTCTGCTGGGCAC	0.642000														76			21		0	0	0.002299	0	0
GPR161	23432	broad.mit.edu	37	1	168065816	168065816	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:168065816C>T	uc010pln.2	-	3	1623	c.1089G>A	c.(1087-1089)cgG>cgA	p.R363R	GPR161_uc001gfb.3_Silent_p.R211R|GPR161_uc001gfc.3_Silent_p.R343R|GPR161_uc010pll.2_Silent_p.R253R|GPR161_uc010plm.2_Silent_p.R229R|GPR161_uc009wvo.3_Silent_p.R360R|GPR161_uc001gfd.3_Silent_p.R343R|GPR161_uc001gfe.1_Silent_p.R343R	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	343					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCGATAATACCGGTCCCCAA	0.522000														51			26		0	0	0.004656	0	0
FAAH2	158584	broad.mit.edu	37	X	57473467	57473467	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:57473467C>T	uc004dvc.3	+	8	1372	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	408						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	p.S408S(1)|p.S408T(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ACCATCCCTTCCATTGGTATG	0.398000										HNSCC(52;0.14)				10			11		0	0	0.008291	0	0
CAMK1D	57118	broad.mit.edu	37	10	12802951	12802951	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:12802951T>A	uc001ilo.3	+	3	539	c.304T>A	c.(304-306)Tcc>Acc	p.S102T	CAMK1D_uc001iln.3_Missense_Mutation_p.S102T	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	102	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TGCCAGGGTGTCCGGTGGAGA	0.433000														194			109		0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	A	A	rs28934573		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:7577559G>A	uc002gim.2	-	6	916	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_uc002gig.1_Missense_Mutation_p.S241F|TP53_uc002gih.3_Missense_Mutation_p.S241F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.S109F|TP53_uc010cnf.1_Missense_Mutation_p.S109F|TP53_uc002gii.1_Missense_Mutation_p.S109F|TP53_uc010cni.1_Missense_Mutation_p.S241F|TP53_uc010cnh.1_Missense_Mutation_p.S241F|TP53_uc002gij.2_Missense_Mutation_p.S241F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S148F|TP53_uc002gio.2_Missense_Mutation_p.S109F|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*23(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)		GCCCATGCAGGAACTGTTACA	0.572000		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)				49			42		0	0	0.003610	0	0
WISP2	8839	broad.mit.edu	37	20	43353579	43353579	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:43353579G>A	uc002xmp.3	+	2	625	c.478G>A	c.(478-480)Gag>Aag	p.E160K	LOC79015_uc002xml.1_Intron|WISP2_uc002xmq.3_Intron	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	160	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GTGCTGCCCTGAGTGGGTGTG	0.716000														21			8		0	0	0.000978	0	0
PHF2	5253	broad.mit.edu	37	9	96428317	96428317	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:96428317C>T	uc004aub.3	+	15	2309	c.2162C>T	c.(2161-2163)cCa>cTa	p.P721L	PHF2_uc011lug.1_Missense_Mutation_p.P604L|PHF2_uc004auc.3_Missense_Mutation_p.P140L	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	721					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GTCACGAAGCCAAAGCTGGAC	0.622000														29			19		0	0	0.001882	0	0
UNC79	57578	broad.mit.edu	37	14	94038393	94038393	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:94038393C>T	uc001ybv.1	+	11	1461	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S	UNC79_uc001ybs.1_Missense_Mutation_p.P460S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	637						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AACAGAAGTCCCAGATAATCA	0.398000														26			14		0	0	0.004990	0	0
B3GNT7	93010	broad.mit.edu	37	2	232262827	232262827	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:232262827G>A	uc002vrs.3	+	1	577	c.397G>A	c.(397-399)Gat>Aat	p.D133N		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	133					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.D133N(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GTGCAGGGGCGATGTCTACCT	0.662000														31			13		0	0	0.001368	0	0
ADTRP	84830	broad.mit.edu	37	6	11768493	11768493	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:11768493G>A	uc011dip.2	-	2	619	c.331C>T	c.(331-333)Cct>Tct	p.P111S	ADTRP_uc003nab.3_Missense_Mutation_p.P93S	NM_001143948	NP_001137420	Q96IZ2	CF105_HUMAN	Homo sapiens chromosome 6 open reading frame 105 (C6orf105), transcript variant 1, mRNA.	93						integral to membrane											GTGGATACAGGAAAAGCCAGA	0.468000														50			42		0	0	0.002852	0	0
ITGAD	3681	broad.mit.edu	37	16	31437362	31437362	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:31437362G>A	uc010cap.1	+	29	3451	c.3402G>A	c.(3400-3402)aaG>aaA	p.K1134K	ITGAD_uc002ebv.1_Silent_p.K1133K	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	1133					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCACTACAAGGAAATGCTGG	0.498000														29			10		0	0	0.002450	0	0
MMP26	56547	broad.mit.edu	37	11	5013258	5013258	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5013258G>A	uc001lzv.3	+	4	678	c.660G>A	c.(658-660)ggG>ggA	p.G220G		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	220					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGCACTCTGGGAATCAGAGCT	0.418000														31			19		0	0	0.002299	0	0
RBM11	54033	broad.mit.edu	37	21	15592040	15592040	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:15592040C>T	uc002yjo.4	+	1	295	c.253C>T	c.(253-255)Cga>Tga	p.R85*	RBM11_uc002yjn.4_5'UTR|RBM11_uc002yjp.4_Intron	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	85	RRM.						RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CGTGCAGTATCGATTTGGTAG	0.373000														23			9		0	0	0.008291	0	0
RET	5979	broad.mit.edu	37	10	43595906	43595906	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:43595906G>A	uc001jal.3	+	2	264	c.74_splice	c.e2-1	p.V25_splice	RET_uc001jak.1_Splice_Site_p.V25_splice	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	25					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACTTCCCACAGTGGCATTGGG	0.488000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					43			23		0	0	0.005443	0	0
MARCO	8685	broad.mit.edu	37	2	119735507	119735508	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:119735507_119735508CC>TT	uc002tln.1	+	7	894_895	c.762_763CC>TT	c.(760-765)ctccca>ctTTca	p.P255S	MARCO_uc010yyf.1_Missense_Mutation_p.P177S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	255	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACCTGGGTCTCCCAGGTGAGGG	0.604000														15			4		0	0	0.004672	0	0
CDC27	996	broad.mit.edu	37	17	45232057	45232057	+	Missense_Mutation	SNP	G	A	A	rs150116111		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:45232057G>A	uc002ile.4	-	7	1065	c.938C>T	c.(937-939)aCc>aTc	p.T313I	CDC27_uc002ild.4_Missense_Mutation_p.T313I|CDC27_uc002ilf.4_Missense_Mutation_p.T313I|CDC27_uc010wkp.2_Missense_Mutation_p.T252I|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	313					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGGGGCTCCGGTGGATGGCAC	0.378000														17			9		0	0	0.008291	0	0
CD86	942	broad.mit.edu	37	3	121828111	121828111	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:121828111G>A	uc003eet.3	+	5	832	c.704_splice	c.e5-1	p.E235_splice	CD86_uc011bjo.2_Splice_Site_p.E153_splice|CD86_uc011bjp.2_Splice_Site_p.E123_splice|CD86_uc003eeu.3_Splice_Site_p.E229_splice|CD86_uc021xcz.1_Intron	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	235					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GTCATTTGTAGAGCTTGAGGA	0.443000														50			15		0	0	0.003163	0	0
CCNA1	8900	broad.mit.edu	37	13	37012209	37012209	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:37012209C>T	uc001uvr.4	+	3	900	c.550C>T	c.(550-552)Cct>Tct	p.P184S	CCNA1_uc010teo.2_Missense_Mutation_p.P140S|CCNA1_uc010abq.3_Missense_Mutation_p.P140S|CCNA1_uc010abp.3_Missense_Mutation_p.P140S|CCNA1_uc001uvs.4_Missense_Mutation_p.P183S|CCNA1_uc010abr.3_Intron	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	184					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGCAGTTTCCCCTATGCTGGT	0.373000														144			45		0	0	0.003610	0	0
KCNH4	23415	broad.mit.edu	37	17	40323852	40323852	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:40323852G>A	uc002hzb.2	-	6	1482	c.1149C>T	c.(1147-1149)atC>atT	p.I383I		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	383					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCCGGCGCCCGATGACATACC	0.612000														61			31		0	0	0.002836	0	0
ADD2	119	broad.mit.edu	37	2	70923506	70923506	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:70923506G>A	uc021vjc.1	-	4	610	c.345C>T	c.(343-345)atC>atT	p.I115I	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.I115I|ADD2_uc002sgz.3_Silent_p.I115I|ADD2_uc010fdt.2_Silent_p.I115I|ADD2_uc002shc.2_Silent_p.I115I|ADD2_uc010fdu.2_Silent_p.I131I	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	115					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGAGGTCATTGATAGGCGTCA	0.572000														29			14		0	0	0.004007	0	0
PAM	5066	broad.mit.edu	37	5	102310099	102310099	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:102310099C>T	uc003knt.3	+	13	1815	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	PAM_uc003knw.3_Missense_Mutation_p.P481L|PAM_uc003kns.3_Intron|PAM_uc003knu.3_Missense_Mutation_p.P481L|PAM_uc011cuz.2_Missense_Mutation_p.P384L|PAM_uc003knv.3_Missense_Mutation_p.P481L|PAM_uc003knx.1_Intron|PAM_uc003kny.1_Non-coding_Transcript	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	481	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTACAGCAGCCCCCACCTGGT	0.468000														69			19		0	0	0.002299	0	0
OR8D4	338662	broad.mit.edu	37	11	123777788	123777788	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:123777788C>T	uc010saa.2	+	0	650	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ATCATTATTTCATATGCTTTT	0.428000														84			32		0	0	0.002445	0	0
METTL16	79066	broad.mit.edu	37	17	2323535	2323535	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:2323535C>A	uc002fut.3	-	9	1566	c.1418G>T	c.(1417-1419)gGg>gTg	p.G473V	METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Intron|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_Missense_Mutation_p.G255V	NM_024086	NP_076991	Q86W50	MET16_HUMAN	Homo sapiens methyltransferase like 16 (METTL16), mRNA.	473							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						AACCTCCACCCCTCCCTTTTC	0.612000														146			43		5.34276e-22	7.63424e-22	0.003610	1	0
SCN2A	6326	broad.mit.edu	37	2	166246326	166246326	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:166246326A>G	uc002udc.3	+	26	6300	c.6010A>G	c.(6010-6012)Aaa>Gaa	p.K2004E	SCN2A_uc002udd.3_Missense_Mutation_p.K2004E|SCN2A_uc002ude.3_Missense_Mutation_p.K2004E|SCN2A_uc021vry.1_Missense_Mutation_p.K504E	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	2004					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CAGGGAAAGTAAAAAGTAAAA	0.378000														18			10		0	0	0.006214	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279124	105279124	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:105279124C>T	uc010npd.3	-	1	1110	c.875G>A	c.(874-876)tGg>tAg	p.W292*	SERPINA7_uc004eme.2_Nonsense_Mutation_p.W292*|SERPINA7_uc010npe.2_Nonsense_Mutation_p.W292*	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	292					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TAAGCGGTTCCACTTCTTCAG	0.493000														78			72		0	0	0.003610	0	0
PRDX6	9588	broad.mit.edu	37	1	173455410	173455410	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:173455410C>T	uc001giy.1	+	3	467	c.416C>T	c.(415-417)cCt>cTt	p.P139L		NM_004905	NP_004896	P30041	PRDX6_HUMAN	Homo sapiens peroxiredoxin 6 (PRDX6), mRNA.	139	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						GTTTTTGGTCCTGATAAGAAG	0.428000														179			53		0	0	0.003610	0	0
PLD2	5338	broad.mit.edu	37	17	4714154	4714154	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:4714154C>T	uc002fzc.3	+	9	1044	c.918C>T	c.(916-918)atC>atT	p.I306I	PLD2_uc010vsj.2_Silent_p.I163I|PLD2_uc002fzd.3_Silent_p.I306I	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	306	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCCAAGAGATCACTGAGCTGG	0.617000														71			13		0	0	0.001855	0	0
COL6A3	1293	broad.mit.edu	37	2	238275613	238275613	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:238275613C>T	uc002vwl.2	-	10	5502	c.5217G>A	c.(5215-5217)ctG>ctA	p.L1739L	COL6A3_uc002vwo.2_Silent_p.L1533L|COL6A3_uc010znj.1_Silent_p.L1132L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1739	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCGCTGGTCCAGGCGGCTGC	0.587000														38			21		0	0	0.002780	0	0
TBC1D14	57533	broad.mit.edu	37	4	7026970	7026970	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:7026970G>A	uc011bwg.2	+	12	2076	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	TBC1D14_uc003gjs.4_Missense_Mutation_p.R666Q|TBC1D14_uc010idh.3_Missense_Mutation_p.R386Q|TBC1D14_uc011bwh.2_Missense_Mutation_p.R313Q|TBC1D14_uc003gju.4_Missense_Mutation_p.R157Q	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	666						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ATGCAGAGCCGAAACAAGAAG	0.607000														37			11		0	0	0.000978	0	0
CCDC155	147872	broad.mit.edu	37	19	49912493	49912493	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:49912493G>A	uc002pnm.2	+	13	1304	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	CCDC155_uc010emx.2_Missense_Mutation_p.E340K	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	367						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GGGCTGGACCGAGCTGCTACC	0.617000														25			12		0	0	0.003163	0	0
VAV2	7410	broad.mit.edu	37	9	136650974	136650974	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:136650974C>A	uc004ces.3	-	16	1502	c.1456G>T	c.(1456-1458)Gga>Tga	p.G486*	VAV2_uc004cer.3_Nonsense_Mutation_p.G476*|VAV2_uc004cet.1_Nonsense_Mutation_p.G25*	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	486	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCCTGCTTTCCTTGAAGGTGA	0.537000														9			15		2.31682e-05	3.24046e-05	0.003163	1	0
PPFIA1	8500	broad.mit.edu	37	11	70208214	70208214	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:70208214G>A	uc001opo.3	+	19	2811	c.2596G>A	c.(2596-2598)Gag>Aag	p.E866K	PPFIA1_uc001opn.2_Missense_Mutation_p.E866K|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opr.3_5'UTR	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	866				E -> G (in Ref. 3; AAH34046).	cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAATTGCTGGAGGAAGCCCG	0.498000														79			30		0	0	0.002836	0	0
KLF10	7071	broad.mit.edu	37	8	103662565	103662565	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:103662565G>A	uc011lhk.1	-	3	1392	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	KLF10_uc011lhj.1_Missense_Mutation_p.S402F	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.	413					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CAGTTCATCAGAACGGGCAAA	0.468000														41			11		0	0	0.008291	0	0
C11orf82	220042	broad.mit.edu	37	11	82643115	82643115	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:82643115C>T	uc001ozt.3	+	5	979	c.735C>T	c.(733-735)ttC>ttT	p.F245F	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	245					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CACTTGAATTCACTTGCATTG	0.388000														80			34		0	0	0.003755	0	0
CACNG3	10368	broad.mit.edu	37	16	24268286	24268286	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:24268286G>A	uc002dmf.3	+	1	1413	c.211_splice	c.e1+1	p.G71_splice		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	71					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTGCCTAGAAGGTATTTACAA	0.428000														23			17		0	0	0.004990	0	0
COL11A1	1301	broad.mit.edu	37	1	103427818	103427818	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:103427818C>T	uc001dum.3	-	39	3382	c.3064G>A	c.(3064-3066)Gat>Aat	p.D1022N	COL11A1_uc001duk.3_Missense_Mutation_p.D206N|COL11A1_uc001dul.3_Missense_Mutation_p.D1010N|COL11A1_uc001dun.3_Missense_Mutation_p.D971N|COL11A1_uc009weh.3_Missense_Mutation_p.D894N	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1010	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCTGGATCACCCTAAAGA	0.388000														71			32		0	0	0.002836	0	0
TNXB	7148	broad.mit.edu	37	6	32053810	32053810	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:32053810G>A	uc003nzl.2	-	6	3067	c.2865C>T	c.(2863-2865)ctC>ctT	p.L955L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1042	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCTGCAGGAGAGGAGCCT	0.682000														315			79		0	0	0.003610	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120406	62120406	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:62120406C>T	uc002yfe.1	-	6	1295	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	377						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCAATCTTCTCCTTCAGCTCC	0.612000														52			29		0	0	0.005443	0	0
KANSL1	284058	broad.mit.edu	37	17	44128027	44128027	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:44128027G>A	uc002ikc.3	-	6	2363	c.1892C>T	c.(1891-1893)cCc>cTc	p.P631L	KANSL1_uc002ikd.3_Missense_Mutation_p.P631L|KANSL1_uc010dav.3_Missense_Mutation_p.P631L	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	631						MLL1 complex	protein binding										TGCGCAGGAGGGATTCACATC	0.498000														17			10		0	0	0.000978	0	0
ING2	3622	broad.mit.edu	37	4	184431571	184431571	+	Silent	SNP	T	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:184431571T>A	uc003ivs.1	+	1	438	c.309T>A	c.(307-309)atT>atA	p.I103I	ING2_uc011ckk.1_Silent_p.I63I	NM_001564	NP_001555	Q9H160	ING2_HUMAN	Homo sapiens inhibitor of growth family, member 2 (ING2), mRNA.	103					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	DNA binding|chromatin binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAATACAGATTGTTACACAAA	0.388000														103			47		0	0	0.002852	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723892	38723892	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:38723892C>T	uc001wum.1	-	0	1683	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	446						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGCTCAGGATCACTCTCCAGG	0.582000														71			20		0	0	0.001882	0	0
SCN1A	6323	broad.mit.edu	37	2	166903433	166903433	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:166903433G>A	uc002udo.4	-	10	1451	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	SCN1A_uc010fpk.3_Silent_p.F408F|SCN1A_uc021vsb.1_Silent_p.F408F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	408						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATGAGCCCAAGAAAATGACCA	0.393000														53			30		0	0	0.002445	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551693	1551693	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:1551693C>T	uc010gai.3	-	3	941	c.842G>A	c.(841-843)gGa>gAa	p.G281E	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	281	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CAGCTGTAGTCCCCGGGGGTA	0.542000														57			19		0	0	0.007413	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570479	22570479	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:22570479G>A	uc003nds.3	+	0	802	c.675G>A	c.(673-675)cgG>cgA	p.R225R		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	225	Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					AGGAGCTCCGGGAGGAAGAAG	0.682000														12			14		0	0	0.004990	0	0
NME8	51314	broad.mit.edu	37	7	37936583	37936583	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:37936583C>T	uc003tfn.3	+	16	2028	c.1656C>T	c.(1654-1656)atC>atT	p.I552I		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	552	NDK 3.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CTGACTCCATCCGAGCCCAGT	0.438000														65			23		0	0	0.001882	0	0
C9orf43	257169	broad.mit.edu	37	9	116185748	116185748	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:116185748C>T	uc004bhp.3	+	6	1072	c.626C>T	c.(625-627)tCc>tTc	p.S209F	C9orf43_uc004bho.4_Missense_Mutation_p.S209F	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA.	209										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGGGCTCAATCCGAAGCGTTA	0.502000														36			25		0	0	0.005443	0	0
GPR68	8111	broad.mit.edu	37	14	91701088	91701088	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:91701088C>T	uc021ryk.1	-	0	307	c.307G>A	c.(307-309)Gag>Aag	p.E103K	GPR68_uc001xzg.3_Missense_Mutation_p.E103K|GPR68_uc001xzh.3_Missense_Mutation_p.E103K	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	103					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TAGATGTTCTCGTACAGGAGG	0.612000														24			9		0	0	0.006214	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924223	43924223	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:43924223C>T	uc010wka.2	+	0	1968	c.1951C>T	c.(1951-1953)Cat>Tat	p.H651Y	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	651						integral to membrane	aspartic-type endopeptidase activity										GGGCCATGTCCATGCCCAGGC	0.642000														44			31		0	0	0.008361	0	0
FBLN2	2199	broad.mit.edu	37	3	13613099	13613099	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:13613099C>T	uc011avc.2	+	1	1626	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	FBLN2_uc011auz.2_Missense_Mutation_p.S441F|FBLN2_uc011avb.2_Missense_Mutation_p.S415F|FBLN2_uc011ava.2_Missense_Mutation_p.S415F	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	415	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTGCCCCATTCCCACGTGGAG	0.582000														26			8		0	0	0.006214	0	0
RSRC1	51319	broad.mit.edu	37	3	158262013	158262013	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:158262013G>A	uc003fbt.3	+	9	1065	c.954G>A	c.(952-954)aaG>aaA	p.K318K	RSRC1_uc003fbv.3_Silent_p.K260K	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	318					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AATGGTTCAAGAGATTAATTG	0.348000														101			41		0	0	0.003610	0	0
LRRC66	339977	broad.mit.edu	37	4	52862289	52862289	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:52862289G>A	uc003gzi.3	-	3	906	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	300						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGTTTCCCTGGAAATCCTGCT	0.522000														70			24		0	0	0.007291	0	0
