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
BRCA1	672	broad.mit.edu	37	17	41244256	41244256	+	Missense_Mutation	SNP	G	T	T	rs80357992		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:41244256G>T	uc002icq.3	-	9	3524	c.3292C>A	c.(3292-3294)Ctt>Att	p.L1098I	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.L1027I|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.L1051I|BRCA1_uc002ict.3_Missense_Mutation_p.L1098I|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.L1098I|BRCA1_uc002ide.1_Missense_Mutation_p.L929I|BRCA1_uc010cyy.1_Missense_Mutation_p.L1098I|BRCA1_uc010whs.1_Missense_Mutation_p.L1098I|BRCA1_uc010cyz.2_Missense_Mutation_p.L1051I|BRCA1_uc010cza.2_Missense_Mutation_p.L1072I|BRCA1_uc010wht.1_Missense_Mutation_p.L802I	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1098					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTCCAGGAAGACTTTGTTTA	0.353000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				90			7		5.18039e-06	5.30674e-06	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169108786	169108786	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:169108786G>A	uc003maf.3	+	6	589	c.509G>A	c.(508-510)gGa>gAa	p.G170E	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	170					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.G170R(3)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGAAGACGGAAATATCTTG	0.413000														98			26		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11597302	11597302	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:11597302G>A	uc002gne.3	+	20	4800	c.4732G>A	c.(4732-4734)Gat>Aat	p.D1578N	DNAH9_uc010coo.3_Missense_Mutation_p.D872N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1578	Stem (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)		AAAGCTGGAGGATATTCAGGG	0.478000														58			33		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11078616	11078616	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:11078616G>A	uc010hdq.3	+	15	2175	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	588					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P587P(1)		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)	AGCAGCCCCAGGCGGGCAGCT	0.647000														62			24		0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69098179	69098179	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:69098179G>A	uc002sez.1	-	0	471	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	104					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AACTCCTAATGATGTTGGCAG	0.408000														111			23		0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6021900	6021900	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:6021900G>A	uc002wmo.2	-	4	2215	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	664	Fibronectin type-III.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCAGCCCGAAGACCGTGGCTG	0.731000														27			10		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44121498	44121498	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr6:44121498C>T	uc003owr.3	+	20	2092	c.2028C>T	c.(2026-2028)atC>atT	p.I676I	TMEM63B_uc003ows.3_Silent_p.I579I|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	676						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ACAAGAAGATCCACTCGGGGG	0.587000														45			32		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148882025	148882025	+	RNA	SNP	C	T	T	rs150449871	by1000genomes	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:148882025C>T	uc009wkv.1	+	2		c.246C>T								Homo sapiens cDNA, FLJ17483.																		TGTTTTCTAGCAGTGACAAAT	0.343000														34			3		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12638117	12638117	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:12638117G>A	uc002mty.3	-	3	1015	c.805C>T	c.(805-807)Cga>Tga	p.R269*	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TCATGTATTCGAAATAAACTG	0.388000														57			16		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164764748	164764748	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:164764748T>C	uc003fei.3	-	15	1831	c.1768A>G	c.(1768-1770)Aca>Gca	p.T590A		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	590	Isomaltase.				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)	CCAGCAAATGTTGAGCGGGTA	0.343000										HNSCC(35;0.089)				47			13		0	0	1	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814133	75814133	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr13:75814133G>A	uc010ths.2	-	0	385	c.344C>T	c.(343-345)gCc>gTc	p.A115V						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CTCAAAGCTGGCATCCTCTAA	0.398000														134			4		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977848	70977848	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:70977848G>A	uc002ezr.3	-	41	6684	c.6533C>T	c.(6532-6534)tCc>tTc	p.S2178F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2179										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)				AGGGCTGgaggaaatctgttg	0.567000														10			4		0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135537689	135537689	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:135537689T>C	uc004cbq.1	-	2	834	c.682A>G	c.(682-684)Act>Gct	p.T228A	DDX31_uc010mzu.1_Missense_Mutation_p.T228A|DDX31_uc004cbr.1_Missense_Mutation_p.T228A|DDX31_uc004cbs.2_Missense_Mutation_p.T228A	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	228						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GCAGCTGAAGTAAACACTTTT	0.418000														30			12		0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35862350	35862350	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:35862350C>T	uc021usn.1	+	0	94	c.89C>T	c.(88-90)cCc>cTc	p.P30L		NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	30						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.L29L(2)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTGGGGCTCCCCCTCAACCTG	0.647000														71			19		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790153	248790153	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:248790153C>T	uc001ier.1	-	0	277	c.277G>A	c.(277-279)Gcc>Acc	p.A93T		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V92G(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			ATGCCACAGGCCACAAAGGAA	0.502000														36			6		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898676	130898676	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:130898676G>A	uc001uil.2	-	13	2862	c.2646C>T	c.(2644-2646)atC>atT	p.I882I		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	882	SH3 2.					cell junction|synapse		p.Q881K(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCACCTTGATGATCTGGCCTT	0.597000														71			28		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247586553	247586553	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:247586553C>T	uc001icr.3	+	3	443	c.305C>T	c.(304-306)tCg>tTg	p.S102L	NLRP3_uc001ics.3_Missense_Mutation_p.S102L|NLRP3_uc001icu.3_Missense_Mutation_p.S102L|NLRP3_uc001icw.3_Missense_Mutation_p.S102L|NLRP3_uc001icv.3_Missense_Mutation_p.S102L|NLRP3_uc010pyw.2_Missense_Mutation_p.S100L|NLRP3_uc001ict.1_Missense_Mutation_p.S100L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	102					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	p.S102L(2)|p.S102S(1)		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)			GCACGTGTTTCGAATCCCACT	0.403000														99			10		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25967044	25967044	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:25967044T>C	uc010ayu.3	-	6	1229	c.1123A>G	c.(1123-1125)Att>Gtt	p.I375V		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	375					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TATAAGGAAATTGGGATCAAA	0.413000														47			19		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31864597	31864597	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:31864597G>A	uc003tcm.2	-	12	1751	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	PDE1C_uc003tcn.1_Silent_p.F430F|PDE1C_uc003tco.2_Silent_p.F490F|PDE1C_uc003tcr.3_Silent_p.F430F|PDE1C_uc003tcs.3_Silent_p.F430F	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	430	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)			TGAAATCAATGAAACCTGAAG	0.438000														53			70		0	0	1	0	0