FCRL3	115352	broad.mit.edu	37	1	157667200	157667200	+	Missense_Mutation	SNP	G	A	A	rs138227125		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:157667200G>A	uc001fqz.4	-	5	866	c.574C>T	c.(574-576)Cct>Tct	p.P192S	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Intron|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.P192S|FCRL3_uc001frc.1_Missense_Mutation_p.P192S	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	192	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTCAGCACAGGATGTAGAAAC	0.532000														60			25		0	0	0.005443	0	0
GLYR1	84656	broad.mit.edu	37	16	4872923	4872923	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:4872923C>T	uc002cxx.4	-	6	671	c.634G>A	c.(634-636)Gat>Aat	p.D212N	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.D143N|GLYR1_uc002cya.2_Missense_Mutation_p.D212N|GLYR1_uc010uxv.1_Missense_Mutation_p.D131N	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	212					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GGATCTGCATCTTTAACAGGC	0.493000														73			39		0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152277516	152277516	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:152277516G>A	uc001ezu.1	-	2	9882	c.9846C>T	c.(9844-9846)tcC>tcT	p.S3282S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3282	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCACCAGAGGAAGTCTCTG	0.597000									Ichthyosis					390			168		0	0	0.003610	0	0
DPRX	503834	broad.mit.edu	37	19	54137815	54137815	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:54137815G>A	uc002qcf.1	+	1	110	c.59G>A	c.(58-60)cGa>cAa	p.R20Q		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACAGGAAACGAACCATGTTC	0.433000														60			40		0	0	0.002522	0	0
RAB7L1	8934	broad.mit.edu	37	1	205740632	205740632	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:205740632C>T	uc001hdf.4	-	3	686	c.346G>A	c.(346-348)Gag>Aag	p.E116K	RAB7L1_uc009xbp.3_Missense_Mutation_p.E44K|RAB7L1_uc001hde.4_Missense_Mutation_p.E116K|RAB7L1_uc010prr.2_Missense_Mutation_p.E92K|RAB7L1_uc009xbq.3_Intron	NM_003929	NP_001129136	O14966	RAB7L_HUMAN	Homo sapiens RAB7, member RAS oncogene family-like 1 (RAB7L1), transcript variant 1, mRNA.	116					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGCACCGGCTCTCCATTGGGT	0.493000														270			114		0	0	0.003610	0	0
ROBO3	64221	broad.mit.edu	37	11	124739925	124739925	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:124739925G>A	uc001qbc.3	+	3	896	c.727G>A	c.(727-729)Gga>Aga	p.G243R		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	243	Ig-like C2-type 2.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CAACATGGCGGGAGAACGGGA	0.522000														29			9		0	0	0.006214	0	0
CDRT1	374286	broad.mit.edu	37	17	15539401	15539401	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:15539401C>T	uc002gor.1	-	2	1135	c.798G>A	c.(796-798)aaG>aaA	p.K266K	CDRT1_uc002gow.3_Silent_p.K50K|CDRT1_uc002gox.3_Silent_p.K266K|CDRT1_uc002goy.3_Silent_p.K136K			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	0										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CCAGCTCCTGCTTGCTCTTCT	0.592000														65			13		0	0	0.003163	0	0
CR1L	1379	broad.mit.edu	37	1	207851610	207851610	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:207851610C>T	uc001hga.4	+	2	466	c.345C>T	c.(343-345)ttC>ttT	p.F115F	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	115	Sushi 2.					cytoplasm|extracellular region|membrane		p.F115F(1)|p.F123F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACATCCAGTTCAGATCCCAAA	0.408000														67			36		0	0	0.006230	0	0
MKS1	54903	broad.mit.edu	37	17	56291736	56291736	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:56291736G>A	uc002ivr.2	-	5	603	c.528C>T	c.(526-528)atC>atT	p.I176I	MKS1_uc010wnq.2_5'UTR|MKS1_uc021uam.1_Silent_p.I166I	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	176					cilium assembly	centrosome|cilium|microtubule basal body	protein binding	p.I176I(3)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTGACTTGAGGATGCCGCCCT	0.557000														57			10		0	0	0.008291	0	0
HDAC9	9734	broad.mit.edu	37	7	18674361	18674361	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:18674361C>T	uc003sui.3	+	6	949	c.908C>T	c.(907-909)gCc>gTc	p.A303V	HDAC9_uc003sue.3_Missense_Mutation_p.A300V|HDAC9_uc011jyd.2_Missense_Mutation_p.A300V|HDAC9_uc003suh.3_Missense_Mutation_p.A300V|HDAC9_uc003suj.3_Missense_Mutation_p.A259V|HDAC9_uc011jya.2_Missense_Mutation_p.A298V|HDAC9_uc003sua.1_Missense_Mutation_p.A278V|HDAC9_uc003sud.2_Missense_Mutation_p.A300V|HDAC9_uc011jyc.2_Missense_Mutation_p.A259V|HDAC9_uc011jyb.2_Missense_Mutation_p.A256V|HDAC9_uc003suf.2_Missense_Mutation_p.A331V|HDAC9_uc010kud.2_Missense_Mutation_p.A303V|HDAC9_uc011jye.2_Missense_Mutation_p.A272V|HDAC9_uc011jyf.2_Missense_Mutation_p.A223V|HDAC9_uc010kue.1_Missense_Mutation_p.A43V	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	300	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACCCCTCATGCCGAGGTAAGA	0.408000														6			6		0	0	0.004482	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203839116	203839116	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:203839116C>T	uc002uzo.2	+	11	1671	c.1391C>T	c.(1390-1392)tCt>tTt	p.S464F	ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Missense_Mutation_p.S388F|ALS2CR8_uc010zib.1_Missense_Mutation_p.S388F|ALS2CR8_uc010zic.1_Missense_Mutation_p.S376F|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S464F	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	464										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						CATAATTTATCTTTTTTTCCA	0.318000														267			90		0	0	0.003610	0	0
TMEM175	84286	broad.mit.edu	37	4	946159	946159	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:946159C>T	uc003gbq.3	+	6	481	c.383C>T	c.(382-384)tCg>tTg	p.S128L	TMEM175_uc010ibl.1_Missense_Mutation_p.S128L|TMEM175_uc003gbp.1_Missense_Mutation_p.S46L|TMEM175_uc003gbs.3_Missense_Mutation_p.S11L|TMEM175_uc003gbt.3_Missense_Mutation_p.S11L|TMEM175_uc003gbr.3_Missense_Mutation_p.S46L	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	128						integral to membrane		p.S128L(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TAACAGTTTTCGTTAATGGTG	0.562000														157			59		0	0	0.003610	0	0
SQRDL	58472	broad.mit.edu	37	15	45981393	45981393	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:45981393C>T	uc001zvu.3	+	9	1466	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L	SQRDL_uc001zvv.3_Silent_p.L425L	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	425							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GATGCCTTTCCTGTATTGGAA	0.468000														82			29		0	0	0.008361	0	0
OR51I1	390063	broad.mit.edu	37	11	5462097	5462097	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5462097G>A	uc010qze.2	-	0	687	c.648C>T	c.(646-648)atC>atT	p.I216I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAAGCAGGATGAAAGTTG	0.458000														36			5		0	0	0.000602	0	0
NF2	4771	broad.mit.edu	37	22	30035088	30035088	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:30035088C>T	uc003age.4	+	2	693	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	NF2_uc003afy.4_Missense_Mutation_p.H84Y|NF2_uc003afz.4_Intron|NF2_uc003agf.4_Missense_Mutation_p.H84Y|NF2_uc003agb.4_Missense_Mutation_p.H7Y|NF2_uc003agc.4_Missense_Mutation_p.H46Y|NF2_uc003agd.4_Intron|NF2_uc003agg.4_Missense_Mutation_p.H84Y|NF2_uc003aga.4_Missense_Mutation_p.H42Y|NF2_uc003agh.4_Intron|NF2_uc003agi.4_Intron|NF2_uc003agj.4_Missense_Mutation_p.H84Y	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	84	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.H84_F100del(2)|p.H84fs*39(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGTACTGGATCATGATGTTTC	0.433000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2					43			35		0	0	0.003271	0	0
OR1G1	8390	broad.mit.edu	37	17	3030147	3030147	+	Silent	SNP	C	T	T	rs146714964	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:3030147C>T	uc002fvc.1	-	0	699	c.699G>A	c.(697-699)ggG>ggA	p.G233G		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CTTTCCGCTTCCCCTGAGCTG	0.488000														43			13		0	0	0.001855	0	0
RING1	6015	broad.mit.edu	37	6	33178988	33178988	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:33178988G>T	uc003odk.3	+	4	703	c.509G>T	c.(508-510)aGt>aTt	p.S170I	RING1_uc011dqx.1_Missense_Mutation_p.S170I|RING1_uc003odl.3_Missense_Mutation_p.S141I	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						ACAACGATGAGTGGGGGGGAA	0.617000														177			161		3.98587e-82	5.70188e-82	0.003610	1	0
GABRA3	2556	broad.mit.edu	37	X	151514098	151514098	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:151514098G>A	uc010ntk.1	-	2	457	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	73					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.R73H(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCAGAAGACGATCCAAGATT	0.473000														18			31		0	0	0.002445	0	0
CCDC158	339965	broad.mit.edu	37	4	77290760	77290760	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:77290760C>T	uc003hkb.4	-	9	1319	c.1166G>A	c.(1165-1167)aGg>aAg	p.R389K		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	389										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTCCTTCTCCCTTTTGTGTAG	0.433000														56			14		0	0	0.004007	0	0
RFX3	5991	broad.mit.edu	37	9	3293183	3293183	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:3293183G>A	uc003zhr.3	-	6	937	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	RFX3_uc010mhd.3_Missense_Mutation_p.L209F|RFX3_uc003zhs.1_Missense_Mutation_p.L209F|RFX3_uc003zht.1_Missense_Mutation_p.L209F|RFX3_uc010mhe.1_Missense_Mutation_p.L184F	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	209					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CAGTGTCGAAGGTAGTGGTTG	0.448000														40			35		0	0	0.003755	0	0
STIM2	57620	broad.mit.edu	37	4	27010420	27010420	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:27010420G>A	uc003gsg.4	+	9	1813	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	STIM2_uc003gsh.4_Missense_Mutation_p.E437K|STIM2_uc010iex.3_Missense_Mutation_p.E429K|STIM2_uc010iey.3_Missense_Mutation_p.E140K	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	429					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TTGTTTACGAGAACGACTTTT	0.413000														62			19		0	0	0.006122	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542604	182542604	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:182542604G>A	uc021vto.1	-	0	984	c.984C>T	c.(982-984)atC>atT	p.I328I	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Silent_p.I328I|NEUROD1_uc021vtn.1_Silent_p.I328I	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	328					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGTCTATGGGGATCTCGCAGC	0.507000														433			176		0	0	0.003610	0	0
LIPI	149998	broad.mit.edu	37	21	15561360	15561360	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:15561360G>A	uc002yjm.3	-	1	500	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.L143F|LIPI_uc021whh.1_Missense_Mutation_p.L143F|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.L143F|LIPI_uc021whe.1_Missense_Mutation_p.L143F|LIPI_uc021whf.1_Missense_Mutation_p.L143F	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	143					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.L164V(2)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CTTACCAAAAGATTTTTAATG	0.333000														48			13		0	0	0.002450	0	0
OPRL1	4987	broad.mit.edu	37	20	62729389	62729389	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:62729389C>T	uc002yic.3	+	3	887	c.468C>T	c.(466-468)atC>atT	p.I156I	OPRL1_uc002yid.3_Silent_p.I156I|OPRL1_uc021wgs.1_Silent_p.I156I|OPRL1_uc002yif.4_Silent_p.I151I	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	156					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCCACCCCATCCGTGCCCTCG	0.572000														98			40		0	0	0.008740	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841730	8841730	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:8841730C>T	uc010xkg.2	+	0	340	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGAGGGCGTCCTGTTGGTCCT	0.537000														32			23		0	0	0.002299	0	0
KRT5	3852	broad.mit.edu	37	12	52910933	52910933	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:52910933C>T	uc001san.3	-	5	1339	c.1176G>A	c.(1174-1176)atG>atA	p.M392I	KRT5_uc009zmh.3_Missense_Mutation_p.M392I	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	392	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTCTGGATCATCCGGTTCA	0.522000														132			43		0	0	0.007835	0	0
PLAG1	5324	broad.mit.edu	37	8	57079666	57079666	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:57079666G>A	uc003xsq.4	-	2	1090	c.639C>T	c.(637-639)ttC>ttT	p.F213F	PLAG1_uc003xsr.4_Silent_p.F213F|PLAG1_uc010lyi.3_Silent_p.F213F|PLAG1_uc010lyj.3_Silent_p.F131F|PLAG1_uc022aur.1_Silent_p.F131F	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	213	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ACTGACAGAGGAAGTCCTTTC	0.463000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									48			17		0	0	0.006122	0	0
LDHA	3939	broad.mit.edu	37	11	18425337	18425337	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:18425337T>C	uc001mok.3	+	5	961	c.689T>C	c.(688-690)gTt>gCt	p.V230A	LDHA_uc009yho.2_Missense_Mutation_p.V57A|LDHA_uc001mol.3_Missense_Mutation_p.V230A|LDHA_uc010rdc.1_Missense_Mutation_p.V172A|LDHA_uc021qep.1_Splice_Site_p.E229_splice|LDHA_uc010rdd.2_Missense_Mutation_p.V259A	NM_005566	NP_005557	P00338	LDHA_HUMAN	Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 1, mRNA.	230					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	TGGAAAGAGGTTCACAAGCAG	0.353000														26			23		0	0	0.003330	0	0
ELMO2	63916	broad.mit.edu	37	20	45017681	45017681	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:45017681G>A	uc010zxr.1	-	6	632	c.422C>T	c.(421-423)tCc>tTc	p.S141F	ELMO2_uc002xrt.1_Missense_Mutation_p.S141F|ELMO2_uc002xru.1_Missense_Mutation_p.S141F|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrw.3_5'Flank|ELMO2_uc002xrx.1_Missense_Mutation_p.S141F	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	141					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TACTCACTGGGACAAGAGCTT	0.483000														64			25		0	0	0.004656	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563764	140563764	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140563764G>A	uc003liv.3	+	0	2785	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	544	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S543R(2)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAGCAGCGAGGCGCTGGT	0.697000														20			31		0	0	0.004289	0	0
CXCL12	6387	broad.mit.edu	37	10	44876329	44876329	+	Splice_Site	SNP	C	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:44876329C>A	uc001jbf.3	-	2	154	c.62_splice	c.e2-1	p.G21_splice	CXCL12_uc001jbh.3_Splice_Site_p.G21_splice|CXCL12_uc021ppm.1_Splice_Site_p.G21_splice|CXCL12_uc001jbi.3_Splice_Site_p.G21_splice	NM_000609	NP_000600	P48061	SDF1_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 12 (CXCL12), transcript variant 2, mRNA.	21					G-protein coupled receptor protein signaling pathway|blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	ACGGGCTTCCCTAGAAGAGGT	0.493000														461			8		0.00448238	0.00624154	0.004482	1	0
C7orf61	402573	broad.mit.edu	37	7	100054486	100054486	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:100054486G>A	uc003uuz.1	-	2	756	c.510C>T	c.(508-510)cgC>cgT	p.R170R		NM_001004323	NP_001004323	Q8IZ16	CG061_HUMAN	Homo sapiens chromosome 7 open reading frame 61 (C7orf61), mRNA.	170										central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						GGTACAGCCGGCGCAGGTGTT	0.632000														17			11		0	0	0.000978	0	0
GABRA2	2555	broad.mit.edu	37	4	46314709	46314709	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:46314709G>A	uc011bzc.1	-	3	527	c.115C>T	c.(115-117)Cga>Tga	p.R39*	GABRA2_uc003gxc.3_Nonsense_Mutation_p.R94*|GABRA2_uc010igc.2_Nonsense_Mutation_p.R94*|GABRA2_uc003gxe.3_Nonsense_Mutation_p.R94*			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	94					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R94*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATTTTTGTCGAAAGAAAACA	0.279000														31			10		0	0	0.008291	0	0
ZBTB40	9923	broad.mit.edu	37	1	22852732	22852732	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:22852732A>G	uc001bft.2	+	18	4074	c.3563A>G	c.(3562-3564)cAg>cGg	p.Q1188R	ZBTB40_uc001bfu.2_Missense_Mutation_p.Q1188R|ZBTB40_uc009vqi.1_Missense_Mutation_p.Q1076R	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	1188					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCGACAGAGCAGGTGATCACT	0.582000														52			31		0	0	0.008361	0	0
ATP2C2	9914	broad.mit.edu	37	16	84438821	84438821	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:84438821G>A	uc010chj.3	+	2	387	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ATP2C2_uc002fhx.3_Missense_Mutation_p.E100K|ATP2C2_uc002fhy.3_Missense_Mutation_p.E117K|ATP2C2_uc002fhz.3_5'Flank	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	100					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGACAACAGCGAACCTGTGTG	0.547000														25			17		0	0	0.004990	0	0
TG	7038	broad.mit.edu	37	8	134107327	134107327	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:134107327G>A	uc003ytw.3	+	41	7320	c.7279G>A	c.(7279-7281)Gag>Aag	p.E2427K	TG_uc010mdw.3_Missense_Mutation_p.E1186K|TG_uc011ljb.2_Missense_Mutation_p.E796K|TG_uc011ljc.2_Missense_Mutation_p.E560K|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2427					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CATCAGCCATGAGAGGGCTCA	0.602000														141			50		0	0	0.003610	0	0
GART	2618	broad.mit.edu	37	21	34897290	34897290	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:34897290C>T	uc002yrz.3	-	10	1395	c.1084G>A	c.(1084-1086)Gct>Act	p.A362T	GART_uc002yrx.3_Missense_Mutation_p.A362T|GART_uc010gmd.3_Missense_Mutation_p.A24T|GART_uc002yry.3_Missense_Mutation_p.A362T|GART_uc002ysa.2_Missense_Mutation_p.A362T	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	362					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	p.Q361E(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGTCCTAGAGCTTGAGCCTCA	0.443000														49			12		0	0	0.000978	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769292	43769292	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:43769292G>A	uc010skx.2	-	35	5336	c.5336C>T	c.(5335-5337)cCt>cTt	p.P1779L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1779	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCCATTAAAAGGACATTGATA	0.363000														116			24		0	0	0.006320	0	0
FAT4	79633	broad.mit.edu	37	4	126370225	126370225	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:126370225G>A	uc003ifj.4	+	8	8054	c.8054G>A	c.(8053-8055)cGa>cAa	p.R2685Q	FAT4_uc011cgp.2_Missense_Mutation_p.R983Q|FAT4_uc003ifi.1_Missense_Mutation_p.R163Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2685	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2685Q(3)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTTCCCCTCGAAAAATACTT	0.348000														106			31		0	0	0.003755	0	0
SLC12A9	56996	broad.mit.edu	37	7	100458768	100458768	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:100458768C>T	uc003uwp.3	+	9	1369	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	SLC12A9_uc003uwq.3_Silent_p.L320L|SLC12A9_uc011kki.2_5'UTR|SLC12A9_uc003uwr.3_Silent_p.L145L|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_Silent_p.L145L|SLC12A9_uc003uwv.3_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	409						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCTGGTGCTCCTGGCTGGGA	0.597000														105			43		0	0	0.002222	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669797	24669797	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:24669797G>A	uc001iru.4	+	3	758	c.355_splice	c.e3-1	p.T119_splice	KIAA1217_uc001irs.3_Splice_Site_p.T39_splice|KIAA1217_uc001irt.4_Splice_Site_p.T119_splice|KIAA1217_uc010qcy.2_Splice_Site_p.T119_splice|KIAA1217_uc010qcz.2_Splice_Site_p.T119_splice|KIAA1217_uc001irv.1_Splice_Site|KIAA1217_uc010qda.1_Splice_Site	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	119					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCCTTTTGCAGACAAGGAGCC	0.423000														75			25		0	0	0.003954	0	0
OR4A47	403253	broad.mit.edu	37	11	48510356	48510356	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:48510356G>A	uc010rhx.2	+	0	12	c.12G>A	c.(10-12)agG>agA	p.R4R		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGGAGCCAAGGAAAAATGTGA	0.363000														17			6		0	0	0.001168	0	0
MRAS	22808	broad.mit.edu	37	3	138116269	138116269	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:138116269C>T	uc003esh.4	+	2	993	c.297C>T	c.(295-297)agC>agT	p.S99S	MRAS_uc011bmi.2_Silent_p.S23S|MRAS_uc003esi.4_Silent_p.S99S|MRAS_uc021xep.1_Silent_p.S23S|MRAS_uc011bmj.2_Silent_p.S23S|MRAS_uc021xeq.1_Silent_p.S99S	NM_012219	NP_036351	O14807	RASM_HUMAN	Homo sapiens muscle RAS oncogene homolog (MRAS), transcript variant 1, mRNA.	99					Ras protein signal transduction|actin cytoskeleton organization|muscle organ development	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						ACAAGGCCAGCTTTGAGCACG	0.592000														249			135		0	0	0.003610	0	0
ZNF99	7652	broad.mit.edu	37	19	22940944	22940944	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:22940944C>T	uc021urt.1	-	3	1922	c.1767G>A	c.(1765-1767)ggG>ggA	p.G589G		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGGGTTTCTCCCCAGTATGAA	0.358000														10			13		0	0	0.003163	0	0
CMTM6	54918	broad.mit.edu	37	3	32529466	32529466	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:32529466G>A	uc003cfa.1	-	2	544	c.378C>T	c.(376-378)tcC>tcT	p.S126S		NM_017801	NP_060271	Q9NX76	CKLF6_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 6 (CMTM6), mRNA.	126	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)	2						TGTCATGTGTGGAAACAAAAA	0.328000														26			12		0	0	0.001855	0	0