BOLL	66037	broad.mit.edu	37	2	198643759	198643759	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:198643759G>A	uc002uuu.1	-	2	558	c.179C>T	c.(178-180)tCc>tTc	p.S60F	BOLL_uc002uur.2_Missense_Mutation_p.S60F|BOLL_uc002uus.2_Missense_Mutation_p.S54F|BOLL_uc002uut.2_Missense_Mutation_p.S66F|BOLL_uc010zha.1_5'UTR	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	54	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	RNA binding|nucleotide binding|protein binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CCCATACTGGGAAAAAAATTT	0.318000														29			11		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755422	141755422	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:141755422C>T	uc003vwy.3	+	27	3433	c.3379C>T	c.(3379-3381)Ccc>Tcc	p.P1127S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1127	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1127S(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACCCGCCTTCCCTCCAAGTA	0.512000														70			89		0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95590883	95590883	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:95590883C>G	uc001ydw.2	-	8	1238	c.1026G>C	c.(1024-1026)agG>agC	p.R342S	DICER1_uc021sbc.1_Missense_Mutation_p.R342S|DICER1_uc001ydv.2_Missense_Mutation_p.R332S|DICER1_uc001ydx.2_Missense_Mutation_p.R342S	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	342	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of 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			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)		ATAAAAATTTCCTGTGCAGCT	0.403000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					36			29		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488436	108488436	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:108488436C>T	uc010ywk.2	+	19	4058	c.3976C>T	c.(3976-3978)Caa>Taa	p.Q1326*	RGPD4_uc002tdu.3_Nonsense_Mutation_p.Q513*|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1326					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGATGTTACTCAAGAAGAAGA	0.388000														143			36		0	0	1	0	0
M6PR	4074	broad.mit.edu	37	12	9096120	9096120	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:9096120G>A	uc001qvf.3	-	4	740	c.465C>T	c.(463-465)aaC>aaT	p.N155N	M6PR_uc021quk.1_Intron	NM_002355	NP_002346	P20645	MPRD_HUMAN	Homo sapiens mannose-6-phosphate receptor (cation dependent) (M6PR), transcript variant 1, mRNA.	155					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		CAGACACAGGGTTAAAATTGT	0.448000														41			14		0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47269689	47269689	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:47269689C>T	uc004dhr.1	+	1	156	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	29	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CCGTGTCATTCGAGGATGTGG	0.498000														129			30		0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132238134	132238134	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:132238134G>A	uc003kyd.3	-	7	1541	c.1133_splice	c.e7+1	p.S378_splice	AFF4_uc011cxk.2_Splice_Site_p.S56_splice|AFF4_uc003kye.1_Splice_Site_p.S378_splice	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	378	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAACTTACGATTTAGACTG	0.299000														26			9		0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125830840	125830840	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:125830840G>A	uc009zbw.3	-	19	3989	c.3861C>T	c.(3859-3861)acC>acT	p.T1287T	CDON_uc001qdb.4_Silent_p.T641T|CDON_uc001qdc.4_Silent_p.T1264T	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	1287					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CATGTCCTCAGGTTTCCCGGG	0.542000														96			10		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22434289	22434289	+	Silent	SNP	C	T	T	rs34835133	by1000genomes	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:22434289C>T	uc021rpm.1	+	1	380	c.342C>T	c.(340-342)agC>agT	p.S114S	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		GTGCAATGAGCGCACAGTGCT	0.498000														120			4		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32404489	32404489	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:32404489G>A	uc004dda.1	-	32	4856	c.4612C>T	c.(4612-4614)Ccc>Tcc	p.P1538S	DMD_uc004dcw.2_Missense_Mutation_p.P194S|DMD_uc004dcx.2_Missense_Mutation_p.P197S|DMD_uc004dcz.2_Missense_Mutation_p.P1415S|DMD_uc004dcy.1_Missense_Mutation_p.P1534S|DMD_uc004ddb.1_Missense_Mutation_p.P1530S|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1538	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTTCTTTGGGATTTTCCGTC	0.393000														151			23		0	0	1	0	0
CCDC144C	348254	broad.mit.edu	37	17	20224794	20224794	+	RNA	SNP	A	G	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:20224794A>G	uc010cqy.1	+	0		c.308A>G								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						GCTGGTGGAAAAACAGCGTCG	0.637000														139			9		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877801	150877801	+	Silent	SNP	C	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:150877801C>A	uc003eyp.3	+	6	1149	c.1020C>A	c.(1018-1020)ggC>ggA	p.G340G	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Silent_p.G340G|MED12L_uc003eyo.3_Silent_p.G340G	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	340					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGGCCCTGGCATGAGCCCCG	0.587000														158			28		1.16021e-09	1.20153e-09	1	1	0
PAK4	10298	broad.mit.edu	37	19	39667306	39667306	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:39667306C>T	uc002okj.1	+	8	1897	c.1436C>T	c.(1435-1437)cCc>cTc	p.P479L	PAK4_uc002okl.1_Missense_Mutation_p.P479L|PAK4_uc002okn.1_Missense_Mutation_p.P479L|PAK4_uc002okm.1_Missense_Mutation_p.P326L|PAK4_uc002oko.1_Missense_Mutation_p.P326L|PAK4_uc002okp.1_Missense_Mutation_p.P389L	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	479	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GTCGGCACGCCCTACTGGATG	0.662000														162			42		0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775087	231775087	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:231775087C>T	uc021vxz.1	-	0	591	c.591G>A	c.(589-591)atG>atA	p.M197I	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Missense_Mutation_p.M197I|GPR55_uc010fxs.1_Missense_Mutation_p.M197I	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	197					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGCAGAAGCCCATGATGCCCA	0.567000														65			28		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211512710	211512710	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:211512710C>T	uc010fur.3	+	26	3365	c.3283C>T	c.(3283-3285)Cgc>Tgc	p.R1095C	CPS1_uc002vee.4_Missense_Mutation_p.R1089C|CPS1_uc010fus.3_Missense_Mutation_p.R638C	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1089	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.V1095I(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGCTGAGGATCGCTCCATCTT	0.488000														75			21		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340543	121340543	+	Silent	SNP	C	T	T	rs143763862	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:121340543C>T	uc003eeg.2	+	2	477	c.267C>T	c.(265-267)ccC>ccT	p.P89P		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	89					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGGTGTGCCCCGCCAGCGTGG	0.577000														63			14		0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80963040	80963040	+	Missense_Mutation	SNP	C	T	T	rs142855993	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:80963040C>T	uc002kgg.1	-	5	469	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	B3GNTL1_uc002kgf.1_Missense_Mutation_p.R41Q|B3GNTL1_uc002kge.1_Non-coding_Transcript	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	152							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ACGTGTGTATCGTTCGGTGGA	0.572000														48			32		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308494	248308494	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:248308494G>A	uc010pze.2	+	0	45	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L15L(2)|p.L14P(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCATCCTCCTGGGAATCTTCA	0.443000														209			31		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8449747	8449747	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:8449747C>T	uc003zkk.3	-	33	4709	c.3966G>A	c.(3964-3966)agG>agA	p.R1322R	PTPRD_uc003zkp.3_Silent_p.R916R|PTPRD_uc003zkq.3_Silent_p.R915R|PTPRD_uc003zkr.3_Silent_p.R906R|PTPRD_uc003zks.3_Silent_p.R901R|PTPRD_uc022bdj.1_Silent_p.R912R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1322					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTTAAGGCGCCTCAGTTCTA	0.463000										TSP Lung(15;0.13)				77			24		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166974497	166974497	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:166974497C>T	uc001gdy.1	+	7	779	c.708C>T	c.(706-708)atC>atT	p.I236I	MAEL_uc021peh.1_Silent_p.I180I|MAEL_uc001gdz.1_Silent_p.I205I|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	236					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TGGAAGAAATCAGGCAAGATC	0.363000														18			9		0	0	1	0	0