PDGFRB	5159	broad.mit.edu	37	5	149501582	149501582	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:149501582C>T	uc003lro.3	-	15	2674	c.2205G>A	c.(2203-2205)gaG>gaA	p.E735E	PDGFRB_uc010jhd.3_Silent_p.E574E	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	735	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.G734W(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACCGTCGCTCTCCCCGGTCA	0.567000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									40			4		0	0	0.000248	0	0
STARD8	9754	broad.mit.edu	37	X	67942407	67942407	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:67942407C>T	uc004dxb.3	+	11	2932	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D	STARD8_uc004dxa.3_Silent_p.D826D|STARD8_uc004dxc.4_Silent_p.D826D	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	826	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATATCCAGGACCTGCTGCGTG	0.647000														14			7		0	0	0.004482	0	0
OLFM1	10439	broad.mit.edu	37	9	137987737	137987737	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:137987737G>T	uc010nar.3	+	2	347	c.328G>T	c.(328-330)Gtc>Ttc	p.V110F	OLFM1_uc004cfk.4_Missense_Mutation_p.V92F|OLFM1_uc004cfl.4_Missense_Mutation_p.V92F	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	110					nervous system development	endoplasmic reticulum lumen	protein binding	p.Q110K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ATCCATAGAGGTCTTGGACAG	0.512000														34			30		1.45844e-13	2.06749e-13	0.002836	1	0
PRPSAP1	5635	broad.mit.edu	37	17	74328391	74328391	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:74328391C>T	uc010wtb.1	-	3	328	c.107G>A	c.(106-108)aGg>aAg	p.R36K	PRPSAP1_uc010wta.1_Missense_Mutation_p.R139K	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	110					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						AATGGAACCCCTCTTCCTCAT	0.552000														147			26		0	0	0.008361	0	0
TPO	7173	broad.mit.edu	37	2	1481010	1481010	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:1481010G>A	uc002qwr.3	+	7	1058	c.972G>A	c.(970-972)ctG>ctA	p.L324L	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.L324L|TPO_uc002qwx.3_Silent_p.L324L|TPO_uc002qwu.3_Silent_p.L324L|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Silent_p.L324L	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	324					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTCGTTCCTGGACGCGTCCA	0.701000														35			12		0	0	0.000978	0	0
ING3	54556	broad.mit.edu	37	7	120610780	120610780	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:120610780C>T	uc003vjn.3	+	9	1081	c.947C>T	c.(946-948)tCc>tTc	p.S316F	ING3_uc003vjo.3_Missense_Mutation_p.S90F|ING3_uc003vjp.3_Missense_Mutation_p.S316F|ING3_uc011kns.2_Missense_Mutation_p.S301F	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.	316	Poly-Ser.				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TCATCATCTTCCTCCTCCTCT	0.363000														44			9		0	0	0.008291	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150041	117150041	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:117150041C>T	uc003pxj.1	-	0	158	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	GPRC6A_uc003pxk.1_Missense_Mutation_p.E46K|GPRC6A_uc003pxl.1_Missense_Mutation_p.E46K	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	46					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AACATTTTTTCATGAATAGCA	0.433000														28			26		0	0	0.007291	0	0
OR52A1	23538	broad.mit.edu	37	11	5172693	5172693	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5172693G>A	uc010qyy.2	-	0	907	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	303					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R303C(2)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGAATGCGAATCTGTGTG	0.358000														122			19		0	0	0.002299	0	0
CSMD2	114784	broad.mit.edu	37	1	34128492	34128492	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:34128492G>A	uc001bxm.1	-	25	4430	c.4253C>T	c.(4252-4254)tCa>tTa	p.S1418L	CSMD2_uc001bxn.1_Missense_Mutation_p.S1378L|CSMD2_uc001bxo.1_Missense_Mutation_p.S291L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1378	Sushi 8.					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)				GCACAGACCTGAAAATTGAAT	0.572000														125			22		0	0	0.002780	0	0
KCNU1	157855	broad.mit.edu	37	8	36691136	36691136	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:36691136T>C	uc010lvw.3	+	10	1258	c.1171T>C	c.(1171-1173)Tct>Cct	p.S391P	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	391	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AACGTTCATTTCTGGATCTGC	0.403000														45			14		0	0	0.004990	0	0
BLM	641	broad.mit.edu	37	15	91354460	91354460	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:91354460C>T	uc002bpr.3	+	20	3997	c.3900C>T	c.(3898-3900)agC>agT	p.S1300S	BLM_uc010uqh.2_Silent_p.S1300S|BLM_uc010uqi.2_Silent_p.S925S|BLM_uc010bnx.3_Silent_p.S1169S	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	1300					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CAGGGATAAGCCTGTCCAGCA	0.478000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					291			100		0	0	0.003610	0	0
TMC5	79838	broad.mit.edu	37	16	19451758	19451758	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:19451758G>A	uc002dgc.4	+	2	1147	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	TMC5_uc010vaq.2_Missense_Mutation_p.R133Q|TMC5_uc002dgb.4_Missense_Mutation_p.R133Q|TMC5_uc010var.2_Missense_Mutation_p.R133Q	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	133						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGATCTCAACGAAATCCTGAT	0.498000														164			87		0	0	0.003610	0	0
NXF3	56000	broad.mit.edu	37	X	102339406	102339406	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:102339406G>A	uc004eju.3	-	2	286	c.215C>T	c.(214-216)tCa>tTa	p.S72L	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.S72L|NXF3_uc011mrx.1_5'UTR	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	72						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATTATAGGGTGAAATAGTATA	0.428000														33			47		0	0	0.003610	0	0
ZNF695	57116	broad.mit.edu	37	1	247163224	247163224	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:247163224G>A	uc009xgu.3	-	1	341	c.156C>T	c.(154-156)ttC>ttT	p.F52F	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Non-coding_Transcript|ZNF695_uc001ibx.3_Silent_p.F52F|ZNF695_uc001iby.3_Non-coding_Transcript|ZNF695_uc001icc.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	52	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGTGAAATAGGAATTGCATAT	0.398000														28			19		0	0	0.006122	0	0
PDE1C	5137	broad.mit.edu	37	7	31862772	31862772	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:31862772G>A	uc003tcm.2	-	13	1958	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	PDE1C_uc003tcn.1_Silent_p.I499I|PDE1C_uc003tco.2_Silent_p.I559I|PDE1C_uc003tcr.3_Silent_p.I499I|PDE1C_uc003tcs.3_Silent_p.I499I	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	499	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGTCAACGGAGATGACAGAAT	0.488000														95			41		0	0	0.006230	0	0
ADORA3	140	broad.mit.edu	37	1	112042689	112042689	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:112042689G>A	uc001ebh.4	-	1	1607	c.840C>T	c.(838-840)atC>atT	p.I280I	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	280					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGGCATAGACGATAGGGTTCA	0.443000														42			7		0	0	0.003080	0	0
E4F1	1877	broad.mit.edu	37	16	2285568	2285568	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:2285568G>A	uc002cpm.3	+	13	2398	c.2350G>A	c.(2350-2352)Gtc>Atc	p.V784I	E4F1_uc010bsi.3_3'UTR|E4F1_uc010bsj.3_Missense_Mutation_p.V607I|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	784					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GACGGTCATCGTCTAGCATGA	0.642000														11			9		0	0	0.004482	0	0
ABCA9	10350	broad.mit.edu	37	17	66980286	66980286	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:66980286C>T	uc002jhu.3	-	34	4553	c.4410G>A	c.(4408-4410)acG>acA	p.T1470T	ABCA9_uc010dez.3_Silent_p.T1432T	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1470	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CGCCCCTCTCCGTGTTTCTAA	0.517000														71			18		0	0	0.006122	0	0
TPTE	7179	broad.mit.edu	37	21	10998312	10998312	+	RNA	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:10998312C>T	uc002yis.1	-	10		c.1941G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TCTGATTTTCCATCACAATCC	0.363000														102			11		0	0	0.001368	0	0
FASN	2194	broad.mit.edu	37	17	80038687	80038687	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:80038687G>A	uc002kdu.3	-	38	6824	c.6707C>T	c.(6706-6708)tCc>tTc	p.S2236F	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2236	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCTCTGCACGGAGTTGAGCCG	0.672000														25			16		0	0	0.007413	0	0
FAT3	120114	broad.mit.edu	37	11	92532555	92532555	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:92532555G>A	uc001pdj.4	+	8	6393	c.6376G>A	c.(6376-6378)Gac>Aac	p.D2126N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2126	Cadherin 19.				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)				CCTGCAGGATGACTATGGCCA	0.428000										TCGA Ovarian(4;0.039)				476			159		0	0	0.003610	0	0
OR1D2	4991	broad.mit.edu	37	17	2995652	2995652	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:2995652G>A	uc010vrb.2	-	0	639	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	213					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AAATGATCACGAATCCAAAGG	0.448000														73			15		0	0	0.004990	0	0
CRB2	286204	broad.mit.edu	37	9	126133213	126133213	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:126133213C>T	uc004bnx.1	+	6	1973	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	CRB2_uc004bnw.1_Silent_p.F627F	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	627	EGF-like 10.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGACTCATTTCCGTTGCGACT	0.622000														28			26		0	0	0.006320	0	0
C14orf49	161176	broad.mit.edu	37	14	95932343	95932343	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:95932343G>A	uc001yei.4	-	2	567	c.552C>T	c.(550-552)atC>atT	p.I184I	C14orf49_uc010avi.3_Silent_p.I184I|C14orf49_uc001yej.1_Silent_p.I184I	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	184					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		TGGGGTCCCCGATCCTGTTGA	0.637000														78			31		0	0	0.002445	0	0
SYCP1	6847	broad.mit.edu	37	1	115428188	115428188	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:115428188G>A	uc001efr.3	+	12	1152	c.943G>A	c.(943-945)Gag>Aag	p.E315K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E315K|SYCP1_uc009wgw.3_Missense_Mutation_p.E315K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	315					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAATCAATTGAGAAACAGCA	0.264000														56			29		0	0	0.002836	0	0
MUC16	94025	broad.mit.edu	37	19	9049971	9049971	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:9049971G>A	uc002mkp.3	-	4	31864	c.31660C>T	c.(31660-31662)Ccc>Tcc	p.P10554S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10556	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGTCCTGGGAAGAGCTGTG	0.488000														100			64		0	0	0.003610	0	0
ALPK3	57538	broad.mit.edu	37	15	85411675	85411676	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:85411675_85411676GG>AA	uc002ble.3	+	13	5879_5880	c.5712_5713GG>AA	c.(5710-5715)cagggc>caAAgc	p.G1905S	ALPK3_uc010upc.2_Missense_Mutation_p.G206S	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1905					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCAAGGCCCAGGGCATGCGGTA	0.599000														24			12		0	0	0.004672	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	39913	39913	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrGL000218.1:39913C>T	uc011mfn.2	-	3	493	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	LOC100233156_uc003jah.2_Missense_Mutation_p.R135Q					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		CATGTTGGGCCGGTGTGAGAG	0.622000														24			4		0	0	0.000602	0	0
DNAH9	1770	broad.mit.edu	37	17	11622780	11622780	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:11622780C>T	uc002gne.3	+	26	5750	c.5682C>T	c.(5680-5682)ttC>ttT	p.F1894F	DNAH9_uc010coo.3_Silent_p.F1188F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1894	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTATGTGTTCAACTGCTCGG	0.607000														66			16		0	0	0.004990	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080096	70080096	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:70080096G>A	uc003heh.3	-	0	354	c.345C>T	c.(343-345)atC>atT	p.I115I	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	115					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E114K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTCCCACAGGATTTCTTGTT	0.299000														71			11		0	0	0.003163	0	0
CACNG3	10368	broad.mit.edu	37	16	24372957	24372957	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:24372957G>A	uc002dmf.3	+	3	1923	c.721G>A	c.(721-723)Gag>Aag	p.E241K		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	241					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCGCTCCACCGAGCCCAGATC	0.572000														43			23		0	0	0.001882	0	0
SPEN	23013	broad.mit.edu	37	1	16258976	16258976	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:16258976C>T	uc001axk.1	+	10	6445	c.6241C>T	c.(6241-6243)Cga>Tga	p.R2081*	SPEN_uc010obp.1_Nonsense_Mutation_p.R2040*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2081					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGAAGATCTCGAAACTCCAG	0.512000														120			21		0	0	0.001523	0	0
MS4A4A	51338	broad.mit.edu	37	11	60059813	60059813	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:60059813G>A	uc001noz.3	+	1	292	c.157G>A	c.(157-159)Gga>Aga	p.G53R	MS4A4A_uc001npa.3_Missense_Mutation_p.G34R|MS4A4A_uc001npc.3_Missense_Mutation_p.G53R	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	53						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TCTGTGGAAAGGATTGCAAGA	0.488000														57			11		0	0	0.008291	0	0
CSMD2	114784	broad.mit.edu	37	1	34006190	34006190	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:34006190G>A	uc001bxm.1	-	59	9743	c.9566C>T	c.(9565-9567)tCc>tTc	p.S3189F	CSMD2_uc001bxn.1_Missense_Mutation_p.S3045F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3165	Sushi 26.					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)				CGCGGGCAGGGAGAGCTGGTA	0.587000														70			27		0	0	0.006320	0	0
PPEF2	5470	broad.mit.edu	37	4	76785644	76785644	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:76785644T>C	uc003hix.3	-	15	2314	c.1957A>G	c.(1957-1959)Aac>Gac	p.N653D	PPEF2_uc003hiy.3_Non-coding_Transcript	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	653	EF-hand 2.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.R652Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGGATCGGTTTCGATACAAT	0.328000														64			20		0	0	0.002299	0	0
HOXD4	3233	broad.mit.edu	37	2	177017469	177017469	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:177017469C>A	uc002uks.3	+	1	816	c.567C>A	c.(565-567)caC>caA	p.H189Q		NM_014621	NP_055436	P09016	HXD4_HUMAN	Homo sapiens homeobox D4 (HOXD4), mRNA.	189						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H189Y(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAATCGCTCACACCCTGTGTC	0.502000														48			21		2.4624e-09	3.46723e-09	0.008871	1	0
APOB	338	broad.mit.edu	37	2	21229477	21229477	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:21229477C>T	uc002red.3	-	25	10391	c.10263G>A	c.(10261-10263)atG>atA	p.M3421I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3421	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGACACTTCCATATTTTTCG	0.393000														594			253		0	0	0.003610	0	0
SLC6A1	6529	broad.mit.edu	37	3	11076345	11076345	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:11076345G>A	uc010hdq.3	+	14	2067	c.1656G>A	c.(1654-1656)atG>atA	p.M552I		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	552					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)	CCGGGTACATGGCCTACATGT	0.577000														85			40		0	0	0.003610	0	0
CLDN1	9076	broad.mit.edu	37	3	190026224	190026224	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:190026224C>T	uc003fsh.3	-	3	718	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	160					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TGACCAAATTCGTACCTAAAA	0.398000														37			11		0	0	0.000978	0	0
ZNF735	730291	broad.mit.edu	37	7	63680610	63680610	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:63680610C>T	uc011kdn.2	+	3	1181	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AAGTGGCATTCAAGTCTTGCT	0.358000														12			4		0	0	0.000602	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212753	134212753	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:134212753C>T	uc001qhp.3	+	1	380	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	64					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCTGGATCTTCGGGGGCTCCA	0.617000														83			11		0	0	0.000978	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209591	140209591	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140209591G>A	uc003lho.2	+	0	1942	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.E639K	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	650	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTGGACGAAGCGGACTC	0.667000														64			14		0	0	0.004990	0	0
MGAM	8972	broad.mit.edu	37	7	141736669	141736669	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:141736669C>T	uc003vwy.3	+	17	2177	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	708	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGTTGAATTCCTCCAGGCAC	0.547000														248			84		0	0	0.003610	0	0
TIMM8A	1678	broad.mit.edu	37	X	100601521	100601521	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:100601521G>A	uc004ehd.2	-	1	565	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_004085	NP_004076	O60220	TIM8A_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 8 homolog A (yeast) (TIMM8A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	87					nervous system development|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	protein binding			endometrium(1)|lung(1)	2						AACTGGCTTGGATTTCTGGGT	0.448000														47			74		0	0	0.003610	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854298	12854298	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:12854298G>A	uc001auj.2	+	2	625	c.522G>A	c.(520-522)agG>agA	p.R174R		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	174										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	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;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTACCAAAGGAGAGGTTTAG	0.418000														385			44		0	0	0.003610	0	0
GSDMB	55876	broad.mit.edu	37	17	38068655	38068655	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:38068655G>A	uc010cwj.3	-	2	462	c.331C>T	c.(331-333)Cag>Tag	p.Q111*	GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Nonsense_Mutation_p.Q111*|GSDMB_uc002hth.3_Nonsense_Mutation_p.Q111*|GSDMB_uc010wem.2_Nonsense_Mutation_p.Q111*	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	111						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TGGAAGCCCTGGAAACTGCCT	0.453000														51			28		0	0	0.007291	0	0
DNAI1	27019	broad.mit.edu	37	9	34517343	34517343	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:34517343G>A	uc003zum.3	+	18	2072	c.1879G>A	c.(1879-1881)Gcc>Acc	p.A627T		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	627					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	p.A627A(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCCTGTGGCGGCCAAAAAGAA	0.542000									Kartagener syndrome					19			16		0	0	0.004007	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705387	41705387	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:41705387G>A	uc001uxu.1	-	0	1550	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	421							protein binding	p.R421C(2)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CACAGCAAGCGATCTGCAAGT	0.488000														92			40		0	0	0.007835	0	0
DDX43	55510	broad.mit.edu	37	6	74115538	74115538	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:74115538C>T	uc003pgw.3	+	5	1131	c.787C>T	c.(787-789)Caa>Taa	p.Q263*	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	263						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGCAGGTTTTCAAAAGCCAAC	0.388000														22			18		0	0	0.001523	0	0
CCDC92	80212	broad.mit.edu	37	12	124421944	124421944	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:124421944T>G	uc001ufw.1	-	4	804	c.657A>C	c.(655-657)gaA>gaC	p.E219D	CCDC92_uc001ufv.1_Missense_Mutation_p.E202D|CCDC92_uc001ufx.1_Missense_Mutation_p.E219D	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	219										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TGTAGACCTCTTCAAATTCCG	0.597000														73			36		0	0	0.003755	0	0
HPCAL1	3241	broad.mit.edu	37	2	10560075	10560075	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:10560075C>T	uc002raj.3	+	2	566	c.192C>T	c.(190-192)ttC>ttT	p.F64F	HPCAL1_uc002ral.3_Silent_p.F64F|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Silent_p.F64F	NM_002149	NP_602293	P37235	HPCL1_HUMAN	Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA.	64	EF-hand 2.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CTTCCAAGTTCGCCGAGCACG	0.617000														31			18		0	0	0.006122	0	0
OR4C3	256144	broad.mit.edu	37	11	48346903	48346903	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:48346903C>T	uc010rhv.2	+	0	411	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	110					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						GTGTTGAGATCATTCTGCTCA	0.478000														209			17		0	0	0.003755	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269487	150269487	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:150269487C>T	uc003whl.3	+	2	411	c.329C>T	c.(328-330)aCc>aTc	p.T110I	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.T124I	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	110							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATTCTTCTGACCTCCCCAGGG	0.502000														72			23		0	0	0.004656	0	0
KIF26A	26153	broad.mit.edu	37	14	104639320	104639320	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:104639320C>T	uc001yos.4	+	7	1427	c.1427C>T	c.(1426-1428)tCg>tTg	p.S476L		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	476	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCAGGCAAGTCGTACACCATG	0.667000														11			11		0	0	0.008291	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957500	73957500	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:73957500G>A	uc003hgp.3	-	28	5962	c.5845C>T	c.(5845-5847)Cat>Tat	p.H1949Y	ANKRD17_uc003hgo.3_Missense_Mutation_p.H1836Y|ANKRD17_uc003hgq.3_Missense_Mutation_p.H1698Y|ANKRD17_uc003hgr.3_Missense_Mutation_p.H1948Y	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1949					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATTGCTATGGCGAGGCACC	0.507000														126			60		0	0	0.003610	0	0
SLC22A18	5002	broad.mit.edu	37	11	2924639	2924639	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:2924639C>T	uc001lwx.3	+	1	282	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	SLC22A18AS_uc001lwv.4_Intron|SLC22A18AS_uc001lww.4_Intron|SLC22A18_uc001lwy.3_Missense_Mutation_p.R22W	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	22					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGCTCTAGGCCGGTCCTCGGT	0.642000														428			88		0	0	0.003610	0	0
C15orf27	123591	broad.mit.edu	37	15	76496435	76496435	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:76496435G>A	uc002bbq.3	+	10	1530	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	C15orf27_uc010bkp.3_Missense_Mutation_p.D275N|C15orf27_uc002bbr.3_Missense_Mutation_p.D275N|C15orf27_uc002bbs.3_Missense_Mutation_p.D137N	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	459						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GAAGGCCTTGGACCCAGCCCC	0.687000														72			17		0	0	0.004007	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184519	72184519	+	Silent	SNP	C	T	T	rs146909225	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:72184519C>T	uc002fcc.4	-	4	796	c.624G>A	c.(622-624)ggG>ggA	p.G208G	PMFBP1_uc002fcd.3_Silent_p.G208G|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.G63G	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	208										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GACCCATGATCCCGCCGAGTT	0.527000														143			70		0	0	0.003610	0	0
NALCN	259232	broad.mit.edu	37	13	101844285	101844285	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:101844285G>A	uc001vox.1	-	13	1936	c.1747C>T	c.(1747-1749)Cat>Tat	p.H583Y	NALCN_uc001voy.3_Missense_Mutation_p.H298Y|NALCN_uc001voz.2_Missense_Mutation_p.H583Y|NALCN_uc001vpa.2_Missense_Mutation_p.H583Y	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	583						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.H583N(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAAAAAGATGATAGAGAATG	0.403000														19			9		0	0	0.004482	0	0
ASB5	140458	broad.mit.edu	37	4	177143536	177143536	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:177143536G>A	uc003iuq.2	-	2	426	c.312C>T	c.(310-312)gtC>gtT	p.V104V	ASB5_uc003iup.2_Silent_p.V51V	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	104					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GCAATGGGGTGACATGGTCTA	0.388000														71			27		0	0	0.001786	0	0
NLRP4	147945	broad.mit.edu	37	19	56369277	56369277	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:56369277C>T	uc002qmd.4	+	2	940	c.518C>T	c.(517-519)tCg>tTg	p.S173L	NLRP4_uc002qmf.3_Missense_Mutation_p.S98L|NLRP4_uc010etf.3_Missense_Mutation_p.S4L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	173	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGGCCTGGTCGGACAACAAG	0.498000														62			53		0	0	0.003610	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132422	42132422	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:42132422G>A	uc001zoo.4	+	6	809	c.769G>A	c.(769-771)Gac>Aac	p.D257N	JMJD7-PLA2G4B_uc001zon.2_3'UTR|JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.D257N|JMJD7-PLA2G4B_uc001zoq.4_5'UTR|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.D26N|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	26	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						ACCCTCTAAGGACCTAGGTGA	0.667000														62			18		0	0	0.006122	0	0
CSMD1	64478	broad.mit.edu	37	8	2855685	2855685	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:2855685C>T	uc022aqr.1	-	53	8615	c.8225G>A	c.(8224-8226)gGa>gAa	p.G2742E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2072E|CSMD1_uc010lrg.3_Missense_Mutation_p.G753E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2743	Sushi 19.					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)		GGCAGGGTTTCCAGGGTGACC	0.458000														98			47		0	0	0.003610	0	0
SLC22A4	6583	broad.mit.edu	37	5	131662987	131662987	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:131662987C>T	uc003kwq.3	+	4	1007	c.842C>T	c.(841-843)cCc>cTc	p.P281L	SLC22A4_uc010jdq.1_Non-coding_Transcript|LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	281					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CCTGAATCTCCCCGATGGCTG	0.348000														7			6		0	0	0.001168	0	0
SAMD7	344658	broad.mit.edu	37	3	169646316	169646316	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:169646316G>A	uc003fgd.3	+	6	1258	c.991G>A	c.(991-993)Gat>Aat	p.D331N	SAMD7_uc003fge.3_Missense_Mutation_p.D331N|SAMD7_uc011bpo.2_Missense_Mutation_p.D232N	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	331	SAM.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GACCGTGGATGATGTGCACAG	0.388000														102			35		0	0	0.004878	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454590	6454590	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:6454590G>A	uc002mex.1	-	4	764	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	SLC25A23_uc002mev.3_Non-coding_Transcript|SLC25A23_uc010xjd.1_Missense_Mutation_p.R25C	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	208					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						ACCTTGAGGCGGTCCAGAGGG	0.642000														16			27		0	0	0.005443	0	0
OVOL2	58495	broad.mit.edu	37	20	18022217	18022217	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:18022217C>T	uc002wqi.1	-	2	715	c.472G>A	c.(472-474)Gac>Aac	p.D158N		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	Homo sapiens ovo-like 2 (Drosophila) (OVOL2), mRNA.	158					negative regulation of Notch signaling pathway|negative regulation of keratinocyte differentiation|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TCGAAGGTGTCGTTGAAGCCC	0.562000														41			15		0	0	0.003163	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634820	70634820	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:70634820G>A	uc001xly.3	-	1	1074	c.320C>T	c.(319-321)tCt>tTt	p.S107F	SLC8A3_uc001xlw.3_Missense_Mutation_p.S107F|SLC8A3_uc001xlx.3_Missense_Mutation_p.S107F|SLC8A3_uc001xlz.3_Missense_Mutation_p.S107F|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	107					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCTCTCTTGAGAGGTGATGAC	0.473000														36			18		0	0	0.006122	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124189307	124189307	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:124189307C>T	uc001lge.2	+	11	1317	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	PLEKHA1_uc001lgf.2_3'UTR|PLEKHA1_uc001lgg.2_Silent_p.F356F|PLEKHA1_uc021qae.1_5'Flank	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	356					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAGGGAACTTCAAGGTCCAGA	0.473000														60			17		0	0	0.006122	0	0
SLC24A3	57419	broad.mit.edu	37	20	19698204	19698204	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:19698204C>T	uc002wrl.3	+	15	1949	c.1752C>T	c.(1750-1752)tcC>tcT	p.S584S		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	584						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGATCTACTCCGTAGGCTTGC	0.507000														265			103		0	0	0.003610	0	0
NUAK2	81788	broad.mit.edu	37	1	205272896	205272896	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:205272896G>A	uc001hce.3	-	6	1696	c.1569C>T	c.(1567-1569)tcC>tcT	p.S523S		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	523					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTTCATCCAGGGAGCCGAAGG	0.642000														83			29		0	0	0.002096	0	0
GPR63	81491	broad.mit.edu	37	6	97247595	97247595	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:97247595C>T	uc010kcl.3	-	2	491	c.13G>A	c.(13-15)Gca>Aca	p.A5T	GPR63_uc003pou.3_Missense_Mutation_p.A5T|GPR63_uc021zcy.1_Missense_Mutation_p.A5T	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	5						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTCAACACTGCCGAGAAGACC	0.463000														41			23		0	0	0.002780	0	0
LRRC66	339977	broad.mit.edu	37	4	52861191	52861191	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:52861191G>A	uc003gzi.3	-	3	2004	c.1997C>T	c.(1996-1998)cCa>cTa	p.P666L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	666						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AAAGACTGATGGGCCTGTGTC	0.557000														73			24		0	0	0.003330	0	0
ABCC4	10257	broad.mit.edu	37	13	95725490	95725490	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:95725490A>C	uc001vmd.4	-	23	3105	c.2986T>G	c.(2986-2988)Tgt>Ggt	p.C996G	ABCC4_uc010afk.3_Missense_Mutation_p.C949G	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	996	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGTCGAACACACCACTGAAAC	0.448000														36			13		0	0	0.003163	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442579	37442579	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:37442579G>A	uc021ppc.1	+	12	1718	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	ANKRD30A_uc001iza.1_Missense_Mutation_p.G540E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	596						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAATAAATGGAAAATTAGAA	0.323000														164			21		0	0	0.001523	0	0
RIT2	6014	broad.mit.edu	37	18	40613800	40613800	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:40613800G>A	uc002lav.3	-	1	309	c.136C>T	c.(136-138)Cct>Tct	p.P46S	RIT2_uc010dnf.3_Missense_Mutation_p.P46S	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	46					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGATAATCAGGGAACTGATGA	0.318000														29			14		0	0	0.003163	0	0
COL14A1	7373	broad.mit.edu	37	8	121259858	121259858	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:121259858C>T	uc003yox.3	+	20	2751	c.2486C>T	c.(2485-2487)tCc>tTc	p.S829F	COL14A1_uc003yoy.3_Missense_Mutation_p.S507F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	829	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.S829S(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAGTACCATCCTCGGGGCCC	0.473000														34			21		0	0	0.002299	0	0
KIAA1967	57805	broad.mit.edu	37	8	22470634	22470634	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:22470634C>T	uc003xch.3	+	7	938	c.689C>T	c.(688-690)cCt>cTt	p.P230L	KIAA1967_uc003xci.3_Missense_Mutation_p.P230L|KIAA1967_uc003xcj.1_5'UTR	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	230					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CACCTCACTCCTTACACTGTG	0.542000														40			17		0	0	0.004007	0	0
EHBP1	23301	broad.mit.edu	37	2	63220725	63220725	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:63220725C>T	uc002sby.3	+	18	3489	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S	EHBP1_uc010fcp.3_Missense_Mutation_p.P932S|EHBP1_uc002sbz.3_Missense_Mutation_p.P932S|EHBP1_uc002scb.3_Missense_Mutation_p.P968S	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	1003						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTTTAGAAATCCTGTTGTGTT	0.368000														38			17		0	0	0.004990	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881255	33881255	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:33881255C>T	uc003jia.1	-	1	621	c.458G>A	c.(457-459)gGg>gAg	p.G153E	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G153E|ADAMTS12_uc003jib.1_Missense_Mutation_p.G153E	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	153					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCTGCCGTCCCAACTCTGGT	0.587000										HNSCC(64;0.19)				58			10		0	0	0.000978	0	0
PPARG	5468	broad.mit.edu	37	3	12421306	12421306	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:12421306C>T	uc003bwx.3	+	1	277	c.186C>T	c.(184-186)atC>atT	p.I62I	PPARG_uc003bwr.3_Silent_p.I34I|PPARG_uc003bws.3_Silent_p.I34I|PPARG_uc003bwu.3_Silent_p.I34I|PPARG_uc003bwv.3_Silent_p.I34I|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc010hdz.1_Non-coding_Transcript|PPARG_uc003bwt.1_Silent_p.I34I|PPARG_uc003bww.1_Silent_p.I62I	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	62					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCTTTGATATCAAGCCCTTCA	0.468000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							555			209		0	0	0.003610	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715016	65715016	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:65715016G>A	uc001ogk.1	+	3	749	c.717G>A	c.(715-717)agG>agA	p.R239R	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	240										endometrium(2)|kidney(3)|lung(9)	14						GCCCCAGGAGGGGGTCGATCT	0.632000														90			10		0	0	0.001368	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972609	92972609	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:92972609T>A	uc022axs.1	-	11	2040	c.1853A>T	c.(1852-1854)cAg>cTg	p.Q618L	RUNX1T1_uc003yfc.2_Missense_Mutation_p.Q532L|RUNX1T1_uc010mam.3_Missense_Mutation_p.Q532L|RUNX1T1_uc003yfe.2_Missense_Mutation_p.Q522L|RUNX1T1_uc003yfd.3_Missense_Mutation_p.Q559L|RUNX1T1_uc022axo.1_Missense_Mutation_p.Q559L|RUNX1T1_uc010mao.3_Missense_Mutation_p.Q532L|RUNX1T1_uc011lgi.2_Missense_Mutation_p.Q570L|RUNX1T1_uc022axp.1_Missense_Mutation_p.Q559L|RUNX1T1_uc022axq.1_Missense_Mutation_p.Q559L|RUNX1T1_uc022axr.1_Missense_Mutation_p.Q559L|RUNX1T1_uc022axt.1_Missense_Mutation_p.Q559L|RUNX1T1_uc022axu.1_Missense_Mutation_p.Q539L|RUNX1T1_uc022axv.1_Missense_Mutation_p.Q559L|RUNX1T1_uc010man.2_Missense_Mutation_p.Q184L|RUNX1T1_uc003yfb.2_Missense_Mutation_p.Q522L	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	559					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCTCCCTGCTGCTGGGCCTG	0.607000														38			13		0	0	0.001368	0	0
PSG4	5672	broad.mit.edu	37	19	43708061	43708061	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:43708061C>T	uc002ovy.3	-	1	509	c.407G>A	c.(406-408)gGa>gAa	p.G136E	PSG4_uc002ovz.3_Missense_Mutation_p.G136E|PSG4_uc002owb.3_Missense_Mutation_p.G136E	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	136	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTGAAATGTCCAGTTACTCC	0.522000														106			75		0	0	0.003610	0	0
PDGFRB	5159	broad.mit.edu	37	5	149495377	149495377	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:149495377C>T	uc003lro.3	-	22	3739	c.3270G>A	c.(3268-3270)ccG>ccA	p.P1090P	CSF1R_uc003lrm.3_5'Flank|PDGFRB_uc003lrn.1_5'Flank|PDGFRB_uc010jhd.3_Silent_p.P929P	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1090					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.P1090P(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCCCGAATCCGGCAACTGTT	0.682000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									31			13		0	0	0.003163	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871371	8871371	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:8871371G>A	uc002qzc.2	-	29	4977	c.4795C>T	c.(4795-4797)Ctg>Ttg	p.L1599L	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.L1500L|KIDINS220_uc002qzb.2_Silent_p.L453L	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1599					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.L1599L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCATTGTGCAGAGAGTGATTG	0.468000														43			21		0	0	0.001523	0	0
KIAA0100	9703	broad.mit.edu	37	17	26943163	26943163	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:26943163G>A	uc002hbu.3	-	36	6444	c.6341C>T	c.(6340-6342)tCc>tTc	p.S2114F	SPAG5_uc010waq.1_5'Flank|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_5'Flank|SPAG5_uc010crq.2_5'Flank|SPAG5_uc021ttt.1_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	2114						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTAGATGAAGGAGTTGTTCAT	0.478000														49			17		0	0	0.006122	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916096	149916096	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:149916096G>A	uc001etn.3	-	11	2548	c.2192C>T	c.(2191-2193)cCc>cTc	p.P731L		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	731					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|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)			GCACTGTCTGGGGAAGGTGGC	0.657000														49			24		0	0	0.004656	0	0
OBSL1	23363	broad.mit.edu	37	2	220432081	220432081	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:220432081G>A	uc010fwk.3	-	3	2065	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	OBSL1_uc010fwl.2_Missense_Mutation_p.S584F|OBSL1_uc002vmi.3_Missense_Mutation_p.S584F	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	584	Fibronectin type-III.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GTCACCCTCGGAGGGCACACA	0.622000														21			8		0	0	0.004482	0	0
CD300LG	146894	broad.mit.edu	37	17	41926251	41926251	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:41926251C>T	uc002iem.3	+	1	438	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CD300LG_uc002iel.2_Silent_p.F123F|CD300LG_uc010czk.3_Silent_p.F123F|CD300LG_uc010wil.2_Silent_p.F123F|CD300LG_uc010czl.3_Silent_p.F123F	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA.	123						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTCTCTGTTCGTCTTTCCAG	0.557000														45			21		0	0	0.001523	0	0
WSCD2	9671	broad.mit.edu	37	12	108589750	108589750	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:108589750G>A	uc001tms.3	+	1	885	c.141G>A	c.(139-141)ggG>ggA	p.G47G	WSCD2_uc001tmt.3_Silent_p.G47G	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	47						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTGTCTCGGGGAACCAGGCGA	0.612000														168			56		0	0	0.003610	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199523	71199523	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:71199523C>T	uc001xmm.3	-	10	2563	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	MAP3K9_uc010ttk.2_Missense_Mutation_p.D583N|MAP3K9_uc001xmk.3_Missense_Mutation_p.D588N|MAP3K9_uc001xml.3_Missense_Mutation_p.D869N	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	855					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACAATTTCATCGCTGTCGGAG	0.602000														42			21		0	0	0.001523	0	0
C15orf44	81556	broad.mit.edu	37	15	65892154	65892154	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:65892154G>A	uc010uix.2	-	3	940	c.552C>T	c.(550-552)ttC>ttT	p.F184F	C15orf44_uc002apd.3_Silent_p.F148F|C15orf44_uc010uja.2_Silent_p.F131F|C15orf44_uc010ujb.2_Silent_p.F91F|C15orf44_uc002ape.4_Silent_p.F148F|C15orf44_uc010uiy.2_Silent_p.F69F|C15orf44_uc010uiz.2_Silent_p.F112F|C15orf44_uc010ujc.2_Silent_p.F180F			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	148	VWFA.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						ACTTAGATGGGAAAGGAAAAG	0.408000														61			30		0	0	0.002445	0	0
SPRY1	10252	broad.mit.edu	37	4	124323479	124323479	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:124323479C>T	uc003ifa.3	+	1	920	c.733C>T	c.(733-735)Cct>Tct	p.P245S	SPRY1_uc003ifb.3_Missense_Mutation_p.P245S|SPRY1_uc021xro.1_Missense_Mutation_p.P245S	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	245	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						TTCAGATAATCCTTGCTCCTG	0.458000														116			58		0	0	0.003610	0	0
OR10A3	26496	broad.mit.edu	37	11	7960551	7960551	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:7960551C>T	uc010rbi.2	-	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGATTAATTTCATTGGGGCCA	0.413000														38			10		0	0	0.001368	0	0
GPR179	440435	broad.mit.edu	37	17	36499539	36499539	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:36499539C>T	uc002hpz.3	-	0	155	c.134G>A	c.(133-135)gGa>gAa	p.G45E		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	45						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGTACAGATCCTGGCTTGAC	0.622000														79			9		0	0	0.008291	0	0
SLC40A1	30061	broad.mit.edu	37	2	190444572	190444572	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:190444572G>A	uc002uqp.4	-	1	429	c.78C>T	c.(76-78)ttC>ttT	p.F26F	SLC40A1_uc002uqr.1_Non-coding_Transcript|SLC40A1_uc002uqs.1_Non-coding_Transcript|SLC40A1_uc002uqq.2_Silent_p.F26F|SLC40A1_uc010zfx.1_Non-coding_Transcript	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	26					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GGTAGAGAAGGAATTTTGCAG	0.458000														41			20		0	0	0.001882	0	0
MECOM	2122	broad.mit.edu	37	3	168834494	168834494	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:168834494G>A	uc011bpj.1	-	7	1569	c.1166C>T	c.(1165-1167)tCa>tTa	p.S389L	MECOM_uc010hwk.1_Missense_Mutation_p.S224L|MECOM_uc003ffj.3_Missense_Mutation_p.S266L|MECOM_uc003ffi.3_Missense_Mutation_p.S201L|MECOM_uc011bpi.1_Missense_Mutation_p.S202L|MECOM_uc003ffn.3_Missense_Mutation_p.S201L|MECOM_uc003ffk.2_Missense_Mutation_p.S201L|MECOM_uc003ffl.2_Missense_Mutation_p.S361L|MECOM_uc011bpk.1_Missense_Mutation_p.S201L|MECOM_uc010hwn.2_Missense_Mutation_p.S389L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCAAAGGTTTGAAAACTGAGT	0.388000														54			35		0	0	0.004878	0	0
CAMKV	79012	broad.mit.edu	37	3	49897086	49897086	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:49897086C>T	uc003cxt.1	-	10	1364	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	CAMKV_uc011bcy.1_Missense_Mutation_p.D316N|CAMKV_uc003cxv.1_Missense_Mutation_p.D363N|CAMKV_uc003cxw.1_Missense_Mutation_p.D223N|CAMKV_uc003cxx.1_Missense_Mutation_p.D223N|CAMKV_uc003cxu.2_Missense_Mutation_p.D360N|CAMKV_uc011bcz.1_Missense_Mutation_p.D323N|CAMKV_uc011bda.1_Missense_Mutation_p.D317N	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	391	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCACTTCCATCTGTGGCTGGG	0.617000														158			79		0	0	0.003610	0	0