SOX8	30812	broad.mit.edu	37	16	1035010	1035010	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:1035010C>G	uc002ckn.3	+	2	1080	c.965C>G	c.(964-966)cCg>cGg	p.P322R		NM_014587	NP_055402	P57073	SOX8_HUMAN	Homo sapiens SRY (sex determining region Y)-box 8 (SOX8), mRNA.	322					Sertoli cell development|adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				AAGAGTGCCCCGTCGGCCTCC	0.776000														15			5		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23018313	23018313	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:23018313C>T	uc004daj.3	+	0	236	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	47						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						AGCAGGCTCCCGTGAACCACC	0.507000														61			33		0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101876615	101876615	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:101876615C>T	uc001tid.3	+	4	415	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	SPIC_uc010svp.2_Silent_p.L86L|SPIC_uc009zua.3_5'UTR|SPIC_uc021rcq.1_5'UTR	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						TCATCAATCTCTGCAGAACAT	0.403000														115			34		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202305	248202305	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:248202305G>T	uc001idw.3	+	0	832	c.736G>T	c.(736-738)Gta>Tta	p.V246L	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCACCTCACTGTAGTGTCCTT	0.493000														98			18		2.48551e-13	2.60255e-13	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58187825	58187825	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:58187825G>A	uc002qpu.3	+	2	1009	c.312G>A	c.(310-312)gtG>gtA	p.V104V		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	104	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCCAGTGTGAAAGAGAAAT	0.428000														75			16		0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133531	89133531	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:89133531G>A	uc001pct.3	-	9	1102	c.863C>T	c.(862-864)tCt>tTt	p.S288F	NOX4_uc009yvr.3_Missense_Mutation_p.S263F|NOX4_uc001pcu.3_Missense_Mutation_p.S214F|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.S288F|NOX4_uc009yvo.3_Intron|NOX4_uc010rtu.2_Missense_Mutation_p.S122F|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Missense_Mutation_p.S264F|NOX4_uc009yvq.3_Missense_Mutation_p.S264F	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	288	Ferric oxidoreductase.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CAAAGGTCCAGAAATCCAAAG	0.398000														31			11		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3508582	3508582	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr18:3508582A>C	uc002kmf.3	-	10	3084	c.2557T>G	c.(2557-2559)Tgt>Ggt	p.C853G	DLGAP1_uc010wyz.2_Missense_Mutation_p.C853G|DLGAP1_uc010dkn.3_Missense_Mutation_p.C561G|DLGAP1_uc002kme.2_Missense_Mutation_p.C551G|DLGAP1_uc010wyw.2_Missense_Mutation_p.C559G|DLGAP1_uc010wyx.2_Missense_Mutation_p.C575G|DLGAP1_uc010wyy.2_Missense_Mutation_p.C537G|DLGAP1_uc002kmg.3_Missense_Mutation_p.C551G	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	853					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TTTTCTTCACACAGTTCTCTG	0.458000														22			4		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	23081590	23081590	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:23081590G>A	uc021wml.1	+	237		c.11583_splice	c.e237-1		abParts_uc021wmm.1_Intron					Parts of antibodies, mostly variable regions.																		TCCAAGTCAGGAACACAGCCA	0.537000														46			12		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81528669	81528669	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:81528669G>A	uc001szl.1	+	2	622	c.531G>A	c.(529-531)atG>atA	p.M177I	ACSS3_uc001szm.1_Missense_Mutation_p.M176I	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	177						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ACATGCCTATGATCCCACAGG	0.458000														38			11		0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125562832	125562832	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:125562832C>T	uc011lze.2	+	0	431	c.431C>T	c.(430-432)gCc>gTc	p.A144V		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ATGTGCGCAGCCCTGGTGGGA	0.622000														53			4		0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13232795	13232795	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:13232795C>T	uc001rbi.3	+	11	1738	c.1715C>T	c.(1714-1716)cCa>cTa	p.P572L	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	572						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GAAGGCCATCCAGCAGCCCTG	0.537000														45			7		0	0	1	0	0
C20orf152	140894	broad.mit.edu	37	20	34575343	34575343	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:34575343C>T	uc002xer.1	+	6	899	c.743C>T	c.(742-744)tCt>tTt	p.S248F	C20orf152_uc002xes.1_Missense_Mutation_p.S248F|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	248										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					GCATCATGGTCTGATGAGAAG	0.498000														41			14		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120760567	120760567	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:120760567A>T	uc003eec.4	+	3	448	c.308A>T	c.(307-309)gAt>gTt	p.D103V	STXBP5L_uc011bji.2_Missense_Mutation_p.D103V	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	103					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCTGGTGTTGATTGCTATTGC	0.348000														46			4		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30961109	30961109	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:30961109G>A	uc021vfn.1	-	15	1677	c.1645C>T	c.(1645-1647)Ctg>Ttg	p.L549L	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.L545L	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	549	EF-hand 1.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ACTTCCATCAGAGCCACCAAG	0.557000														32			12		0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3155369	3155369	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:3155369C>T	uc001igp.3	+	11	1289	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*	PFKP_uc001igq.3_Nonsense_Mutation_p.Q397*|PFKP_uc009xhr.3_Nonsense_Mutation_p.Q367*|PFKP_uc009xhs.1_Nonsense_Mutation_p.Q189*|PFKP_uc009xht.3_Nonsense_Mutation_p.Q143*|PFKP_uc009xhu.3_5'Flank	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	405					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCCGGATGATCAGATCCCAAA	0.597000														13			3		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508601	37508601	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:37508601C>T	uc021ppc.1	+	33	3892	c.3793C>T	c.(3793-3795)Cag>Tag	p.Q1265*	ANKRD30A_uc001iza.1_Nonsense_Mutation_p.Q1265*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1321						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						GTCTCTAGATCAGAAATTATT	0.353000														24			8		0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269602	30269602	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:30269602C>A	uc022buh.1	+	0	992	c.992C>A	c.(991-993)aCt>aAt	p.T331N	MAGEB1_uc004dcc.3_Missense_Mutation_p.T331N|MAGEB1_uc004dcd.3_Missense_Mutation_p.T331N|MAGEB1_uc004dce.3_Missense_Mutation_p.T331N	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	331										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACTGCCACGACTTTTAGAGCG	0.522000														116			12		1.36491e-13	1.43316e-13	1	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209142372	209142372	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:209142372C>T	uc002vcz.3	+	4	711	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Nonsense_Mutation_p.Q185*|PIKFYVE_uc002vcw.3_Nonsense_Mutation_p.Q185*|PIKFYVE_uc002vcv.3_Intron|PIKFYVE_uc002vcx.3_Intron	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	185					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACTATGTGGGCAGATTTTCTG	0.393000														84			29		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045429	42045429	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:42045429G>A	uc001cgz.4	-	3	6253	c.5040C>T	c.(5038-5040)tcC>tcT	p.S1680S	HIVEP3_uc001cha.4_Silent_p.S1680S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1680					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGCTTGCGGGAGCTGGATG	0.512000														42			22		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56477635	56477635	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:56477635G>A	uc002qmh.3	+	4	2341	c.2270G>A	c.(2269-2271)gGg>gAg	p.G757E	NLRP8_uc010etg.3_Missense_Mutation_p.G757E	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	757						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTTTTGACGGGGAACCAGCAT	0.527000														72			22		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19136660	19136660	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:19136660G>A	uc002nkz.1	-	2	559	c.539C>T	c.(538-540)cCc>cTc	p.P180L	SUGP2_uc002nkx.2_Missense_Mutation_p.P166L|SUGP2_uc002nla.1_Missense_Mutation_p.P166L|SUGP2_uc002nlb.2_Missense_Mutation_p.P166L|SUGP2_uc010xqk.1_Intron	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	166					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AACTGCAGAGGGACCAAAACT	0.502000														70			14		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158449913	158449913	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:158449913C>T	uc010pik.2	+	0	246	c.246C>T	c.(244-246)ttC>ttT	p.F82F	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F82F(2)|p.F81F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGTACTTCTTCCTTGGCATTC	0.413000														116			18		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252721	124252721	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:124252721G>A	uc010sai.2	-	0	519	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATGGTTGATGATATTAGCAC	0.488000														19			13		0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162929987	162929987	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:162929987T>C	uc002ubz.3	-	1	577	c.16A>G	c.(16-18)Aag>Gag	p.K6E	DPP4_uc010fpb.3_5'UTR|DPP4_uc002uca.1_Non-coding_Transcript|DPP4_uc002ucb.1_Non-coding_Transcript	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	6				K -> R (in Ref. 2; AAA52308).	