CXADR	1525	broad.mit.edu	37	21	18933732	18933732	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:18933732C>T	uc002yki.3	+	5	995	c.771C>T	c.(769-771)atC>atT	p.I257I	CXADR_uc002ykh.2_Intron|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Silent_p.I216I|CXADR_uc002ykj.2_Silent_p.I257I	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	257					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GTCTTATCATCTTTTGCTGTC	0.358000														23			10		0	0	0.008291	0	0
TTLL2	83887	broad.mit.edu	37	6	167754237	167754237	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:167754237A>T	uc003qvs.1	+	2	937	c.849A>T	c.(847-849)gaA>gaT	p.E283D		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	283	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTGCCACGGAAAAGTTTGACC	0.403000														102			67		0	0	0.003610	0	0
PRAM1	84106	broad.mit.edu	37	19	8563167	8563167	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:8563167C>T	uc002mkd.3	-	2	1502	c.1439G>A	c.(1438-1440)cGg>cAg	p.R480Q		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	528	Pro-rich.						lipid binding|protein binding	p.R480R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCGGGTCCTCCGTAGATCTGT	0.677000														14			15		0	0	0.007413	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161320	40161320	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:40161320C>T	uc003ayg.3	-	5	1378	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	376										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CTCCTTCACTCGGTCAAATAT	0.443000														60			34		0	0	0.002836	0	0
AGTR1	185	broad.mit.edu	37	3	148459199	148459199	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:148459199G>A	uc003ewg.3	+	3	823	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	AGTR1_uc003ewh.3_Missense_Mutation_p.R126Q|AGTR1_uc003ewi.3_Missense_Mutation_p.R126Q|AGTR1_uc003ewj.3_Missense_Mutation_p.R126Q|AGTR1_uc003ewk.3_Missense_Mutation_p.R126Q|AGTR1_uc021xfj.1_Missense_Mutation_p.R126Q	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	126					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AGCATTGATCGATACCTGGCT	0.507000														145			24		0	0	0.003330	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974679	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:21974679G>A	uc003zpk.3	-	0	454	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Nonsense_Mutation_p.Q50*|CDKN2A_uc010miu.3_Nonsense_Mutation_p.Q50*|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	50			Q -> R (in CMM2).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50*(11)|p.I49M(2)|p.V28_V51del(2)|p.0(1)|p.I49S(1)|p.Q50R(1)|p.I49T(1)|p.I49I(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTC	0.682000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				244			227		0	0	0.003610	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102368210	102368210	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:102368210C>T	uc001yko.3	+	8	1147	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	PPP2R5C_uc010txr.2_Missense_Mutation_p.S367F|PPP2R5C_uc001ykk.3_Missense_Mutation_p.S391F|PPP2R5C_uc010txt.2_Missense_Mutation_p.S326F|PPP2R5C_uc001ykn.3_Missense_Mutation_p.S336F|PPP2R5C_uc001ykp.3_Missense_Mutation_p.S336F|PPP2R5C_uc001ykq.3_Missense_Mutation_p.S234F	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	336					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AAATGTGTCTCCAGCCCACAC	0.448000														67			37		0	0	0.005524	0	0
DNAH7	56171	broad.mit.edu	37	2	196913019	196913020	+	Splice_Site	DNP	CC	TA	TA			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:196913019_196913020CC>TA	uc002utj.4	-	4	351	c.250_splice	c.e4+1	p.A84_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	84	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						GAAGTTCTTACCATGGGACTGT	0.361000														58			17		0	0	0.004672	0	0
DPY19L4	286148	broad.mit.edu	37	8	95782750	95782750	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:95782750C>T	uc003ygx.2	+	12	1529	c.1405C>T	c.(1405-1407)Cat>Tat	p.H469Y		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	469						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AATAATTTATCATGTAATTCA	0.323000														283			100		0	0	0.003610	0	0
IFT57	55081	broad.mit.edu	37	3	107885736	107885736	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:107885736G>A	uc021xcc.1	-	7	1092	c.1039C>T	c.(1039-1041)Caa>Taa	p.Q347*	IFT57_uc003dwx.4_Nonsense_Mutation_p.Q316*	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	316	pDED.				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CGATATTCTTGAACCAAATTC	0.378000														36			20		0	0	0.001523	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68939691	68939691	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:68939691G>A	uc003hdt.1	-	3	368	c.319C>T	c.(319-321)Cga>Tga	p.R107*	LOC550112_uc003hdl.4_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	107	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTGATAAATCGACCGCCTACA	0.249000														18			4		0	0	0.003080	0	0
COL4A1	1282	broad.mit.edu	37	13	110814731	110814731	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:110814731G>A	uc001vqw.4	-	47	4430	c.4308C>T	c.(4306-4308)ccC>ccT	p.P1436P		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1436	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGTGCCTGGGGGCCCCATGG	0.512000														130			46		0	0	0.003610	0	0
EYA1	2138	broad.mit.edu	37	8	72229866	72229866	+	Silent	SNP	T	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:72229866T>A	uc003xyu.3	-	6	1117	c.477A>T	c.(475-477)ggA>ggT	p.G159G	EYA1_uc003xyt.4_Silent_p.G126G|EYA1_uc003xyr.4_Silent_p.G154G|EYA1_uc010lzf.3_Silent_p.G86G|EYA1_uc003xys.4_Silent_p.G159G|EYA1_uc011lfe.2_Silent_p.G153G|EYA1_uc003xyv.3_Silent_p.G37G	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	159					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATCCTGTCTGTCCAGGTGACT	0.458000														148			52		0	0	0.003610	0	0
KCNRG	283518	broad.mit.edu	37	13	50589901	50589901	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:50589901T>G	uc001vdu.3	+	0	512	c.272T>G	c.(271-273)cTt>cGt	p.L91R	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Missense_Mutation_p.L91R|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.	91	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TTCTATGAACTTCGTTCTCTA	0.403000														129			39		0	0	0.006999	0	0
MAP2K3	5606	broad.mit.edu	37	17	21215489	21215489	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:21215489C>T	uc002gys.3	+	9	1075	c.810C>T	c.(808-810)tcC>tcT	p.S270S	MAP2K3_uc002gyt.3_Silent_p.S241S|MAP2K3_uc021tsq.1_Silent_p.S241S|MAP2K3_uc021tsr.1_Silent_p.S241S	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	270	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CTTACGAGTCCTGGGGGACCC	0.657000														39			15		0	0	0.002450	0	0
GPX6	257202	broad.mit.edu	37	6	28472256	28472256	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:28472256G>A	uc021yrx.1	-	4	529	c.479C>T	c.(478-480)tCt>tTt	p.S160F	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	160					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CAAAAGATCAGAGGTCGGAGG	0.448000														47			33		0	0	0.002836	0	0
DNAH3	55567	broad.mit.edu	37	16	21136654	21136656	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:21136654_21136656TC>GT	uc010vbe.2	-	8	1244_1246	c.1244_1246GA>AC	c.(1243-1248)cggaag>cACag	p.415_416RK>H	DNAH3_uc002die.2_Missense_Mutation_p.386_387RK>H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	415	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGTGCTCCTTCCGTGAGGTAAA	0.507000														92			12		0	0	0.004672	0	0
C16orf62	57020	broad.mit.edu	37	16	19580782	19580782	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:19580782G>A	uc002dgn.2	+	2	469	c.154G>A	c.(154-156)Gga>Aga	p.G52R	C16orf62_uc002dgo.2_Missense_Mutation_p.G141R|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_Missense_Mutation_p.G141R	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	52						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GAACCGGAAAGGAAGCACTTC	0.542000														45			33		0	0	0.003271	0	0
NBPF14	25832	broad.mit.edu	37	1	148017601	148017601	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:148017601G>A	uc001eqq.3	-	5	714	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Missense_Mutation_p.L568F|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Missense_Mutation_p.L107F|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc021owd.1_Missense_Mutation_p.L107F	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	228	NBPF 2.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GGAATTGAGAGAGTCGAATAA	0.498000														434			51		0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	21063184	21063184	+	Missense_Mutation	SNP	C	T	T	rs143443640	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:21063184C>T	uc010vbe.2	-	28	4045	c.4045G>A	c.(4045-4047)Gac>Aac	p.D1349N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1349	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCACCACGTCGCGGGCTGTT	0.517000														80			41		0	0	0.007835	0	0
OR4C6	219432	broad.mit.edu	37	11	55433515	55433515	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:55433515G>A	uc010rik.2	+	0	873	c.873G>A	c.(871-873)gaG>gaA	p.E291E		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E291D(2)|p.E291K(1)		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						GGAATGCAGAGGTGAAAAGTG	0.458000														30			17		0	0	0.006122	0	0
HBG1	3047	broad.mit.edu	37	11	5269643	5269643	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5269643G>A	uc001mai.1	-	2	827	c.390C>T	c.(388-390)tcC>tcT	p.S130S	HBG1_uc001mah.1_Silent_p.S130S	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	130					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCTGCCAGGAAGCCTGCA	0.502000														50			13		0	0	0.003163	0	0
DNAH5	1767	broad.mit.edu	37	5	13920716	13920716	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:13920716C>T	uc003jfd.2	-	5	713	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	224	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R224Q(4)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCACACTTTCGAAGGTTCAC	0.393000									Kartagener syndrome					43			22		0	0	0.002780	0	0
INHBA	3624	broad.mit.edu	37	7	41730115	41730115	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:41730115G>A	uc003thq.3	-	1	649	c.414C>T	c.(412-414)ttC>ttT	p.F138F	INHBA_uc003thr.3_Silent_p.F138F	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	138					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGGAAATCTCGAAGTGCAGCG	0.483000										TSP Lung(11;0.080)				37			7		0	0	0.003080	0	0
ATP1B4	23439	broad.mit.edu	37	X	119500469	119500469	+	Silent	SNP	G	A	A	rs145284908		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:119500469G>A	uc004esr.3	+	1	237	c.153G>A	c.(151-153)tcG>tcA	p.S51S	ATP1B4_uc004esq.3_Silent_p.S51S|ATP1B4_uc011mtx.2_Silent_p.S51S|ATP1B4_uc011mty.2_Silent_p.S51S	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	51	Glu-rich.				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGCCCAAATCggaggaggagg	0.542000														23			28		0	0	0.005443	0	0
CAPSL	133690	broad.mit.edu	37	5	35910557	35910557	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:35910557C>T	uc003jjt.1	-	2	321	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	CAPSL_uc003jju.1_Missense_Mutation_p.E76K	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	76	EF-hand 2.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCTTCTTTTTCCATGACCACA	0.338000														52			19		0	0	0.008871	0	0
CSMD1	64478	broad.mit.edu	37	8	2964062	2964062	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:2964062G>A	uc022aqr.1	-	45	7327	c.6937C>T	c.(6937-6939)Cca>Tca	p.P2313S	CSMD1_uc011kwj.2_Missense_Mutation_p.P1706S|CSMD1_uc010lrg.3_Missense_Mutation_p.P382S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2314	Sushi 13.					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)		TCACATGTTGGGAGAGAACCC	0.423000														17			7		0	0	0.003080	0	0
NFATC2	4773	broad.mit.edu	37	20	50140306	50140306	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:50140306G>A	uc002xwd.3	-	1	694	c.474C>T	c.(472-474)ttC>ttT	p.F158F	NFATC2_uc002xwc.3_Silent_p.F158F|NFATC2_uc010zyv.2_Intron|NFATC2_uc010zyw.2_Intron|NFATC2_uc002xwe.3_Silent_p.F138F|NFATC2_uc010zyx.2_Silent_p.F138F|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	158	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGTAGCCCTCGAAGCCGGGCA	0.706000														17			6		0	0	0.001168	0	0
KCNK9	51305	broad.mit.edu	37	8	140630786	140630786	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:140630786C>T	uc003yvf.1	-	1	904	c.840G>A	c.(838-840)cgG>cgA	p.R280R	KCNK9_uc003yvg.1_Silent_p.R280R|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	280						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.R280W(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GCCGGCTGGGCCGCGGCTCCT	0.652000														70			18		0	0	0.001523	0	0
THBS1	7057	broad.mit.edu	37	15	39874765	39874765	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:39874765C>T	uc001zkh.3	+	2	618	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	147	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGAAGAAGCTCTCCTGGCAAC	0.577000														23			16		0	0	0.006122	0	0
MYCT1	80177	broad.mit.edu	37	6	153042931	153042931	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:153042931G>A	uc003qpc.4	+	1	259	c.251G>A	c.(250-252)gGa>gAa	p.G84E		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	84						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GTACTTGGAGGATTTATTTGG	0.418000														53			28		0	0	0.005443	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	Missense_Mutation	SNP	C	T	T	rs111700178	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:1593264C>T	uc010itg.1	-	1	273	c.196G>A	c.(196-198)Gca>Aca	p.A66T	SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		AGGGCACATGCCTGACCAAAG	0.557000														36			4		0	0	0.000602	0	0
ANK2	287	broad.mit.edu	37	4	114260454	114260454	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:114260454C>T	uc003ibe.4	+	31	3969	c.3869C>T	c.(3868-3870)tCc>tTc	p.S1290F	ANK2_uc003ibd.4_Missense_Mutation_p.S1281F|ANK2_uc003ibf.4_Missense_Mutation_p.S1290F|ANK2_uc011cgc.2_Missense_Mutation_p.S466F|ANK2_uc003ibg.4_Missense_Mutation_p.S285F|ANK2_uc003ibh.4_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.S1305F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1257					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAATGTGTTTCCTTTACAACA	0.373000														40			29		0	0	0.003755	0	0
CDHR3	222256	broad.mit.edu	37	7	105672847	105672847	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:105672847G>A	uc003vdl.4	+	18	2470	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	CDHR3_uc003vdk.3_3'UTR|CDHR3_uc003vdm.4_Missense_Mutation_p.E775K|CDHR3_uc011klt.2_Missense_Mutation_p.E700K|CDHR3_uc003vdn.3_3'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	788					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGTGACCGGGGAAACATATGA	0.453000														19			3		0	0	0.004672	0	0
SYT15	83849	broad.mit.edu	37	10	46965844	46965844	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:46965844G>A	uc001jea.3	-	4	846	c.693C>T	c.(691-693)tcC>tcT	p.S231S	SYT15_uc001jdz.2_Silent_p.S231S|SYT15_uc001jeb.3_Silent_p.S109S|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	231	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CGTGGTAGACGGAGAACTTCA	0.617000														43			6		0	0	0.001168	0	0
MEOX1	4222	broad.mit.edu	37	17	41720979	41720979	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:41720979C>A	uc002idz.3	-	1	548	c.519G>T	c.(517-519)aaG>aaT	p.K173N	MEOX1_uc002iea.3_Intron|MEOX1_uc002ieb.3_Missense_Mutation_p.K58N	NM_004527	NP_001035091	P50221	MEOX1_HUMAN	Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA.	173						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CCGTCCTCTCCTTGCGGGCTT	0.582000														30			13		7.93312e-07	1.1133e-06	0.002450	1	0
GRIN2A	2903	broad.mit.edu	37	16	9943662	9943662	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:9943662C>T	uc010uym.2	-	5	1589	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	GRIN2A_uc002czo.4_Missense_Mutation_p.E427K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E270K|GRIN2A_uc002czr.4_Missense_Mutation_p.E427K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	427					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T426T(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACACACGTCTCGGTCAGGGGG	0.547000														72			17		0	0	0.008871	0	0
DACH2	117154	broad.mit.edu	37	X	85769311	85769311	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:85769311C>T	uc004eew.2	+	2	727	c.557C>T	c.(556-558)tCt>tTt	p.S186F	DACH2_uc004eex.2_Missense_Mutation_p.S173F|DACH2_uc010nmq.2_Missense_Mutation_p.S52F|DACH2_uc011mra.1_Missense_Mutation_p.S19F|DACH2_uc010nmr.2_5'UTR	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.R185P(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCTAAGCGTTCTTTGGGAGTG	0.448000														13			7		0	0	0.004482	0	0
OR2J3	442186	broad.mit.edu	37	6	29079827	29079827	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:29079827C>T	uc011dll.2	+	0	160	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CCTGTCATACCTGGACTCCCA	0.438000														250			69		0	0	0.003610	0	0
TMEM55B	90809	broad.mit.edu	37	14	20926768	20926768	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:20926768G>A	uc001vxk.2	-	6	958	c.805C>T	c.(805-807)Ctt>Ttt	p.L269F	TMEM55B_uc001vxl.2_Missense_Mutation_p.L262F	NM_001100814	NP_001094284	Q86T03	TM55B_HUMAN	Homo sapiens transmembrane protein 55B (TMEM55B), transcript variant 1, mRNA.	262						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	p.V269L(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GCCCAATAAAGAGCCCGGCCC	0.567000														48			17		0	0	0.004007	0	0
KCNQ5	56479	broad.mit.edu	37	6	73902301	73902301	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:73902301C>T	uc011dyh.2	+	13	2127	c.1780C>T	c.(1780-1782)Ctt>Ttt	p.L594F	KCNQ5_uc011dyi.2_Missense_Mutation_p.L585F|KCNQ5_uc010kat.3_Missense_Mutation_p.L566F|KCNQ5_uc003pgk.3_Missense_Mutation_p.L575F|KCNQ5_uc011dyj.2_Missense_Mutation_p.L465F|KCNQ5_uc011dyk.2_Missense_Mutation_p.L325F	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	575					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.L575V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGATCAAATTCTTGGAAAAGG	0.418000														65			36		0	0	0.005524	0	0
RGPD3	653489	broad.mit.edu	37	2	107040948	107040948	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:107040948C>T	uc010ywi.1	-	19	3532	c.3475G>A	c.(3475-3477)Gaa>Aaa	p.E1159K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1159	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGCTTGAATTCTTCAGCCAGC	0.438000														117			64		0	0	0.003610	0	0
DDR1	780	broad.mit.edu	37	6	30862382	30862383	+	Missense_Mutation	DNP	CC	TT	TT	rs150721017	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:30862382_30862383CC>TT	uc003nrv.3	+	9	1489_1490	c.1447_1448CC>TT	c.(1447-1449)ccg>TTg	p.P483L	DDR1_uc010jse.3_Missense_Mutation_p.P483L|DDR1_uc003nrq.3_Missense_Mutation_p.P483L|DDR1_uc003nrr.3_Missense_Mutation_p.P483L|DDR1_uc003nrs.3_Missense_Mutation_p.P483L|DDR1_uc003nrt.3_Missense_Mutation_p.P483L|DDR1_uc011dms.2_Missense_Mutation_p.P501L|DDR1_uc003nru.3_Missense_Mutation_p.P483L|DDR1_uc003nry.2_Missense_Mutation_p.P483L|DDR1_uc003nrx.2_Missense_Mutation_p.R456C|DDR1_uc003nrw.1_Missense_Mutation_p.R255C	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	483	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGAGCCACCCCCGTACCAGGAG	0.629000														102			50		0	0	0.004672	0	0
FMNL3	91010	broad.mit.edu	37	12	50045849	50045849	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:50045849G>A	uc001ruv.1	-	13	1704	c.1470C>T	c.(1468-1470)ggC>ggT	p.G490G	FMNL3_uc001ruw.1_Silent_p.G439G|FMNL3_uc001rut.1_Silent_p.G56G|FMNL3_uc001ruu.1_Silent_p.G340G	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	490					actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCTCTGCAGGGCCTACTCTGG	0.617000														18			12		0	0	0.001368	0	0
UGT2B17	7367	broad.mit.edu	37	4	69431408	69431408	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:69431408C>T	uc021xov.1	-	1	798	c.755G>A	c.(754-756)gGg>gAg	p.G252E		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	252					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TTCAGCTTTCCCCATTGTCTC	0.358000														67			24		0	0	0.005443	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954470	12954470	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:12954470C>T	uc001auo.3	-	2	886	c.813G>A	c.(811-813)atG>atA	p.M271I		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	271										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATATAAAGCATCTGGGGGT	0.468000														227			30		0	0	0.002222	0	0
ETV1	2115	broad.mit.edu	37	7	13975376	13975376	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:13975376G>A	uc021zzz.1	-	5	598	c.511C>T	c.(511-513)Cca>Tca	p.P171S	ETV1_uc021zzt.1_Missense_Mutation_p.P131S|ETV1_uc021zzu.1_Intron|ETV1_uc021zzv.1_Missense_Mutation_p.P113S|ETV1_uc021zzw.1_Missense_Mutation_p.P131S|ETV1_uc021zzx.1_Intron|ETV1_uc021zzy.1_Missense_Mutation_p.P113S|ETV1_uc022aaa.1_Missense_Mutation_p.P153S|ETV1_uc022aab.1_Missense_Mutation_p.P171S|ETV1_uc003ssw.4_Missense_Mutation_p.P171S|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.P153S|ETV1_uc022aad.1_Missense_Mutation_p.P153S|ETV1_uc010ktv.3_Missense_Mutation_p.P40S	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	171					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GACTGCGATGGAGGGAGGTGA	0.512000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									225			78		0	0	0.003610	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21897151	21897151	+	Missense_Mutation	SNP	G	A	A	rs144234125		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:21897151G>A	uc002kve.3	-	10	1049	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	OSBPL1A_uc002kvf.3_Missense_Mutation_p.R58C	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	278	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CATCCCTGGCGATAAATATTA	0.348000														50			32		0	0	0.004289	0	0