T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	AGAAGAACCTTCCACGGTGTC	0.552000														46			15		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141006946	141006946	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:141006946C>T	uc004cog.3	+	38	5664	c.5519C>T	c.(5518-5520)cCa>cTa	p.P1840L	CACNA1B_uc022bqn.1_Missense_Mutation_p.P1840L|CACNA1B_uc004coi.3_Missense_Mutation_p.P1054L|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Missense_Mutation_p.P122L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1842					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTGCTGGTACCACCCCATAAG	0.582000														48			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140389333	140389333	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:140389333C>T	uc003lii.3	+	3	3440	c.2835C>T	c.(2833-2835)ttC>ttT	p.F945F	PCDHAC2_uc003lha.2_Silent_p.F624F|PCDHAC2_uc003lhb.2_Silent_p.F888F|PCDHAC2_uc003lhd.2_Silent_p.F886F|PCDHAC2_uc003lhf.2_Silent_p.F888F|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Silent_p.F885F|PCDHAC2_uc003lhl.2_Silent_p.F874F|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Silent_p.F888F|PCDHAC2_uc003lhn.2_Silent_p.F624F|PCDHAC2_uc003lhq.2_Silent_p.F875F|PCDHAC2_uc003lhs.2_Silent_p.F888F|PCDHAC2_uc003lhu.2_Silent_p.F888F|PCDHAC2_uc003lhw.2_Silent_p.F623F|PCDHAC2_uc003lhx.2_Silent_p.F886F|PCDHAC2_uc003lia.2_Silent_p.F887F|PCDHAC2_uc003lic.2_Silent_p.F879F|PCDHAC2_uc003lif.2_Silent_p.F888F|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Silent_p.F901F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	945	4 X 4 AA repeats of P-X-X-P.				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)			CCGACAAATTCATTATCCCAG	0.517000														67			27		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44828153	44828153	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:44828153G>A	uc002xrm.2	-	6	1731	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	CDH22_uc010ghk.1_Silent_p.I444I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	444	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGTCCGCATCGATATCGAAGA	0.632000														20			11		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115348828	115348828	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:115348828T>C	uc001lal.3	-	41	5266	c.5102A>G	c.(5101-5103)gAa>gGa	p.E1701G	HABP2_uc021pyr.1_3'UTR|HABP2_uc001lai.4_3'UTR|NRAP_uc009xyb.3_Missense_Mutation_p.E453G|NRAP_uc001laj.3_Missense_Mutation_p.E1700G|NRAP_uc001lak.3_Missense_Mutation_p.E1665G	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1700						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTCCACTGCTTCTGCCCCCCG	0.562000														42			22		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997273	146997273	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:146997273C>T	uc003weu.2	+	8	1905	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	463	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGTTCGCTTCCTAGCCAAGG	0.408000										HNSCC(39;0.1)				112			25		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072544	75072544	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:75072544C>T	uc001dgg.3	-	9	1449	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.P204P	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	410								p.P410P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTAGATTTCGGCAAAGACG	0.413000														90			13		0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077821	79077822	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:79077821_79077822CC>TT	uc002jzg.2	+	8	1087_1088	c.979_980CC>TT	c.(979-981)ccg>TTg	p.P327L	BAIAP2_uc002jyz.4_Missense_Mutation_p.P327L|BAIAP2_uc002jza.2_Missense_Mutation_p.P327L|BAIAP2_uc002jzc.2_Missense_Mutation_p.P327L|BAIAP2_uc002jzb.2_Missense_Mutation_p.P84L|BAIAP2_uc010wuh.1_Missense_Mutation_p.P249L|BAIAP2_uc002jzd.2_Missense_Mutation_p.P327L|BAIAP2_uc002jzf.2_Missense_Mutation_p.P327L|BAIAP2_uc002jze.2_Missense_Mutation_p.P360L|BAIAP2_uc002jzh.2_Missense_Mutation_p.P328L|BAIAP2_uc010wui.2_Missense_Mutation_p.P190L	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	327					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTGTCTCCTCCGCAGTCTCAG	0.619000														63			45		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					45			49		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20278860	20278860	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:20278860G>A	uc002wru.3	+	24	3366	c.3252G>A	c.(3250-3252)ggG>ggA	p.G1084G	C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1084								p.G1084R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGAAAAATGGGACTTACTTCC	0.438000														49			23		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109813882	109813882	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:109813882C>T	uc001dxa.4	+	25	7701	c.7640C>T	c.(7639-7641)gCt>gTt	p.A2547V		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2547					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCTCCTGTGCTGCCCAGCGG	0.637000														130			9		0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40675	40675	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrGL000218.1:40675G>A	uc011mfn.2	-	2	344	c.255C>T	c.(253-255)gaC>gaT	p.D85D	LOC100233156_uc003jah.2_Silent_p.D85D					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TGTGCCGCACGTCCTCCAGTT	0.662000														11			3		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108013893	108013893	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:108013893C>T	uc001tmk.1	+	10	3104	c.2583C>T	c.(2581-2583)ctC>ctT	p.L861L	BTBD11_uc009zut.1_Silent_p.L742L|BTBD11_uc001tmj.3_Silent_p.L861L|BTBD11_uc001tml.1_Silent_p.L398L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	861						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGGAGGAGCTCGTTACCCAAG	0.532000														75			8		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863064	154863064	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:154863064G>A	uc003wlu.1	+	0	519	c.455G>A	c.(454-456)cGc>cAc	p.R152H	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	152						integral to plasma membrane	serotonin receptor activity	p.R152C(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TACACGCTCCGCACCCGCAAG	0.627000														78			16		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85487807	85487807	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:85487807C>T	uc002blg.3	+	16	1876	c.1674C>T	c.(1672-1674)gtC>gtT	p.V558V	SLC28A1_uc010bnb.3_Silent_p.V558V|SLC28A1_uc010upe.2_Silent_p.V392V|SLC28A1_uc010upf.1_Silent_p.V558V|SLC28A1_uc010upg.1_Intron	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	558					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTCCATGGTCCCCCAACGGA	0.642000														32			4		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156913742	156913742	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:156913742G>A	uc001fqo.3	-	30	4140	c.3100C>T	c.(3100-3102)Cgc>Tgc	p.R1034C	ARHGEF11_uc010phu.2_Missense_Mutation_p.R450C|ARHGEF11_uc001fqn.3_Missense_Mutation_p.R1074C	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	1034	PH.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCACAGAGCGGATGAGCACA	0.612000														49			9		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50052771	50052771	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:50052771G>A	uc004dox.4	+	5	1900	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K	CCNB3_uc004doy.3_Silent_p.K534K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	534					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGTCTTTAAAGAAAAAGTGTA	0.383000														31			12		0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122774171	122774171	+	Silent	SNP	G	A	A	rs140478463		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:122774171G>A	uc003ied.3	-	7	973	c.789C>T	c.(787-789)gaC>gaT	p.D263D	BBS7_uc003iee.2_Silent_p.D263D	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	263					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCACCATTCCGTCATCTCTCC	0.323000									Bardet-Biedl syndrome					32			3		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599709	29599709	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr13:29599709G>A	uc001usl.4	+	0	962	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	292						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.L301L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCATCGAAGGAAATCCCAAG	0.507000														19			5		0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51506485	51506485	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:51506485C>T	uc002pux.1	-	4	722	c.635G>A	c.(634-636)gGa>gAa	p.G212E	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.G183E|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'UTR|KLK8_uc002puv.1_Non-coding_Transcript	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	212	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TGCCAAGGTTCCATTGCAAAC	0.607000														55			20		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102008306	102008306	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:102008306G>A	uc001tii.3	+	1	198	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	MYBPC1_uc001tif.2_Missense_Mutation_p.E20K|MYBPC1_uc001tig.3_Missense_Mutation_p.E20K|MYBPC1_uc010svr.2_Missense_Mutation_p.E20K|MYBPC1_uc010svs.2_Missense_Mutation_p.E20K|MYBPC1_uc001tij.3_Missense_Mutation_p.E20K|MYBPC1_uc010svt.2_Intron|MYBPC1_uc010svu.2_Missense_Mutation_p.E20K|MYBPC1_uc001tik.3_Intron|MYBPC1_uc001tih.3_Missense_Mutation_p.E20K|MYBPC1_uc010svq.2_Intron	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	20					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCCACCCCCGGAAGGTGAGTA	0.507000														17			6		0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38567631	38567631	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:38567631C>T	uc002huq.3	-	8	1199	c.1040G>A	c.(1039-1041)gGt>gAt	p.G347D	TOP2A_uc002hur.1_5'UTR	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	347					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TGCAACACCACCCTTGTTCTT	0.368000														71			37		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91229847	91229847	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:91229847G>A	uc003hsv.4	+	1	752	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	FAM190A_uc003hsu.3_Missense_Mutation_p.E138K|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.E138K	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	138										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TTTTGAAAGGGAAAAAGAGCA	0.368000														25			3		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813451	24813451	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:24813451C>T	uc001iru.4	+	12	3059	c.2656C>T	c.(2656-2658)Cac>Tac	p.H886Y	KIAA1217_uc001irs.3_Missense_Mutation_p.H806Y|KIAA1217_uc001irt.4_Missense_Mutation_p.H851Y|KIAA1217_uc010qcy.2_Missense_Mutation_p.H851Y|KIAA1217_uc010qcz.2_Missense_Mutation_p.H851Y|KIAA1217_uc001irv.1_Missense_Mutation_p.H701Y|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.H569Y|KIAA1217_uc001irz.3_Missense_Mutation_p.H569Y|KIAA1217_uc001irx.3_Missense_Mutation_p.H569Y|KIAA1217_uc001iry.3_Missense_Mutation_p.H569Y	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	886					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						GATGGTTCGCCACGCGCAGAG	0.667000														32			14		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38869150	38869150	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:38869150G>A	uc003jln.2	+	1	406	c.4G>A	c.(4-6)Gct>Act	p.A2T	OSMR_uc003jlm.2_Missense_Mutation_p.A2T	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	2					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AGAACTGATGGCTCTATTTGC	0.343000														57			29		0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56923902	56923902	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:56923902C>T	uc002adu.3	-	21	2951	c.2734G>A	c.(2734-2736)Gag>Aag	p.E912K	BC037892_uc002ads.3_5'Flank|ZNF280D_uc002adv.3_Missense_Mutation_p.E899K|ZNF280D_uc010bfq.3_Missense_Mutation_p.E912K|ZNF280D_uc002adt.3_Missense_Mutation_p.E153K|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CTGCCTTGCTCGCTAACATCA	0.393000														76			5		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48925889	48925889	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:48925889G>A	uc002rwu.4	-	8	801	c.731C>T	c.(730-732)tCc>tTc	p.S244F	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	244					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.S244S(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCTCTGAATGGACTCTAGGCC	0.408000														37			6		0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922212	159922212	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:159922212G>A	uc001fus.3	-	2	621	c.504C>T	c.(502-504)agC>agT	p.S168S	SLAMF9_uc009wtd.3_Intron|SLAMF9_uc001fut.3_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	168	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGAGAGCCAGCTGTAGGTCA	0.577000														106			40		0	0	1	0	0
AWAT2	158835	broad.mit.edu	37	X	69263353	69263353	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:69263353G>A	uc004dxt.1	-	3	453	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.	149						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						ATTCTCTGAGGAAAGGCATCC	0.488000														40			6		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117068875	117068875	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:117068875C>T	uc011lxl.2	+	57	5014	c.5014C>T	c.(5014-5016)Ctc>Ttc	p.L1672F	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_5'Flank	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1672	Fibrillar collagen NC1.				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						CCTCAGCAACCTCATCCAGAG	0.552000											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			21		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820882	2820882	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr8:2820882C>T	uc022aqr.1	-	59	9706	c.9316G>A	c.(9316-9318)Gga>Aga	p.G3106R	CSMD1_uc011kwj.2_Missense_Mutation_p.G2436R|CSMD1_uc010lrg.3_Missense_Mutation_p.G998R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3107	Sushi 25.					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)		TCCACTGTTCCATTCTGCACC	0.557000														170			52		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140230102	140230102	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:140230102G>A	uc003lhu.2	+	0	2746	c.2022G>A	c.(2020-2022)caG>caA	p.Q674Q	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_uc003lht.1_Silent_p.Q674Q	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	687	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)			AGAGCGGCCAGGCGCCAAAGT	0.677000														80			21		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52356675	52356675	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:52356675G>A	uc011bef.2	+	1	478	c.217G>A	c.(217-219)Gac>Aac	p.D73N	DNAH1_uc003ddt.1_Missense_Mutation_p.D73N	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	73	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACACTCTCAGACTTGGGGCA	0.582000														32			13		0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38679227	38679227	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:38679227C>T	uc021rsi.1	+	0	633	c.633C>T	c.(631-633)ctC>ctT	p.L211L	SSTR1_uc001wul.1_Silent_p.L211L	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	211					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	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;0.00444)	Octreotide(DB00104)	GCAACATGCTCATGCCAGAGC	0.627000														39			12		0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94800569	94800569	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:94800569G>A	uc011ltv.1	-	12	1253	c.1215C>T	c.(1213-1215)cgC>cgT	p.R405R	SPTLC1_uc004arl.1_Silent_p.R405R			O15269	SPTC1_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), transcript variant 1, mRNA.	405						SPOTS complex|integral to membrane	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CATCTTGCTCGCGAGACCCAG	0.498000														147			5		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073403	134073403	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:134073403G>T	uc003iha.3	+	0	2934	c.2108G>T	c.(2107-2109)aGt>aTt	p.S703I	PCDH10_uc003igz.3_Missense_Mutation_p.S703I	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	703					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P702T(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAGCGCCCCAGTCGCTCTGGC	0.682000														55			10		1.76689e-08	1.81985e-08	1	1	0
FAM123B	139285	broad.mit.edu	37	X	63410656	63410656	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:63410656G>A	uc022byb.1	-	0	2511	c.2511C>T	c.(2509-2511)tcC>tcT	p.S837S	FAM123B_uc004dvo.3_Silent_p.S837S	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	837					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						AGGCTTCCAAGGAGGCTGCAA	0.522000														11			5		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621312	171621312	+	Missense_Mutation	SNP	C	T	T	rs114283307	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:171621312C>T	uc001ghu.3	-	0	462	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	MYOC_uc010pmk.2_Missense_Mutation_p.R89Q	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	147					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGACTTGTCTCGGAGGAGGTT	0.582000														159			7		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496161	41496161	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr21:41496161G>A	uc002yyq.1	-	19	4109	c.3657C>T	c.(3655-3657)atC>atT	p.I1219I	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.	1219	Fibronectin type-III 4.				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)				TGTACTTTCGGATGATGCCGT	0.572000														128			44		0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60581804	60581804	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:60581804G>A	uc002ybs.3	-	6	1985	c.1985C>T	c.(1984-1986)cCc>cTc	p.P662L		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	662	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCTCAAGGCGGGTAAGCTCCT	0.597000														56			41		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026422	61026422	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:61026422G>A	uc001nra.3	-	19	2872	c.2593C>T	c.(2593-2595)Cct>Tct	p.P865S	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	865	Pro-rich.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGTGGCTGAGGAGCCCCTGGG	0.667000														18			10		0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38884115	38884115	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:38884115C>A	uc003avy.4	-	11	1556	c.1453G>T	c.(1453-1455)Gaa>Taa	p.E485*	DDX17_uc003avw.4_5'UTR|DDX17_uc003avx.4_Nonsense_Mutation_p.E485*	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	406					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTGACATCTTCCACATCTTCC	0.488000														80			19		3.51602e-12	3.66131e-12	1	1	0