SLC25A6	293	broad.mit.edu	37	X	1506175	1506175	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:1506175C>T	uc004cpt.3	-	2	873	c.736G>A	c.(736-738)Gga>Aga	p.G246R	CRLF2_uc022brt.1_Intron	NM_001636	NP_001627	P12236	ADT3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 (SLC25A6), nuclear gene encoding mitochondrial protein, mRNA.	246					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CGAGTACCTCCTTTGCGCCCG	0.672000														97			41		0	0	0.003610	0	0
GCFC2	6936	broad.mit.edu	37	2	75933673	75933673	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:75933673C>T	uc002sno.3	-	1	500	c.370G>A	c.(370-372)Gga>Aga	p.G124R	GCFC2_uc002snn.3_5'UTR|GCFC2_uc010fft.3_5'UTR|GCFC2_uc002snp.4_Missense_Mutation_p.G124R	NM_003203	NP_001188263	P16383	GCF_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2), transcript variant 1, mRNA.	124					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TCTTTTTCTCCAAGAGAGCTA	0.318000														54			20		0	0	0.001882	0	0
ADAM21	8747	broad.mit.edu	37	14	70924293	70924293	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:70924293C>T	uc021rvq.1	+	0	77	c.77C>T	c.(76-78)tCc>tTc	p.S26F	ADAM21_uc001xmd.3_Missense_Mutation_p.S26F	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	26					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTGTCTATTTCCGGCTACTGT	0.542000														155			46		0	0	0.003214	0	0
PRAM1	84106	broad.mit.edu	37	19	8564341	8564341	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:8564341C>T	uc002mkd.3	-	1	414	c.351G>A	c.(349-351)aaG>aaA	p.K117K		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	165	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TGGACGGCTTCTTGGGGAGGT	0.647000														98			83		0	0	0.003610	0	0
GJB5	2709	broad.mit.edu	37	1	35223285	35223285	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:35223285G>A	uc001bxu.3	+	1	454	c.354G>A	c.(352-354)ctG>ctA	p.L118L	GJB5_uc021okz.1_Silent_p.L118L|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	118					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GCCTCTACCTGAACCCCGGCA	0.597000														95			39		0	0	0.005524	0	0
ZNF90	7643	broad.mit.edu	37	19	20215074	20215074	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:20215074C>T	uc002nor.2	+	1	169	c.30C>T	c.(28-30)gcC>gcT	p.A10A	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	10	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GAGATGTGGCCATAGAATTCT	0.418000														42			28		0	0	0.003755	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626826	140626826	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140626826C>T	uc003lje.3	+	0	1680	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	560	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.F560F(2)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTACC	0.721000														34			15		0	0	0.007413	0	0
ATHL1	80162	broad.mit.edu	37	11	293704	293704	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:293704C>T	uc010qvu.2	+	9	1706	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S	ATHL1_uc001lor.4_Missense_Mutation_p.P283S|ATHL1_uc001lou.4_Missense_Mutation_p.P106S|ATHL1_uc001lov.4_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	531					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTGACGTCCCCCCAGGGCCC	0.622000														89			47		0	0	0.003610	0	0
ICAM2	3384	broad.mit.edu	37	17	62081054	62081054	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:62081054C>T	uc002jdu.4	-	2	831	c.599G>A	c.(598-600)gGt>gAt	p.G200D	C17orf72_uc002jdt.4_3'UTR|C17orf72_uc021ubo.1_3'UTR|C17orf72_uc010wpw.2_3'UTR|C17orf72_uc010wpu.2_3'UTR|C17orf72_uc010wpv.2_3'UTR|ICAM2_uc002jdw.4_Missense_Mutation_p.G200D|ICAM2_uc010ded.3_Missense_Mutation_p.G200D|ICAM2_uc002jdx.4_Missense_Mutation_p.G200D|ICAM2_uc002jdv.4_Missense_Mutation_p.G200D	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	200					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	p.G200D(2)		large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GATGTTGCCACCGCGAGACAT	0.567000														60			11		0	0	0.000978	0	0
DEFB125	245938	broad.mit.edu	37	20	76674	76674	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:76674G>A	uc002wcw.3	+	1	87	c.87G>A	c.(85-87)aaG>aaA	p.K29K		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	29					defense response to bacterium	extracellular region		p.K29M(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			AATGTTGGAAGAATAATGTAG	0.323000														95			52		0	0	0.003610	0	0
SCN7A	6332	broad.mit.edu	37	2	167328849	167328849	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:167328849C>T	uc002udu.2	-	4	680	c.550G>A	c.(550-552)Gat>Aat	p.D184N	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	184					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACGCTGAAATCGAGCCAGTTC	0.353000														14			10		0	0	0.000978	0	0
SPRR1B	6699	broad.mit.edu	37	1	153005062	153005062	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:153005062C>T	uc001fba.3	+	1	305	c.241C>T	c.(241-243)Cca>Tca	p.P81S	SPRR1B_uc021ozp.1_Missense_Mutation_p.P81S	NM_003125	NP_003116	P22528	SPR1B_HUMAN	Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA.	81					keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCAGCACCAGCCCAGCA	0.607000														48			18		0	0	0.006122	0	0
ULK4	54986	broad.mit.edu	37	3	41996125	41996125	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:41996125T>A	uc003ckv.4	-	1	328	c.127A>T	c.(127-129)Ata>Tta	p.I43L	ULK4_uc003ckw.2_Missense_Mutation_p.I43L|ULK4_uc003ckx.1_Missense_Mutation_p.I43L	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	43	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAGTTGGTTATTTCAGGCCTT	0.423000														78			33		0	0	0.003271	0	0
MUC17	140453	broad.mit.edu	37	7	100685611	100685611	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:100685611C>T	uc003uxp.1	+	2	10967	c.10914C>T	c.(10912-10914)acC>acT	p.T3638T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3638	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCATTAACCATTATGCCTG	0.488000														104			26		0	0	0.005443	0	0
NCOR2	9612	broad.mit.edu	37	12	124825290	124825290	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:124825290G>A	uc021rga.1	-	34	5334	c.5217C>T	c.(5215-5217)atC>atT	p.I1739I	NCOR2_uc021rgb.1_Silent_p.I1723I|NCOR2_uc010tbb.2_Silent_p.I1732I|NCOR2_uc010tbc.2_Silent_p.I1722I|NCOR2_uc021rgc.1_Silent_p.I1722I|NCOR2_uc010tba.2_Silent_p.I1740I|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1740					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|Notch binding|histone deacetylase 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)		GGGACAGGTCGATGATGCCTG	0.697000														12			5		0	0	0.001168	0	0
FREM2	341640	broad.mit.edu	37	13	39263503	39263503	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:39263503C>T	uc001uwv.3	+	0	2331	c.2022C>T	c.(2020-2022)gtC>gtT	p.V674V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	674					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATTTAGAGTCCAGGATAACC	0.562000														90			35		0	0	0.004289	0	0
MRPL37	51253	broad.mit.edu	37	1	54681876	54681876	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:54681876C>T	uc001cxa.4	+	5	1130	c.1053C>T	c.(1051-1053)gtC>gtT	p.V351V	MRPL37_uc009vzp.3_Silent_p.V220V	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	Homo sapiens mitochondrial ribosomal protein L37 (MRPL37), nuclear gene encoding mitochondrial protein, mRNA.	351					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						ATGGACGTGTCTTCCATTTCC	0.522000														115			45		0	0	0.003610	0	0
GNB3	2784	broad.mit.edu	37	12	6954844	6954844	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:6954844C>T	uc001qrd.3	+	9	1199	c.794C>T	c.(793-795)tCc>tTc	p.S265F	GNB3_uc001qrc.3_Missense_Mutation_p.S221F|GNB3_uc009zfe.3_Missense_Mutation_p.S264F|CDCA3_uc001qre.2_3'UTR|CDCA3_uc001qrf.1_Non-coding_Transcript	NM_002075	NP_002066	P16520	GBB3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA.	265					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ATCTGCTTCTCCCACGAGAGC	0.597000														150			62		0	0	0.003610	0	0
MGAT4A	11320	broad.mit.edu	37	2	99294786	99294786	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:99294786A>C	uc002sze.3	-	2	557	c.243T>G	c.(241-243)gaT>gaG	p.D81E	MGAT4A_uc010fil.3_5'UTR	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA.	81					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|extracellular region|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						TATTCAACGCATCCTTACTTC	0.289000														59			20		0	0	0.001882	0	0
C2CD3	26005	broad.mit.edu	37	11	73824918	73824918	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:73824918G>A	uc001ouu.2	-	10	1977	c.1750C>T	c.(1750-1752)Cac>Tac	p.H584Y	C2CD3_uc001ouv.2_Missense_Mutation_p.H584Y	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	584						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACAGGAAAGTGATATTCTACA	0.353000														47			18		0	0	0.007413	0	0
TIMP3	7078	broad.mit.edu	37	22	33255299	33255299	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:33255299T>A	uc003anb.3	+	4	1757	c.571T>A	c.(571-573)Tac>Aac	p.Y191N	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	191			Y -> C (in SFD).		negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						GAAGGGCGGCTACTGCAGCTG	0.592000														56			14		0	0	0.002450	0	0
MAST2	23139	broad.mit.edu	37	1	46497984	46497984	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:46497984C>T	uc001cov.3	+	24	3605	c.3322C>T	c.(3322-3324)Cac>Tac	p.H1108Y	MAST2_uc001cow.3_Missense_Mutation_p.H1108Y|MAST2_uc001cpa.3_Intron	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1108	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CATCATCATCCACCGAGCTGG	0.572000														38			21		0	0	0.001523	0	0
DSCAM	1826	broad.mit.edu	37	21	42080586	42080586	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:42080586G>A	uc002yyq.1	-	1	607	c.155C>T	c.(154-156)cCt>cTt	p.P52L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	52	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGTCACAGGAGGGATGCCTGC	0.597000														136			44		0	0	0.002522	0	0
ROR2	4920	broad.mit.edu	37	9	94486143	94486143	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:94486143G>A	uc004arj.2	-	8	2832	c.2633C>T	c.(2632-2634)cCc>cTc	p.P878L	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	878	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGTGTTGGAGGGGGCCGTGGT	0.647000														66			59		0	0	0.003610	0	0
ABCB11	8647	broad.mit.edu	37	2	169787195	169787195	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:169787195C>T	uc002ueo.1	-	24	3517	c.3391G>A	c.(3391-3393)Gat>Aat	p.D1131N	ABCB11_uc010zda.1_Missense_Mutation_p.D573N|ABCB11_uc010zdb.1_Missense_Mutation_p.D607N	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1131	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGATCAGGATCATAGAAACGT	0.473000														26			9		0	0	0.006214	0	0
HSD3B2	3284	broad.mit.edu	37	1	119958096	119958096	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:119958096C>T	uc001ehs.3	+	0	827	c.54C>T	c.(52-54)atC>atT	p.I18I	HSD3B2_uc021ost.1_Silent_p.I18I|HSD3B2_uc001eht.3_Silent_p.I18I|HSD3B2_uc001ehu.3_Silent_p.I18I	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	18					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GTCAGAGGATCGTCCGCCTGT	0.512000														67			33		0	0	0.002096	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	G	G	rs141732548	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000														49			7		0	0	0.004482	0	0
RNF130	55819	broad.mit.edu	37	5	179440119	179440119	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:179440119C>T	uc003mll.1	-	2	1042	c.635G>A	c.(634-636)tGg>tAg	p.W212*	RNF130_uc003mlm.1_Nonsense_Mutation_p.W212*	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	212					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAATATGAGCCATGCTGAAGA	0.438000														93			47		0	0	0.003214	0	0
SEMA3C	10512	broad.mit.edu	37	7	80427444	80427444	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:80427444G>A	uc011kgw.2	-	10	1228	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S	SEMA3C_uc003uhj.3_Silent_p.S365S|SEMA3C_uc011kgx.1_Silent_p.S217S	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	365	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGCCCTGATAGGAAATCAGCT	0.398000														45			12		0	0	0.001855	0	0
CCNA1	8900	broad.mit.edu	37	13	37014168	37014168	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:37014168G>A	uc001uvr.4	+	5	1296	c.946G>A	c.(946-948)Gat>Aat	p.D316N	CCNA1_uc010teo.2_Missense_Mutation_p.D272N|CCNA1_uc010abq.3_Missense_Mutation_p.D272N|CCNA1_uc010abp.3_Missense_Mutation_p.D272N|CCNA1_uc001uvs.4_Missense_Mutation_p.D315N|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	316					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	p.T315T(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CTATATCACCGATGATACATA	0.383000														65			38		0	0	0.006230	0	0
EPHA4	2043	broad.mit.edu	37	2	222294835	222294835	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:222294835G>A	uc002vmq.3	-	14	2575	c.2533C>T	c.(2533-2535)Cct>Tct	p.P845S	EPHA4_uc002vmr.2_Missense_Mutation_p.P845S|EPHA4_uc010zlm.1_Missense_Mutation_p.P786S	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	845	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCCATTGGAGGGGGTAACCGA	0.512000														92			24		0	0	0.003954	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997471	19997471	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:19997471C>T	uc002ktv.1	-	0	408	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	102						integral to membrane		p.E102K(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTCAGCTTTTCGCAGGTTGCC	0.363000														160			116		0	0	0.003610	0	0
ODZ3	55714	broad.mit.edu	37	4	183635324	183635324	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:183635324G>A	uc003ivd.1	+	11	2381	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K	ODZ3_uc003ive.1_Missense_Mutation_p.R175K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	769	EGF-like 8.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCTGGATGGAGAGGAGCAGGC	0.507000														56			19		0	0	0.001523	0	0
OR2W1	26692	broad.mit.edu	37	6	29012196	29012196	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:29012196C>T	uc003nlw.2	-	0	757	c.757G>A	c.(757-759)Gga>Aga	p.G253R	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ATAATAGTTCCATAGAACATA	0.448000														95			18		0	0	0.006122	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509188	110509188	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:110509188C>T	uc003yne.3	+	63	10472	c.10368C>T	c.(10366-10368)gcC>gcT	p.A3456A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3456					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)			ACAATGAAGCCCATGGAGGTT	0.378000										HNSCC(38;0.096)				79			28		0	0	0.006320	0	0
MSRB3	253827	broad.mit.edu	37	12	65847568	65847568	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:65847568C>T	uc001ssn.3	+	4	500	c.374C>T	c.(373-375)tCc>tTc	p.S125F	MSRB3_uc009zqp.3_Missense_Mutation_p.S118F|MSRB3_uc001ssm.3_Missense_Mutation_p.S118F|MSRB3_uc021qzy.1_Missense_Mutation_p.S118F	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	125					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GATGACTTTTCCTATGGGATG	0.458000														92			29		0	0	0.002096	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562409	140562409	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140562409G>A	uc003liv.3	+	0	1430	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	92	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCTAGATCGAGAGGAGCTA	0.463000														40			18		0	0	0.007413	0	0
SLC13A1	6561	broad.mit.edu	37	7	122768996	122768996	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:122768996G>A	uc003vkm.3	-	9	1061	c.1036C>T	c.(1036-1038)Caa>Taa	p.Q346*	SLC13A1_uc010lks.3_Nonsense_Mutation_p.Q222*	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	346						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.Q346K(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACAATTTCTTGATACCTGTGG	0.418000														15			5		0	0	0.000602	0	0
HRH4	59340	broad.mit.edu	37	18	22057250	22057250	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:22057250G>A	uc002kvi.3	+	2	997	c.897G>A	c.(895-897)agG>agA	p.R299R	HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Silent_p.R211R	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	299						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TTAGAGCCAGGAGATTAGCCA	0.423000														139			80		0	0	0.003610	0	0
SF3A1	10291	broad.mit.edu	37	22	30741175	30741175	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:30741175T>G	uc003ahl.3	-	3	530	c.398A>C	c.(397-399)cAa>cCa	p.Q133P	SF3A1_uc021wnt.1_Intron	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	133					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TACTTGGGCTTGGACCTAAGA	0.572000														122			67		0	0	0.003610	0	0
MXRA5	25878	broad.mit.edu	37	X	3241070	3241070	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:3241070C>T	uc004crg.4	-	4	2813	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	886						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAACAACTTCCTCCAGAGGT	0.478000														33			38		0	0	0.006999	0	0
PASD1	139135	broad.mit.edu	37	X	150832698	150832698	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:150832698G>A	uc004fev.4	+	10	1281	c.949G>A	c.(949-951)Gag>Aag	p.E317K		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	317						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGACCAGGAGGGCCCAAT	0.597000														22			31		0	0	0.008361	0	0
COL5A1	1289	broad.mit.edu	37	9	137716702	137716702	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:137716702G>A	uc004cfe.3	+	62	5336	c.4954_splice	c.e62+1	p.G1652_splice	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1652	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCCCAGATGGTGAGGGCCTG	0.662000														13			10		0	0	0.006214	0	0
ECEL1	9427	broad.mit.edu	37	2	233344935	233344935	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:233344935C>T	uc002vsv.2	-	17	2461	c.2256G>A	c.(2254-2256)gaG>gaA	p.E752E	ECEL1_uc010fya.1_Silent_p.E750E|ECEL1_uc010fyb.1_Silent_p.E459E	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	752					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCCAAACTCCTCAAACTGGG	0.642000														54			10		0	0	0.008291	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518270	45518271	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:45518270_45518271CC>TT	uc002zea.3	+	20	3370_3371	c.3201_3202CC>TT	c.(3199-3204)ccccct>ccTTct	p.P1068S	TRAPPC10_uc010gpo.3_Missense_Mutation_p.P779S|TRAPPC10_uc011afa.2_Missense_Mutation_p.P446S|TRAPPC10_uc011afb.1_Missense_Mutation_p.P173S	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1068					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGATCTTTCCCCCTTCGGGAAT	0.485000														104			45		0	0	0.004672	0	0
AK094599	0	broad.mit.edu	37	2	133070479	133070479	+	RNA	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:133070479C>T	uc002ttk.1	+	2		c.133C>T								Homo sapiens cDNA FLJ37280 fis, clone BRAMY2012881.																		GTTATCTTCACCAAGGAAGAG	0.443000														88			14		0	0	0.002450	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339714	13339714	+	RNA	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:13339714G>A	uc003gms.3	+	0		c.4678G>A								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						AGTTACCAAGGAGGGCCTGGA	0.502000														6			3		0	0	0.004672	0	0
DDX53	168400	broad.mit.edu	37	X	23018892	23018892	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:23018892G>A	uc004daj.3	+	0	815	c.718G>A	c.(718-720)Gta>Ata	p.V240I		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	240						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CATAATAAGGGTAGGGATTGT	0.408000														19			24		0	0	0.002780	0	0
KLHL13	90293	broad.mit.edu	37	X	117035815	117035815	+	Silent	SNP	T	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:117035815T>A	uc011mtp.2	-	6	1603	c.1470A>T	c.(1468-1470)ggA>ggT	p.G490G	KLHL13_uc004eqk.3_Silent_p.G436G|KLHL13_uc004eql.3_Silent_p.G487G|KLHL13_uc011mtn.2_Silent_p.G327G|KLHL13_uc011mto.2_Silent_p.G481G|KLHL13_uc011mtq.2_Silent_p.G471G|KLHL13_uc004eqm.3_Silent_p.G445G|KLHL13_uc022cde.1_Silent_p.G471G	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	487					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACATCACTCCTCCATACACAG	0.353000														20			24		0	0	0.003954	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128887197	128887197	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:128887197G>A	uc004eut.1	+	10	1324	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	360					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	p.K360M(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGAACAGCAAGGAGCAGGCCC	0.557000														59			5		0	0	0.000602	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054272	95054272	+	Silent	SNP	C	T	T	rs1803280		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:95054272C>T	uc001ydm.2	+	2	783	c.573C>T	c.(571-573)ctC>ctT	p.L191L	SERPINA5_uc010ave.2_Silent_p.L191L|SERPINA5_uc001ydn.1_Silent_p.L191L	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	191					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTAAGAACCTCGATAGCAATG	0.458000														125			45		0	0	0.003610	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759225	121759225	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:121759225G>A	uc003ksw.1	+	3	999	c.793G>A	c.(793-795)Gat>Aat	p.D265N	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.D265N|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.D312N|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.D265N	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	265					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GACATTTAGTGATCCTCATGG	0.473000														34			8		0	0	0.003080	0	0