CSF2RA	1438	broad.mit.edu	37	X	1409343	1409343	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:1409343G>A	uc010nct.2	+	7	909	c.587G>A	c.(586-588)gGa>gAa	p.G196E	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.G196E|CSF2RA_uc004cpq.2_Missense_Mutation_p.G196E|CSF2RA_uc004cpn.2_Missense_Mutation_p.G196E|CSF2RA_uc004cpo.2_Missense_Mutation_p.G196E|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.G63E|CSF2RA_uc004cpp.2_Missense_Mutation_p.G196E|CSF2RA_uc010ncv.2_Missense_Mutation_p.G196E|CSF2RA_uc004cpr.2_Missense_Mutation_p.G196E	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	196			G -> R (in SMDP4).			extracellular region|integral to plasma membrane	cytokine receptor activity	p.G196*(2)		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)	CTGGTTAACGGAACCAGCCGA	0.398000														199			110		0	0	1	0	0
TCRAVN1	0	broad.mit.edu	37	14	22580965	22580965	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:22580965G>A	uc010ajh.1	+	1	384	c.308G>A	c.(307-309)gGa>gAa	p.G103E	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 25, partial cds, clone: SEB 340.																		ACAGATGTAGGAACCTACTTC	0.507000														9			3		0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10471643	10471643	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr18:10471643A>T	uc002kom.4	+	2	713	c.359A>T	c.(358-360)tAt>tTt	p.Y120F		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	120					Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		AATCCCACTTATACTCTCATC	0.542000														66			12		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117739654	117739654	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr6:117739654G>A	uc003pxp.1	-	1	338	c.139C>T	c.(139-141)Ctt>Ttt	p.L47F	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	47					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGTGTGCCAAGGTCAAGCTGC	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									16			9		0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29576392	29576392	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr6:29576392G>A	uc003nmt.4	-	15	2314	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	GABBR1_uc003nmp.4_Missense_Mutation_p.P543S|GABBR1_uc003nms.4_Missense_Mutation_p.P543S|GABBR1_uc003nmu.4_Missense_Mutation_p.P598S|GABBR1_uc011dlr.2_Missense_Mutation_p.P483S|GABBR1_uc011dls.1_3'UTR	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	660					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CAGACGAAAGGAAACTGGTTC	0.552000														37			17		0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638149	46638149	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:46638149G>A	uc002eec.4	-	5	954	c.914C>T	c.(913-915)cCt>cTt	p.P305L		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.	305										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CCTCAACAAAGGATTCTCAAT	0.378000														56			9		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49701918	49701918	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:49701918G>A	uc003cxe.4	+	8	11785	c.11671G>A	c.(11671-11673)Gat>Aat	p.D3891N		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3891					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCAGGTGCCGATGGGGAGAG	0.627000														86			27		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10436695	10436695	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:10436695C>T	uc010coi.3	-	20	2476	c.2348G>A	c.(2347-2349)cGa>cAa	p.R783Q	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R783Q|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.	783	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	p.R783*(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						CTTGTCATCTCGCATCTCCTC	0.488000														50			32		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137623470	137623470	+	Silent	SNP	G	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:137623470G>T	uc004cfe.3	+	7	1675	c.1293G>T	c.(1291-1293)ggG>ggT	p.G431G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	431	Nonhelical region.				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	p.G431G(2)		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)		CGGAGATCGGGCCGGGAATGC	0.632000														104			18		1.50039e-11	1.5581e-11	1	1	0
NOX5	79400	broad.mit.edu	37	15	69331224	69331224	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:69331224C>T	uc002ars.2	+	8	1440	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.P421S|NOX5_uc002arp.2_Missense_Mutation_p.P449S|NOX5_uc010bid.2_Missense_Mutation_p.P432S|NOX5_uc010bie.2_Missense_Mutation_p.P267S|NOX5_uc002arr.2_Missense_Mutation_p.P439S|NOX5_uc010bif.2_Intron	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	467	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAAGCGGCCCCCTTTTTTTCA	0.537000														119			22		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179736979	179736979	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:179736979C>T	uc002une.2	-	12	2078	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	CCDC141_uc002unf.1_Missense_Mutation_p.E133K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	79							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCTGGTTTTCCATGGTGTTC	0.423000														35			9		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735766	55735766	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:55735766G>A	uc010rit.2	-	0	174	c.174C>T	c.(172-174)tcC>tcT	p.S58S		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S58S(2)|p.S58F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTTCCAAAAGGGAAAAATTGC	0.348000														61			7		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2763037	2763037	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:2763037T>C	uc009zdu.1	+	34	4568	c.4255T>C	c.(4255-4257)Ttc>Ctc	p.F1419L	CACNA1C_uc001qkc.2_Missense_Mutation_p.F1371L|CACNA1C_uc001qjz.2_Missense_Mutation_p.F1371L|CACNA1C_uc001qkd.2_Missense_Mutation_p.F1371L|CACNA1C_uc001qke.2_Missense_Mutation_p.F1360L|CACNA1C_uc001qkf.2_Missense_Mutation_p.F1360L|CACNA1C_uc009zdw.1_Missense_Mutation_p.F1393L|CACNA1C_uc001qkg.2_Missense_Mutation_p.F1358L|CACNA1C_uc001qkh.2_Missense_Mutation_p.F1360L|CACNA1C_uc001qkl.2_Missense_Mutation_p.F1419L|CACNA1C_uc001qkj.2_Missense_Mutation_p.F1371L|CACNA1C_uc001qkk.2_Missense_Mutation_p.F1371L|CACNA1C_uc001qkn.2_Missense_Mutation_p.F1371L|CACNA1C_uc001qkm.2_Missense_Mutation_p.F1360L|CACNA1C_uc001qko.2_Missense_Mutation_p.F1391L|CACNA1C_uc001qkp.2_Missense_Mutation_p.F1371L|CACNA1C_uc001qkq.2_Missense_Mutation_p.F1399L|CACNA1C_uc001qku.2_Missense_Mutation_p.F1371L|CACNA1C_uc001qkr.2_Missense_Mutation_p.F1388L|CACNA1C_uc001qks.2_Missense_Mutation_p.F1371L|CACNA1C_uc001qkt.2_Missense_Mutation_p.F1371L|CACNA1C_uc009zdv.1_Missense_Mutation_p.F1368L|CACNA1C_uc001qkb.2_Missense_Mutation_p.F1371L|CACNA1C_uc001qki.1_Missense_Mutation_p.F1107L|CACNA1C_uc010sea.1_Missense_Mutation_p.F62L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1419					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)	CGTGATGCTGTTCTTCATCTA	0.637000														26			3		0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83971041	83971041	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:83971041C>T	uc003hoa.3	+	3	453	c.314C>T	c.(313-315)tCc>tTc	p.S105F	COPS4_uc010ijx.3_Missense_Mutation_p.S105F	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) (COPS4), mRNA.	105					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CAGGTTGCTTCCATAAGACAG	0.333000														88			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209960	140209960	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:140209960G>A	uc003lho.2	+	0	2311	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	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.E762K	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	751					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)			GTGCTCCGGGGAGGGCCCACC	0.602000														42			13		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160145964	160145964	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:160145964G>A	uc001fve.4	+	15	2873	c.2394G>A	c.(2392-2394)atG>atA	p.M798I	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.M301I|ATP1A4_uc001fvh.3_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	798					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTCCTGATGTTCATCATCC	0.532000														154			23		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647083	78647083	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:78647083G>A	uc001jxn.3	-	27	3829	c.3652C>T	c.