USH2A	7399	broad.mit.edu	37	1	216262415	216262415	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:216262415C>T	uc001hku.1	-	22	5212	c.4825G>A	c.(4825-4827)Gaa>Aaa	p.E1609K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1609	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAATTATTTCATGCCATTTT	0.338000										HNSCC(13;0.011)				71			27		0	0	0.006320	0	0
PIGF	5281	broad.mit.edu	37	2	46842248	46842248	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:46842248G>A	uc002rvd.3	-	1	220	c.56C>T	c.(55-57)tCa>tTa	p.S19L	PIGF_uc002rvc.3_Missense_Mutation_p.S19L|CRIPT_uc002rve.3_5'Flank	NM_002643	NP_002634	Q07326	PIGF_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class F (PIGF), transcript variant 1, mRNA.	19					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TAGGATAATTGAAAATATGCA	0.348000														70			29		0	0	0.002445	0	0
C9orf131	138724	broad.mit.edu	37	9	35042999	35042999	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:35042999G>A	uc003zvw.3	+	1	402	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	C9orf131_uc003zvu.3_Missense_Mutation_p.E77K|C9orf131_uc003zvv.3_Missense_Mutation_p.E52K|C9orf131_uc003zvx.3_Missense_Mutation_p.E90K	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	125										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCCTACCAAAGAAGCTCCCAC	0.542000														44			41		0	0	0.005524	0	0
NPY2R	4887	broad.mit.edu	37	4	156135760	156135760	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:156135760C>T	uc003ioq.3	+	1	1158	c.669C>T	c.(667-669)tcC>tcT	p.S223S	NPY2R_uc003ior.3_Silent_p.S223S|NPY2R_uc021xtm.1_Silent_p.S223S	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	223					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GTCTTTCTTCCTTGTTGATCT	0.448000														103			44		0	0	0.002522	0	0
MYO5C	55930	broad.mit.edu	37	15	52497174	52497174	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:52497174C>T	uc010bff.3	-	37	4870	c.4708G>A	c.(4708-4710)Gag>Aag	p.E1570K	MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1570	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.P1569L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTCACAAGCTCGGGGTCCAGG	0.582000														46			22		0	0	0.001523	0	0
DNAH5	1767	broad.mit.edu	37	5	13769624	13769624	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:13769624C>T	uc003jfd.2	-	56	9748	c.9706G>A	c.(9706-9708)Gat>Aat	p.D3236N	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3236	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGCTTTATCGTTGGCCACT	0.418000									Kartagener syndrome					81			38		0	0	0.002222	0	0
THSD7B	80731	broad.mit.edu	37	2	138033594	138033594	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:138033594G>A	uc002tva.1	+	10	2405	c.2405G>A	c.(2404-2406)aGa>aAa	p.R802K	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.R692K	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.P802T(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTACAAACAAGAGGTATGATG	0.373000														30			15		0	0	0.002450	0	0
RP2	6102	broad.mit.edu	37	X	46719518	46719518	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:46719518C>T	uc004dgw.4	+	2	1053	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_006915	NP_008846	O75695	XRP2_HUMAN	Homo sapiens retinitis pigmentosa 2 (X-linked recessive) (RP2), mRNA.	288					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell morphogenesis|protein folding|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						CACCTGACTTCCTTCCTCTTC	0.388000														14			24		0	0	0.005443	0	0
DSG1	1828	broad.mit.edu	37	18	28923481	28923481	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:28923481G>A	uc002kwp.3	+	11	1968	c.1756G>A	c.(1756-1758)Gtt>Att	p.V586I	DSG1_uc010xbp.2_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	586					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.V586F(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTTTGAGCCTGTTCCCGAATG	0.483000														99			10		0	0	0.006214	0	0
RYR2	6262	broad.mit.edu	37	1	237754065	237754065	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:237754065G>A	uc001hyl.1	+	30	4053	c.3933G>A	c.(3931-3933)gcG>gcA	p.A1311A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1311	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCGAGTGCGCGGAGGTCTTCT	0.502000														158			58		0	0	0.003610	0	0
NRG3	10718	broad.mit.edu	37	10	84711264	84711264	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:84711264C>T	uc021pvc.1	+	4	1121	c.1094C>T	c.(1093-1095)tCa>tTa	p.S365L	NRG3_uc010qlz.1_Missense_Mutation_p.S364L|NRG3_uc021pvb.1_Intron|NRG3_uc001kco.2_Missense_Mutation_p.S365L|NRG3_uc001kcp.2_Missense_Mutation_p.S144L|NRG3_uc001kcq.2_Missense_Mutation_p.S15L|NRG3_uc021pvd.1_Missense_Mutation_p.S144L|NRG3_uc021pve.1_Missense_Mutation_p.S169L|NRG3_uc021pvf.1_Missense_Mutation_p.S15L|NRG3_uc021pvg.1_Missense_Mutation_p.S169L|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Missense_Mutation_p.S195L|NRG3_uc021pvk.1_5'UTR|NRG3_uc001kcr.2_Missense_Mutation_p.S15L|NRG3_uc021pvl.1_Missense_Mutation_p.S15L	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	365					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)		CTGTCAATTTCATGTATCATC	0.378000														60			39		0	0	0.008740	0	0
RNF149	284996	broad.mit.edu	37	2	101911607	101911607	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:101911607G>A	uc002taz.2	-	1	625	c.497C>T	c.(496-498)cCa>cTa	p.P166L	RNF149_uc002tax.2_Non-coding_Transcript	NM_173647	NP_775918	Q8NC42	RN149_HUMAN	Homo sapiens ring finger protein 149 (RNF149), mRNA.	166	PA.					integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TCTTCCTTTTGGATAGCTAAT	0.393000														44			6		0	0	0.001984	0	0
CD1E	913	broad.mit.edu	37	1	158324216	158324216	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:158324216C>T	uc001fse.3	+	1	401	c.108C>T	c.(106-108)tcC>tcT	p.S36S	CD1E_uc010pid.2_Silent_p.S34S|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Silent_p.S36S|CD1E_uc001fsf.3_Silent_p.S36S|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Silent_p.S36S|CD1E_uc001fsk.3_Silent_p.S36S|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Silent_p.S36S|CD1E_uc001frz.3_Silent_p.S36S|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	36					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGCAGCTGTCCTTCCGCATGC	0.542000														124			52		0	0	0.003610	0	0
DOK1	1796	broad.mit.edu	37	2	74783057	74783058	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:74783057_74783058CC>TT	uc002sms.3	+	3	861_862	c.491_492CC>TT	c.(490-492)gcc>gTT	p.A164V	LOXL3_uc010ffm.1_5'Flank|LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.3_Missense_Mutation_p.A25V|DOK1_uc010ffo.3_Missense_Mutation_p.A25V|DOK1_uc002smt.3_Intron|DOK1_uc002smu.3_Intron|DOK1_uc010yrz.2_Missense_Mutation_p.A153V|DOK1_uc002smw.1_5'UTR	NM_001381	NP_001184189	Q99704	DOK1_HUMAN	Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA.	164	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGACTGAGGCCGCCGAGCGCT	0.639000														62			23		0	0	0.004672	0	0
OR5L1	219437	broad.mit.edu	37	11	55579578	55579578	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:55579578G>A	uc001nhw.1	+	0	636	c.636G>A	c.(634-636)atG>atA	p.M212I		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M212I(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTACCATCATGATCATCCTCA	0.502000														102			20		0	0	0.008871	0	0
HIPK2	28996	broad.mit.edu	37	7	139415944	139415944	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:139415944G>A	uc003vvf.4	-	1	1161	c.890C>T	c.(889-891)cCc>cTc	p.P297L	HIPK2_uc003vvd.4_Missense_Mutation_p.P297L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	297	Interaction with DAXX.|Protein kinase.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTATTTGAGGGGCAAGGGGCT	0.483000														83			40		0	0	0.007835	0	0
FNBP1L	54874	broad.mit.edu	37	1	94016545	94016545	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:94016545C>T	uc010otk.2	+	15	1844	c.1693C>T	c.(1693-1695)Ctc>Ttc	p.L565F	FNBP1L_uc001dpv.3_Missense_Mutation_p.L507F|FNBP1L_uc001dpw.3_Missense_Mutation_p.L507F|FNBP1L_uc010otl.2_Intron	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	565	Interaction with DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1.|Interaction with DNM2 and WASL.|SH3.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGGTGAAGTTCTCTACATTAT	0.388000														18			7		0	0	0.003080	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563949	176563949	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:176563949C>A	uc001gkz.3	+	2	2373	c.1209C>A	c.(1207-1209)tgC>tgA	p.C403*	PAPPA2_uc001gky.1_Nonsense_Mutation_p.C403*|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	403					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGCATCTTGCCGCTCTTTGC	0.592000														89			24		1.55469e-16	2.20893e-16	0.003330	1	0
DSG1	1828	broad.mit.edu	37	18	28934552	28934552	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:28934552C>A	uc002kwp.3	+	14	2605	c.2393C>A	c.(2392-2394)cCa>cAa	p.P798Q	DSG1_uc010xbp.2_Missense_Mutation_p.P157Q	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	798					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGACACCCACCAATCTCCCCA	0.507000														108			10		4.68919e-08	6.58794e-08	0.008291	1	0
C1orf201	90529	broad.mit.edu	37	1	24685076	24685076	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:24685076G>A	uc001bjc.3	-	8	1129	c.962C>T	c.(961-963)tCc>tTc	p.S321F	GRHL3_uc021oiw.1_Intron|C1orf201_uc010oej.2_Silent_p.V107V|C1orf201_uc001bjb.3_Missense_Mutation_p.S229F|C1orf201_uc001bja.3_Missense_Mutation_p.S274F|C1orf201_uc001bjd.3_Missense_Mutation_p.S321F	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	321										breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		GTAGAGGAAGGACTGCTTTCC	0.557000														76			8		0	0	0.004482	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782326	62782326	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:62782326G>A	uc009yon.3	-	1	226	c.105C>T	c.(103-105)aaC>aaT	p.N35N	SLC22A8_uc009yom.3_Intron|SLC22A8_uc001nwo.3_Silent_p.N35N|SLC22A8_uc010rmm.2_Intron|SLC22A8_uc001nwp.2_Silent_p.N35N	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	35					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TCTGCAGCAGGTTGTGGTTGG	0.617000														140			83		0	0	0.003610	0	0
EYA2	2139	broad.mit.edu	37	20	45700823	45700823	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:45700823G>A	uc002xsm.3	+	6	790	c.416_splice	c.e6-1	p.G139_splice	EYA2_uc010ghp.3_Splice_Site_p.G139_splice|EYA2_uc002xsq.3_Splice_Site_p.G139_splice	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	139					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCTTCCCACAGGCACAACAGG	0.502000														20			20		0	0	0.008871	0	0
LRTM2	654429	broad.mit.edu	37	12	1943507	1943507	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:1943507G>A	uc001qjt.2	+	4	1539	c.733G>A	c.(733-735)Gag>Aag	p.E245K	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.E245K|LRTM2_uc010sdx.1_Missense_Mutation_p.E245K|LRTM2_uc001qjv.2_Missense_Mutation_p.E7K	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	245	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGTCCCCATGGAGATGTTCAA	0.592000														54			16		0	0	0.004990	0	0
LTF	4057	broad.mit.edu	37	3	46480832	46480832	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:46480832C>T	uc003cpq.3	-	14	2104	c.1863G>A	c.(1861-1863)cgG>cgA	p.R621R	LTF_uc003fzr.3_Silent_p.R577R|LTF_uc010hjh.3_Silent_p.R619R|LTF_uc003cpr.3_Silent_p.R608R	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	621	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CCTTATCCATCCGAGACACCA	0.552000														73			40		0	0	0.002852	0	0
APCDD1L	164284	broad.mit.edu	37	20	57042501	57042501	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:57042501G>A	uc010zzp.1	-	3	759	c.435C>T	c.(433-435)atC>atT	p.I145I	APCDD1L_uc002xze.1_Silent_p.I134I	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	134						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			TGTGGAAGACGATGCCCACCT	0.751000														17			4		0	0	0.000248	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38673332	38673332	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:38673332G>A	uc002ohk.3	+	15	4891	c.4382G>A	c.(4381-4383)aGa>aAa	p.R1461K		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1461					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGTGGAAGAGAACGGAGGAG	0.637000														25			23		0	0	0.002299	0	0
TRPC6	7225	broad.mit.edu	37	11	101353770	101353770	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:101353770C>T	uc001pgk.4	-	4	1845	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	TRPC6_uc009ywy.3_Missense_Mutation_p.E358K|TRPC6_uc009ywz.1_Missense_Mutation_p.E419K	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	474					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTGCTGGTTTCATTAGGAAGG	0.433000														66			29		0	0	0.006320	0	0
C1orf87	127795	broad.mit.edu	37	1	60499191	60499191	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:60499191C>T	uc001czs.2	-	6	1094	c.986G>A	c.(985-987)cGa>cAa	p.R329Q		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	329							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ATCTTCTTTTCGAAAACTCAG	0.443000														68			21		0	0	0.002780	0	0
SERPINA6	866	broad.mit.edu	37	14	94770782	94770782	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:94770782G>A	uc001ycv.3	-	4	1295	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	397					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.L396P(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCCTCGCCAGGAAAAGGCTGC	0.527000														82			40		0	0	0.002522	0	0
CPT1A	1374	broad.mit.edu	37	11	68552315	68552315	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:68552315C>T	uc001oog.4	-	9	1301	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	CPT1A_uc001oof.4_Silent_p.E377E	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	377					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.E377*(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CCAGCCTGGCCTCCCCGGGCT	0.652000														49			19		0	0	0.001523	0	0
PMFBP1	83449	broad.mit.edu	37	16	72174407	72174407	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:72174407C>T	uc002fcc.4	-	5	883	c.711G>A	c.(709-711)gaG>gaA	p.E237E	PMFBP1_uc002fcd.3_Silent_p.E237E|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.E92E	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	237										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GTTTCTGAGTCTCCTGATGCT	0.428000														124			76		0	0	0.003610	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378005	113378005	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:113378005C>T	uc003eam.3	-	6	2935	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	KIAA2018_uc003eal.3_Missense_Mutation_p.E786K	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	842					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGGAAGCTTTCTAGCAGTCCA	0.478000														48			9		0	0	0.004482	0	0
B3GAT1	27087	broad.mit.edu	37	11	134257506	134257506	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:134257506G>A	uc001qhq.3	-	2	309	c.48C>T	c.(46-48)ccC>ccT	p.P16P	B3GAT1_uc001qhr.3_Silent_p.P16P|B3GAT1_uc010scv.1_Silent_p.P29P	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	16					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GCAGAGTCCAGGGCAGCACGA	0.627000														62			19		0	0	0.002299	0	0
SUSD2	56241	broad.mit.edu	37	22	24584256	24584256	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:24584256C>T	uc002zzn.1	+	13	2449	c.2405C>T	c.(2404-2406)gCg>gTg	p.A802V		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	802					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCGGCGGTTGCGCTCGTCTAT	0.677000														65			22		0	0	0.005443	0	0
TAS1R1	80835	broad.mit.edu	37	1	6631078	6631078	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:6631078C>T	uc001ant.3	+	1	397	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	TAS1R1_uc001anu.3_Nonsense_Mutation_p.Q101*|TAS1R1_uc021ofp.1_Nonsense_Mutation_p.Q23*	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	101					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCTGGGGTACCAGCTGTATGA	0.552000														106			49		0	0	0.003610	0	0
SLC9C1	285335	broad.mit.edu	37	3	111901021	111901021	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:111901021G>A	uc003dyu.3	-	20	2830	c.2608C>T	c.(2608-2610)Ccg>Tcg	p.P870S	SLC9C1_uc011bhu.2_Missense_Mutation_p.P133S|SLC9C1_uc010hqc.3_Missense_Mutation_p.P822S	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	870					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TCTAGCCACGGAATATGATAT	0.259000														73			11		0	0	0.000978	0	0
ANKRD18A	253650	broad.mit.edu	37	9	38586224	38586224	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:38586224C>T	uc004abg.4	-	11	2281	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	ANKRD18A_uc004abf.1_Missense_Mutation_p.D412N	NM_147195	NP_671728	Q8IVF6	AN18A_HUMAN	Homo sapiens ankyrin repeat domain 18A (ANKRD18A), mRNA.	735										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						TTCAGTTGGTCTGTATTTAAG	0.294000														6			5		0	0	0.001984	0	0
MPDZ	8777	broad.mit.edu	37	9	13138031	13138031	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:13138031G>A	uc010mia.1	-	27	4182	c.4125C>T	c.(4123-4125)gtC>gtT	p.V1375V	MPDZ_uc003zky.4_5'Flank|MPDZ_uc010mib.3_Silent_p.V80V|MPDZ_uc010mhx.3_Silent_p.V197V|MPDZ_uc011lmm.2_Silent_p.V234V|MPDZ_uc003zkz.4_Silent_p.V68V|MPDZ_uc010mhz.3_Silent_p.V1342V|MPDZ_uc011lmn.2_Silent_p.V1342V|MPDZ_uc010mhy.3_Silent_p.V1375V|MPDZ_uc003zlb.4_Silent_p.V1375V	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1375	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCACTATGAAGACACTCATCC	0.443000														14			22		0	0	0.003330	0	0
BBOX1	8424	broad.mit.edu	37	11	27147337	27147337	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:27147337G>A	uc001mre.1	+	7	1341	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	BBOX1_uc009yih.1_Missense_Mutation_p.E325K|BBOX1_uc001mrg.1_Missense_Mutation_p.E325K|BBOX1_uc021qfd.1_Missense_Mutation_p.E325K	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	325					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GAACAGCAAAGAATCCAAGTT	0.373000														41			5		0	0	0.003080	0	0
SLC44A2	57153	broad.mit.edu	37	19	10748390	10748390	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:10748390C>T	uc002mpf.3	+	16	1801	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	SLC44A2_uc002mpe.4_Silent_p.F552F|SLC44A2_uc002mpg.1_Silent_p.F274F|SLC44A2_uc002mph.3_Silent_p.F103F|SLC44A2_uc002mpi.3_5'Flank	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	554					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGGAGAAGTTCATCAAATTCC	0.547000														52			42		0	0	0.003214	0	0
TMX3	54495	broad.mit.edu	37	18	66354939	66354939	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:66354939A>C	uc002lkf.3	-	9	836	c.701T>G	c.(700-702)aTg>aGg	p.M234R	TMX3_uc010xez.2_Missense_Mutation_p.M93R	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	234					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GAAGCCATCCATAGCAAGGTA	0.338000														75			36		0	0	0.007835	0	0
INSRR	3645	broad.mit.edu	37	1	156815025	156815025	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:156815025G>A	uc010pht.2	-	11	2579	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	760					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGGATCTCGAAATCCGAGC	0.692000														20			7		0	0	0.001984	0	0
abParts	0	broad.mit.edu	37	15	22473081	22473081	+	RNA	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:22473081C>T	uc001yuj.2	-	6		c.247G>A								Parts of antibodies, mostly variable regions.																		CACTCCAGCCCCTTCCCTGGG	0.572000														174			15		0	0	0.004990	0	0
ERN2	10595	broad.mit.edu	37	16	23722330	23722330	+	Missense_Mutation	SNP	G	A	A	rs139816512		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:23722330G>A	uc002dma.4	-	1	416	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	ERN2_uc010bxp.3_Missense_Mutation_p.L83F|ERN2_uc010bxq.1_5'UTR	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	35					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCTGGCCTGAGAGTATGAACC	0.577000														81			13		0	0	0.002450	0	0
PAK7	57144	broad.mit.edu	37	20	9546826	9546826	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:9546826G>A	uc002wnl.2	-	5	1741	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	PAK7_uc002wnk.2_Missense_Mutation_p.S399F|PAK7_uc002wnj.2_Missense_Mutation_p.S399F|PAK7_uc010gby.1_Missense_Mutation_p.S399F	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	399	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCTCAGGTAGGAAGCCGTGGA	0.602000														90			35		0	0	0.002836	0	0
CHST5	23563	broad.mit.edu	37	16	75564126	75564126	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:75564126G>A	uc002fej.1	-	4	496	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	CHST5_uc002fei.3_Missense_Mutation_p.P53S|CHST5_uc021tlk.1_Missense_Mutation_p.P53S	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	53					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGGGATGAGGGCCCTGGCCGG	0.662000														30			10		0	0	0.000978	0	0
SLC27A6	28965	broad.mit.edu	37	5	128321002	128321002	+	Missense_Mutation	SNP	C	T	T	rs151090767	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:128321002C>T	uc003kuy.3	+	2	1054	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	SLC27A6_uc003kuz.3_Missense_Mutation_p.L220F	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	220					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.C219R(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTCTACTTGTCTTTACATTTT	0.423000														50			16		0	0	0.007413	0	0