(3652-3654)Cgg>Tgg	p.R1218W	KCNMA1_uc021ptu.1_Missense_Mutation_p.R1110W|KCNMA1_uc001jxj.2_Missense_Mutation_p.R1164W|KCNMA1_uc001jxk.1_Missense_Mutation_p.R836W|KCNMA1_uc009xrt.1_Missense_Mutation_p.R1009W|KCNMA1_uc001jxl.1_Missense_Mutation_p.R843W|KCNMA1_uc001jxo.3_Missense_Mutation_p.R1201W|KCNMA1_uc001jxm.3_Missense_Mutation_p.R1160W|KCNMA1_uc001jxq.3_Missense_Mutation_p.R1190W|BC030624_uc001jxp.3_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1218					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GACTTGGGCCGGTTCTGTCGG	0.577000														103			44		0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102339303	102339303	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:102339303C>T	uc004eju.3	-	2	389	c.318G>A	c.(316-318)ccG>ccA	p.P106P	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Silent_p.P106P|NXF3_uc011mrx.1_Silent_p.P17P	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	106						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						AGGTCCCATCCGGCATGTTCC	0.473000														147			28		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39442804	39442804	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr8:39442804G>A	uc003xni.3	+	1	120	c.65G>A	c.(64-66)gGa>gAa	p.G22E	ADAM18_uc003xnh.3_Missense_Mutation_p.G22E|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G22E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	22					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GGTTCTGAAGGAATATTTCTG	0.378000														43			8		0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137717808	137717808	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:137717808G>A	uc004fam.3	-	3	1073	c.411C>T	c.(409-411)ttC>ttT	p.F137F	FGF13_uc004fan.3_Silent_p.F84F|FGF13_uc011mwi.2_Silent_p.F118F|FGF13_uc004faq.3_Silent_p.F147F|FGF13_uc004far.3_Silent_p.F118F|FGF13_uc011mwj.2_Silent_p.F147F|FGF13_uc011mwk.2_Silent_p.F91F	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	137					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					ACTCAGGTGTGAAAAGTTCCT	0.358000														33			15		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157465	154157465	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:154157465G>A	uc004fmt.3	-	13	4771	c.4600C>T	c.(4600-4602)Cct>Tct	p.P1534S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1534	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGATGGCCAGGAGACCCATTG	0.468000														132			69		0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85617559	85617559	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:85617559C>T	uc010ysn.2	+	10	1456	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	ELMOD3_uc002spf.4_Intron|ELMOD3_uc002spg.4_Intron|ELMOD3_uc002sph.4_Intron|ELMOD3_uc010yso.2_Intron|ELMOD3_uc010ysp.2_Intron|ELMOD3_uc021vjy.1_Missense_Mutation_p.P141S	NM_032213	NP_115589	Q96FG2	ELMD3_HUMAN	Homo sapiens ELMO/CED-12 domain containing 3 (ELMOD3), transcript variant 1, mRNA.	0					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TGCTAGTTCTCCTTTCTCTGC	0.458000														107			24		0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79832865	79832865	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:79832865G>A	uc003hlk.3	+	15	3330	c.3164G>A	c.(3163-3165)aGg>aAg	p.R1055K	PAQR3_uc003hlm.3_Intron|PAQR3_uc003hln.3_Intron|BMP2K_uc010ijm.2_Missense_Mutation_p.R67K	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	1055						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GGGAAAGATAGGGGGAATGTC	0.507000														93			22		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96741118	96741118	+	Silent	SNP	C	T	T	rs60130805	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:96741118C>T	uc001kka.4	+	6	1165	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	CYP2C9_uc009xut.3_Silent_p.L378L	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	380					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAAACTATCTCATTCCCAAGG	0.458000														47			20		0	0	1	0	0
PFDN5	5204	broad.mit.edu	37	12	53689235	53689235	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:53689235G>A	uc001scl.3	+	1	1	c.-116_splice	c.e1-1		PFDN5_uc001scm.3_Splice_Site|PFDN5_uc001scn.3_Splice_Site|PFDN5_uc001sco.3_Splice_Site	NM_002624	NP_002615	Q99471	PFD5_HUMAN	Homo sapiens prefoldin subunit 5 (PFDN5), transcript variant 1, mRNA.						'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						TTCCGGGACGGAGGATCATAG	0.552000														35			8		0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40823923	40823923	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr21:40823923C>T	uc002yya.3	+	0	144	c.90C>T	c.(88-90)ccC>ccT	p.P30P	SH3BGR_uc002yxz.3_Intron	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	30					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CTGCCAGCCCCGACCTGGCAC	0.607000														71			34		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145538785	145538785	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:145538785C>T	uc001eoa.3	+	23	2972	c.2896C>T	c.(2896-2898)Cca>Tca	p.P966S	ITGA10_uc010oyv.2_Missense_Mutation_p.P835S|ITGA10_uc009wiw.3_Missense_Mutation_p.P823S|ITGA10_uc010oyw.2_Missense_Mutation_p.P911S	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	966					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGTCCTGGCCCAGAATTCAA	0.547000														48			8		0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31526644	31526644	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:31526644G>A	uc003jhg.2	-	3	755	c.396C>T	c.(394-396)gtC>gtT	p.V132V	DROSHA_uc003jhh.2_Silent_p.V132V|DROSHA_uc003jhi.2_Silent_p.V132V|DROSHA_uc010iui.1_Silent_p.V123V	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	132	Pro-rich.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.V132V(2)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTGCCCCAGGGACTGGGGGGT	0.607000														26			8		0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75774259	75774259	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:75774259A>G	uc004ajf.1	+	3	264	c.190A>G	c.(190-192)Acc>Gcc	p.T64A	ANXA1_uc004ajg.1_Missense_Mutation_p.T64A	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	64					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGATGAAGCAACCATCATTGA	0.378000														82			14		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468138	61468138	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr18:61468138G>A	uc002ljl.3	+	6	732	c.636G>A	c.(634-636)cgG>cgA	p.R212R	SERPINB7_uc002ljm.3_Silent_p.R212R|SERPINB7_uc010xet.2_Silent_p.R195R|SERPINB7_uc010dqg.3_Silent_p.R212R	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	212					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATCAGGAACGGAAGTTCAATT	0.403000														75			15		0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4927090	4927090	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:4927090C>T	uc002cyb.3	+	15	3582	c.3243C>T	c.(3241-3243)tcC>tcT	p.S1081S	UBN1_uc010uxw.2_Silent_p.S1081S|UBN1_uc002cyc.3_Silent_p.S1081S	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	1081					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCCCCGGGTCCTTCCACCATG	0.587000														197			63		0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44048994	44048994	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:44048994C>T	uc002xoh.2	+	6	882	c.792C>T	c.(790-792)ttC>ttT	p.F264F	PIGT_uc010ghb.2_Silent_p.F254F|PIGT_uc010zwt.2_Non-coding_Transcript|PIGT_uc010ghd.2_Silent_p.F171F|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Silent_p.F227F|PIGT_uc010ghf.2_Silent_p.F217F|PIGT_uc010zwz.2_Silent_p.F2F|PIGT_uc010zww.2_Silent_p.F208F|PIGT_uc010zwy.2_Silent_p.F162F|PIGT_uc002xoj.2_Silent_p.F264F|PIGT_uc010zwu.2_Silent_p.F2F|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Silent_p.F2F|PIGT_uc010zwx.2_Silent_p.F99F|PIGT_uc010zxa.2_Silent_p.F102F|PIGT_uc002xol.1_Silent_p.F120F|PIGT_uc010zxb.1_5'UTR	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	264					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TCCGGATGTTCTCCCGAACCC	0.597000														18			10		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6183197	6183197	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:6183197G>A	uc002mef.1	+	9	1463	c.1236G>A	c.(1234-1236)ttG>ttA	p.L412L	ACSBG2_uc002mee.1_Silent_p.L225L|ACSBG2_uc002meg.1_Silent_p.L412L|ACSBG2_uc002meh.1_Silent_p.L412L|ACSBG2_uc002mei.1_Silent_p.L362L|ACSBG2_uc010xiz.1_Silent_p.L412L	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	412					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCTAAGCTTGGACATACCTA	0.512000														69			15		0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018425	1018425	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:1018425C>T	uc003gce.3	+	5	1206	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	FGFRL1_uc003gcf.3_Missense_Mutation_p.R349C|FGFRL1_uc003gcg.3_Missense_Mutation_p.R349C|FGFRL1_uc010ibo.3_Missense_Mutation_p.R349C	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	349	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	p.R349C(2)|p.R319C(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTACAGCTTCCGCAGCGCCTT	0.692000														63			14		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114658	40114658	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:40114658G>A	uc001rmc.3	+	12	1731	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	522										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAAAACCAAGGAAAAAATGAA	0.294000														70			6		0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7861751	7861751	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr6:7861751G>A	uc003mxu.4	+	2	1103	c.925G>A	c.