CD7	924	broad.mit.edu	37	17	80274553	80274553	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:80274553G>A	uc002kel.1	-	1	496	c.387C>T	c.(385-387)gtC>gtT	p.V129V	CD7_uc010din.3_Silent_p.V129V|CD7_uc010wvk.1_Silent_p.V129V	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	129	Ig-like.				T cell activation|immune response|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CTGTCACCAGGACCAGGGTGC	0.652000														115			18		0	0	0.008871	0	0
RNF112	7732	broad.mit.edu	37	17	19316290	19316290	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:19316290C>T	uc010vyw.2	+	3	652	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	RNF112_uc010vyu.2_Missense_Mutation_p.R141C|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Intron	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	141							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCTGCTGGTTCGCATCAATGC	0.647000														19			5		0	0	0.000602	0	0
PREX2	80243	broad.mit.edu	37	8	68989661	68989661	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:68989661G>A	uc003xxv.1	+	14	1626	c.1599G>A	c.(1597-1599)atG>atA	p.M533I	PREX2_uc003xxu.1_Missense_Mutation_p.M533I|PREX2_uc011lez.1_Missense_Mutation_p.M468I	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	533	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			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						AAGAGGCAATGATATTTGGCG	0.438000														82			31		0	0	0.004878	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866252	131866252	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:131866252G>A	uc003vra.4	-	17	3609	c.3380C>T	c.(3379-3381)tCc>tTc	p.S1127F		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1127	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GATGAGCAGGGACTGGACGTT	0.602000														105			46		0	0	0.003610	0	0
RASSF2	9770	broad.mit.edu	37	20	4776474	4776475	+	Silent	DNP	GG	AA	AA			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:4776474_4776475GG>AA	uc002wld.3	-	3	327_328	c.273_274CC>TT	c.(271-276)aacctg>aaTTtg	p.91_92NL>NL	RASSF2_uc002wlc.3_5'Flank|RASSF2_uc002wlf.3_Silent_p.91_92NL>NL	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	91					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TGAGCCCCCAGGTTACAGCCAG	0.594000														104			42		0	0	0.004672	0	0
EOMES	8320	broad.mit.edu	37	3	27759217	27759217	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:27759217G>A	uc003cdy.3	-	5	1462	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	EOMES_uc003cdx.3_Missense_Mutation_p.R469W|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.R193W	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	469					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R469W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACGCCGTACCGACCTCCAGGG	0.493000														46			20		0	0	0.008871	0	0
RRBP1	6238	broad.mit.edu	37	20	17640802	17640802	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:17640802G>A	uc002wpw.1	-	1	628	c.351C>T	c.(349-351)atC>atT	p.I117I	RRBP1_uc002wpu.3_5'Flank|RRBP1_uc010gcl.1_Intron|RRBP1_uc002wpv.1_Silent_p.I117I|RRBP1_uc021waw.1_Silent_p.I117I|RRBP1_uc010zrq.1_Silent_p.I117I|RRBP1_uc010zrr.1_Silent_p.I117I	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	565					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CAGGAGCAACGATAATGGGGG	0.572000														37			13		0	0	0.003163	0	0
MPPED1	758	broad.mit.edu	37	22	43821049	43821049	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:43821049C>T	uc011apz.2	+	1	498	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	MPPED1_uc011apv.2_Missense_Mutation_p.P20S|MPPED1_uc011apw.2_Intron|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Missense_Mutation_p.P20S	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	20							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGCCCTCCTCCCCTGCGGCCT	0.701000														22			9		0	0	0.004482	0	0
ZNF423	23090	broad.mit.edu	37	16	49670785	49670785	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:49670785G>A	uc002efs.3	-	4	2576	c.2278C>T	c.(2278-2280)Cgc>Tgc	p.R760C	ZNF423_uc010vgn.2_Missense_Mutation_p.R643C	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	760					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R760C(6)|p.F759F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCCTCCTTGCGGAAGTCCCAG	0.597000														27			15		0	0	0.002450	0	0
FAM179A	165186	broad.mit.edu	37	2	29225560	29225560	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:29225560G>A	uc010ezl.3	+	4	937	c.586G>A	c.(586-588)Gac>Aac	p.D196N	FAM179A_uc010ymm.2_Missense_Mutation_p.D196N	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	196							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAGGGCCTGGACCTACCGGG	0.622000														32			11		0	0	0.001368	0	0
UBTD2	92181	broad.mit.edu	37	5	171639076	171639076	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:171639076G>A	uc003mbp.1	-	2	589	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	Homo sapiens ubiquitin domain containing 2 (UBTD2), mRNA.	155	Ubiquitin-like.					cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGCGCAAACGAAGCTGACAT	0.498000														122			31		0	0	0.003755	0	0
PDCD11	22984	broad.mit.edu	37	10	105200065	105200065	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:105200065C>A	uc001kwy.1	+	28	4254	c.4167C>A	c.(4165-4167)aaC>aaA	p.N1389K		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	1389	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACCAGAAGAACCTGGTAGAGC	0.522000														114			54		5.52965e-18	7.87442e-18	0.003610	1	0
USP26	83844	broad.mit.edu	37	X	132161573	132161573	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:132161573C>T	uc011mvf.2	-	0	728	c.676G>A	c.(676-678)Gag>Aag	p.E226K	USP26_uc010nrm.1_Missense_Mutation_p.E226K	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	226					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTCTAACTCTTTTAACTTC	0.363000														12			17		0	0	0.004990	0	0
NLRP3	114548	broad.mit.edu	37	1	247588398	247588398	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:247588398G>A	uc001icr.3	+	4	1791	c.1653G>A	c.(1651-1653)ttG>ttA	p.L551L	NLRP3_uc001ics.3_Silent_p.L551L|NLRP3_uc001icu.3_Silent_p.L551L|NLRP3_uc001icw.3_Silent_p.L551L|NLRP3_uc001icv.3_Silent_p.L551L|NLRP3_uc010pyw.2_Silent_p.L549L|NLRP3_uc001ict.1_Silent_p.L549L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	551					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGAGTCGTTTGAAGCTTCCCA	0.473000														30			13		0	0	0.001368	0	0
CACNA1C	775	broad.mit.edu	37	12	2787022	2787022	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:2787022G>A	uc009zdu.1	+	42	5537	c.5224G>A	c.(5224-5226)Gac>Aac	p.D1742N	CACNA1C_uc001qkc.2_Missense_Mutation_p.D1713N|CACNA1C_uc001qjz.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkd.2_Missense_Mutation_p.D1713N|CACNA1C_uc001qke.2_Missense_Mutation_p.D1683N|CACNA1C_uc001qkf.2_Missense_Mutation_p.D1702N|CACNA1C_uc009zdw.1_Missense_Mutation_p.D1735N|CACNA1C_uc001qkg.2_Missense_Mutation_p.D1700N|CACNA1C_uc001qkh.2_Missense_Mutation_p.D1702N|CACNA1C_uc001qkl.2_Missense_Mutation_p.D1742N|CACNA1C_uc001qkj.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkk.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkn.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkm.2_Missense_Mutation_p.D1683N|CACNA1C_uc001qko.2_Missense_Mutation_p.D1714N|CACNA1C_uc001qkp.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkq.2_Missense_Mutation_p.D1722N|CACNA1C_uc001qku.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkr.2_Missense_Mutation_p.D1711N|CACNA1C_uc001qks.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkt.2_Missense_Mutation_p.D1713N|CACNA1C_uc009zdv.1_Missense_Mutation_p.D1691N|CACNA1C_uc001qkb.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qki.1_Missense_Mutation_p.D1430N|CACNA1C_uc010sea.1_Missense_Mutation_p.D385N|AK093746_uc001qkx.1_Non-coding_Transcript|CACNA1C_uc001qky.1_Missense_Mutation_p.D12N	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1742					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTCTGAAGATGACATCTTCAG	0.592000														73			32		0	0	0.003755	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962888	94962888	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:94962888G>A	uc001ydj.3	-	3	1523	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	243					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R243C(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		ATGCCACTACGGAACATCATG	0.418000														163			51		0	0	0.003610	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988322	103988322	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:103988322C>T	uc001kut.3	+	2	545	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	Homo sapiens ELOVL fatty acid elongase 3 (ELOVL3), mRNA.	128					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.L128L(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		GGTCATAGAACTCGGTGAGTG	0.512000														67			40		0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	71065807	71065807	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:71065807G>A	uc002ezr.3	-	18	2694	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	HYDIN_uc010cfz.2_Missense_Mutation_p.S593F|HYDIN_uc021tkq.1_Missense_Mutation_p.S848F|HYDIN_uc010vmc.2_Missense_Mutation_p.S865F|HYDIN_uc010vmd.2_Missense_Mutation_p.S875F	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	848										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTCCAAAGGGATTTTTTGTG	0.438000														38			6		0	0	0.006214	0	0
NUMA1	4926	broad.mit.edu	37	11	71724032	71724032	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:71724032T>C	uc001orl.1	-	14	4689	c.4517A>G	c.(4516-4518)gAg>gGg	p.E1506G	NUMA1_uc009ysw.1_Missense_Mutation_p.E1069G|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.E1506G|NUMA1_uc001orn.2_Missense_Mutation_p.E1069G|NUMA1_uc009ysx.1_Missense_Mutation_p.E1506G|NUMA1_uc001oro.1_Missense_Mutation_p.E1506G	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1506					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGTCATCACCTCCAGCTCCCG	0.592000			T	RARA	APL									40			24		0	0	0.003954	0	0
MYH2	4620	broad.mit.edu	37	17	10429959	10429959	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:10429959C>T	uc010coi.3	-	29	4272	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1382K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1382					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Y1381C(1)		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						GCGTCCGTCTCGTATTTGGTC	0.532000														118			63		0	0	0.003610	0	0
CEP164	22897	broad.mit.edu	37	11	117253607	117253607	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:117253607A>T	uc001prc.3	+	13	1820	c.1673A>T	c.(1672-1674)gAt>gTt	p.D558V	CEP164_uc001prb.3_Missense_Mutation_p.D561V|CEP164_uc010rxk.1_Missense_Mutation_p.D532V|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_5'Flank	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	558	Glu-rich.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAGGCAGAGGATCCTGAGGAG	0.647000														37			17		0	0	0.004007	0	0
C14orf102	55051	broad.mit.edu	37	14	90756749	90756749	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:90756749G>A	uc001xyi.2	-	9	2278	c.2045C>T	c.(2044-2046)cCt>cTt	p.P682L	C14orf102_uc010atp.1_Missense_Mutation_p.P187L|C14orf102_uc001xyj.2_Missense_Mutation_p.P451L	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	682							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		AGAAAACAAAGGGTTGAAAAA	0.502000														28			15		0	0	0.004007	0	0
NLGN2	57555	broad.mit.edu	37	17	7311998	7311998	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:7311998C>T	uc002ggt.1	+	0	497	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	142					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CGAGGACTGCCTGTACCTCAA	0.652000														21			12		0	0	0.001855	0	0
ORC6	23594	broad.mit.edu	37	16	46726457	46726457	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:46726457G>A	uc002eeh.3	+	3	419	c.359_splice	c.e3+1	p.S120_splice	ORC6_uc002eeg.1_Splice_Site_p.S120_splice|ORC6_uc010cbe.2_Splice_Site_p.S71_splice|ORC6_uc021thp.1_Splice_Site_p.S71_splice	NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN	Homo sapiens origin recognition complex, subunit 6 (ORC6), transcript variant 1, mRNA.	120					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						ATACTAAAAAGGTATGGGGCA	0.448000														62			34		0	0	0.002096	0	0
EPC2	26122	broad.mit.edu	37	2	149528411	149528412	+	Missense_Mutation	DNP	TT	AA	AA			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:149528411_149528412TT>AA	uc010zbt.2	+	8	1308_1309	c.1281_1282TT>AA	c.(1279-1284)gatttg>gaAAtg	p.427_428DL>EM		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	427					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AATTGGCAGATTTGGATAAGTT	0.396000														75			26		0	0	0.004672	0	0
SLC15A3	51296	broad.mit.edu	37	11	60708634	60708634	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:60708634C>T	uc001nqn.2	-	4	1470	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A	SLC15A3_uc001nqo.2_Intron	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	412					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						ACATCCCCAGCGCCATCTTCT	0.572000														15			5		0	0	0.001168	0	0
DNAH8	1769	broad.mit.edu	37	6	38851680	38851680	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:38851680G>A	uc021yzh.1	+	55	8274	c.8165G>A	c.(8164-8166)cGa>cAa	p.R2722Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R2505Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTGGATAAGCGAATTGGAAGC	0.363000														60			39		0	0	0.006230	0	0
CDH16	1014	broad.mit.edu	37	16	66946011	66946011	+	Silent	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:66946011C>T	uc002eql.3	-	12	1775	c.1581G>A	c.(1579-1581)gaG>gaA	p.E527E	CDH16_uc010cdy.3_Silent_p.E527E|CDH16_uc021tjx.1_Silent_p.E527E|CDH16_uc002eqm.3_Silent_p.E430E	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	527	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCACCACCACCTCATGACTTG	0.627000														55			6		0	0	0.001984	0	0
SPAM1	6677	broad.mit.edu	37	7	123594436	123594436	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:123594436C>T	uc003vle.3	+	2	1251	c.812C>T	c.(811-813)cCt>cTt	p.P271L	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.P271L|SPAM1_uc022aks.1_Missense_Mutation_p.P271L|SPAM1_uc003vlf.4_Missense_Mutation_p.P271L|SPAM1_uc010lku.3_Missense_Mutation_p.P271L	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	271					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CAGCAGTCTCCTGTAGCTGCT	0.418000														79			42		0	0	0.002522	0	0
MUC17	140453	broad.mit.edu	37	7	100685825	100685825	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:100685825G>A	uc003uxp.1	+	2	11181	c.11128G>A	c.(11128-11130)Gag>Aag	p.E3710K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3710	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCAGCTCTGAGGGTAGCAC	0.507000														137			59		0	0	0.003610	0	0
KNDC1	85442	broad.mit.edu	37	10	135025336	135025336	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:135025336C>T	uc001llz.1	+	22	4211	c.4210C>T	c.(4210-4212)Ctc>Ttc	p.L1404F		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1404					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGTAAGAGGCTCTCAGAGGA	0.652000														34			7		0	0	0.001984	0	0
GRAP2	9402	broad.mit.edu	37	22	40364204	40364204	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:40364204A>C	uc003ayh.2	+	5	881	c.618A>C	c.(616-618)caA>caC	p.Q206H	GRAP2_uc011aom.2_Missense_Mutation_p.Q180H|GRAP2_uc011aon.2_Missense_Mutation_p.Q140H|GRAP2_uc010gya.2_Missense_Mutation_p.Q206H|GRAP2_uc011aoo.2_Missense_Mutation_p.Q134H|GRAP2_uc011aop.2_Missense_Mutation_p.Q166H|GRAP2_uc011aoq.2_Missense_Mutation_p.Q93H|GRAP2_uc003ayj.2_Missense_Mutation_p.Q206H	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	206					Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity	p.P205L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						agcctccgcaatatgccccag	0.617000														7			5		0	0	0.000602	0	0
SAMD12	401474	broad.mit.edu	37	8	119593128	119593128	+	Silent	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:119593128G>A	uc003yom.2	-	1	147	c.18C>T	c.(16-18)ctC>ctT	p.L6L	SAMD12_uc010mda.1_Silent_p.L6L|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	6										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			AACCACAGTGGAGAGCTAGGA	0.393000														26			8		0	0	0.004482	0	0
UCHL1	7345	broad.mit.edu	37	4	41262768	41262768	+	Silent	SNP	C	T	T	rs121917767		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:41262768C>T	uc003gvo.3	+	3	375	c.279C>T	c.(277-279)atC>atT	p.I93I	UCHL1_uc003gvp.3_Silent_p.I12I	NM_004181	NP_004172	P09936	UCHL1_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.	93			I -> M (in PARK5; impaired enzymatic hydrolase activity; has about a 50% reduction in catalytic activity compared to wild-type protein).		cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GTGGCACAATCGGACTTATTC	0.443000														108			40		0	0	0.002222	0	0
ASXL3	80816	broad.mit.edu	37	18	31324855	31324855	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:31324855G>A	uc010dmg.1	+	11	5098	c.5043G>A	c.(5041-5043)atG>atA	p.M1681I	ASXL3_uc002kxq.2_Missense_Mutation_p.M1388I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1681					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCTTTAGAATGGACACTGAAG	0.483000														81			11		0	0	0.000978	0	0
SYCP1	6847	broad.mit.edu	37	1	115527450	115527450	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:115527450T>G	uc001efr.3	+	29	2873	c.2664T>G	c.(2662-2664)ttT>ttG	p.F888L	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.F888L|SYCP1_uc009wgw.3_Missense_Mutation_p.F863L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	888					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTTGAATTTGATATTAATT	0.244000														82			26		0	0	0.007291	0	0
PCSK5	5125	broad.mit.edu	37	9	78848417	78848417	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:78848417G>A	uc004akc.2	+	21	3309	c.2771G>A	c.(2770-2772)tGg>tAg	p.W924*		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	625					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCCCCTCATGGAAATTTGAA	0.502000														25			22		0	0	0.002299	0	0
abParts	0	broad.mit.edu	37	14	107183413	107183413	+	RNA	SNP	C	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:107183413C>A	uc021ser.1	-	32		c.2119G>T								Parts of antibodies, mostly variable regions.																		CACAGTAATACACGGCCGTGT	0.562000														193			10		3.07112e-06	4.30025e-06	0.000978	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140237633	140237633	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140237633C>T	uc003lhx.2	+	0	2000	c.2000C>T	c.(1999-2001)tCg>tTg	p.S667L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.S667L	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	679	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTTGTGTCGCTTGTGGAG	0.667000														22			7		0	0	0.001984	0	0
SMURF2	64750	broad.mit.edu	37	17	62594596	62594596	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:62594596G>A	uc002jep.1	-	2	492	c.104C>T	c.(103-105)cCa>cTa	p.P35L	SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	35	C2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CTTAGCAAATGGATCAGGAAG	0.343000														66			14		0	0	0.002450	0	0
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	CTC	CTC	rs67569765	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:72413723_72413724insCTC	uc003twk.2	+	10	3191_3192	c.3191_3192insCTC	c.(3190-3192)ttc>ttCTCc	p.1064_1065insS	POM121_uc003twj.3_In_Frame_Ins_p.799_800insS|POM121_uc010lam.1_In_Frame_Ins_p.799_800insS	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1064	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663													---	79	---	---	9	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	-	-			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	uc001jcx.4	-	0	234_254	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_uc021pps.1_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc010qfl.2_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc001jcy.4_5'UTR	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA.	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(2)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													---	5	---	---	4	---					
MLL	4297	broad.mit.edu	37	11	118344862	118344877	+	Frame_Shift_Del	DEL	TAGCACTGTTAAACAT	-	-			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:118344862_118344877delTAGCACTGTTAAACAT	uc001pta.3	+	2	3011_3026	c.2988_3003delTAGCACTGTTAAACAT	c.(2986-3003)tctagcactgttaaacatfs	p.S996fs	MLL_uc001ptb.3_Frame_Shift_Del_p.S996fs|MLL_uc001psz.1_Frame_Shift_Del_p.S1029fs|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	996					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTCCTTCATCTAGCACTGTTAAACATTCCACTTCCT	0.505			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""								---	89	---	---	15	---					
KDM2B	84678	broad.mit.edu	37	12	121986849	121986850	+	Frame_Shift_Ins	INS	-	CTGGA	CTGGA			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:121986849_121986850insCTGGA	uc001uat.3	-	5	719_720	c.615_616insTCCAG	c.(613-618)cagcatfs	p.Q205fs	KDM2B_uc001uas.3_Frame_Shift_Ins_p.Q174fs|KDM2B_uc021rfd.1_Frame_Shift_Ins_p.Q174fs|KDM2B_uc001uau.3_Frame_Shift_Ins_p.Q88fs|KDM2B_uc021rfe.1_Frame_Shift_Ins_p.Q205fs|KDM2B_uc001uav.4_Frame_Shift_Ins_p.Q205fs	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	205	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.Q205Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCCTTCAGATGCTGGGGCCACA	0.550													---	108	---	---	12	---					
ZFX	7543	broad.mit.edu	37	X	24225549	24225550	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:24225549_24225550insA	uc011mjv.2	+	5	1119_1120	c.870_871insA	c.(868-873)atcaagfs	p.I290fs	ZFX_uc004dbd.2_Frame_Shift_Ins_p.I251fs|ZFX_uc004dbf.3_Frame_Shift_Ins_p.I251fs|ZFX_uc004dbe.3_Frame_Shift_Ins_p.I251fs|ZFX_uc022bua.1_Frame_Shift_Ins_p.I251fs|ZFX_uc010nfx.2_Frame_Shift_Ins_p.I22fs|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.3_5'Flank	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTGAGGTCATCAAGGTGTACAT	0.416													---	34	---	---	55	---					