(925-927)Gac>Aac	p.D309N		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	309					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GCTGGAATTTGACATCACGGC	0.483000														98			51		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001446	11001446	+	Silent	SNP	G	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:11001446G>C	uc002daj.4	+	10	2233	c.2100G>C	c.(2098-2100)ccG>ccC	p.P700P	CIITA_uc002dai.4_Silent_p.P699P|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.P699P|CIITA_uc002dah.2_Silent_p.P651P|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	699	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AACACCCACCGCGGGCCGCAG	0.627000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									77			21		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203194942	203194942	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:203194942C>T	uc001gzn.2	-	2	208	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.E48K	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	38					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AAGCGAGCCTCCCCCTGTCTG	0.587000														66			6		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375371	113375371	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:113375371G>A	uc003eam.3	-	6	5569	c.5158C>T	c.(5158-5160)Cgt>Tgt	p.R1720C	KIAA2018_uc003eal.3_Missense_Mutation_p.R1664C	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1720					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						TGGTCCACACGACCCTGCATA	0.423000														95			17		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115898360	115898360	+	Missense_Mutation	SNP	C	T	T	rs145141232	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:115898360C>T	uc003ibu.3	-	2	1728	c.1049G>A	c.(1048-1050)gGg>gAg	p.G350E	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	350	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTAAAACTTCCCTGAAAATCC	0.333000														65			17		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183474360	183474360	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:183474360C>T	uc003fly.2	+	11	1630	c.1435C>T	c.(1435-1437)Ccg>Tcg	p.P479S		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	479					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCTCGAACCCCGACTTCCAC	0.448000														124			25		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13751234	13751234	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:13751234C>T	uc003jfd.2	-	64	11206	c.11164G>A	c.(11164-11166)Ggt>Agt	p.G3722S	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3722	AAA 5 (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)					TCTTCTAGACCTTTCATGGTG	0.468000									Kartagener syndrome					57			16		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32655963	32655964	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:32655963_32655964CC>TT	uc010ezu.3	+	11	3187_3188	c.3053_3054CC>TT	c.(3052-3054)acc>aTT	p.T1018I		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1018					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGCCATTCACCCTTGAAATCT	0.396000														45			12		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17472953	17472953	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:17472953C>T	uc002zlw.3	-	1	396	c.288G>A	c.(286-288)ctG>ctA	p.L96L	GAB4_uc010gqs.1_Silent_p.L96L	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	96	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CACAGAGGTTCAGGTTGATGG	0.498000														192			48		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63084959	63084959	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:63084959C>T	uc002alb.4	+	42	5856	c.5856C>T	c.(5854-5856)atC>atT	p.I1952I	TLN2_uc002alc.4_Silent_p.I345I	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1952					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGGAGCTGATCGAATGCGCCC	0.592000														41			11		0	0	1	0	0
KBTBD4	55709	broad.mit.edu	37	11	47595161	47595161	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:47595161G>A	uc001nfx.3	-	3	1049	c.878C>T	c.(877-879)tCc>tTc	p.S293F	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Missense_Mutation_p.S318F|KBTBD4_uc001nfz.3_Missense_Mutation_p.S309F|KBTBD4_uc001nfy.3_Missense_Mutation_p.S293F	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	293										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CCGTGGGATGGACCCTCCCAC	0.577000														31			12		0	0	1	0	0
DEFB129	140881	broad.mit.edu	37	20	210089	210089	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:210089G>A	uc002wda.3	+	1	260	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_080831	NP_543021	Q9H1M3	DB129_HUMAN	Homo sapiens defensin, beta 129 (DEFB129), mRNA.	77					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		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;0.122)			TGTACTTAATGAAGACGTCCA	0.343000														60			10		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905123	55905123	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:55905123C>T	uc010riz.2	-	0	72	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGAGGGGAATCTGGAGCTCTG	0.493000														79			38		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207530663	207530663	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:207530663C>T	uc002vbr.1	-	9	1188	c.1071G>A	c.(1069-1071)agG>agA	p.R357R		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	357						plasma membrane	zinc ion binding	p.R357K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GTTTGTGAATCCTTGTTTCAA	0.408000														51			7		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912739	94912739	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:94912739C>T	uc001ydd.1	-	2	906	c.846G>A	c.(844-846)ggG>ggA	p.G282G		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	282					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCTTCATTTTCCCCGGGTCAG	0.547000														57			28		0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69457861	69457861	+	Silent	SNP	C	G	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:69457861C>G	uc001opa.3	+	1	470	c.261C>G	c.(259-261)cgC>cgG	p.R87R		NM_053056	NP_444284	P24385	CCND1_HUMAN	Homo sapiens cyclin D1 (CCND1), mRNA.	87	Cyclin N-terminal.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to UV-A|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	ACCTGGACCGCTTCCTGTCGC	0.647000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)				22			4		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45226304	45226304	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:45226304G>A	uc001myo.3	+	5	880	c.631G>A	c.(631-633)Gac>Aac	p.D211N		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	211	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGATGGCTCAGACGAGACCAA	0.537000														49			12		0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641074	55641074	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:55641074G>T	uc010spg.2	+	0	3	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AATCAACTATGAGAAACCATA	0.318000														40			10		2.27111e-07	2.33283e-07	1	1	0
CCDC160	347475	broad.mit.edu	37	X	133379605	133379605	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:133379605C>T	uc011mvj.2	+	1	1096	c.775C>T	c.(775-777)Cta>Tta	p.L259L		NM_001101357	NP_001094827	A6NGH7	CC160_HUMAN	Homo sapiens coiled-coil domain containing 160 (CCDC160), mRNA.	259										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AAATGTGCTCCTAAAAGAAGA	0.388000														24			5		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103381207	103381207	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:103381207G>A	uc001dum.3	-	49	4150	c.3832C>T	c.(3832-3834)Cct>Tct	p.P1278S	COL11A1_uc001duk.3_Missense_Mutation_p.P462S|COL11A1_uc001dul.3_Missense_Mutation_p.P1266S|COL11A1_uc001dun.3_Missense_Mutation_p.P1227S|COL11A1_uc009weh.3_Missense_Mutation_p.P1150S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1266	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)		GCTTCCCCAGGAGGCCCTGGG	0.363000														65			10		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027082	37027082	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:37027082C>A	uc004ddl.2	+	0	651	c.599C>A	c.(598-600)cCg>cAg	p.P200Q		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	200										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTCTCCCCCCGGAGCCTCCC	0.642000														79			17		5.01169e-05	5.10625e-05	1	1	0
STAT5A	6776	broad.mit.edu	37	17	40458352	40458352	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:40458352C>T	uc002hzj.2	+	13	2209	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	STAT5A_uc010cya.2_Missense_Mutation_p.R523W|STAT5A_uc010cyb.2_Missense_Mutation_p.R492W|STAT5A_uc010cyc.2_Missense_Mutation_p.R493W|STAT5A_uc010cyd.1_Missense_Mutation_p.R11W|STAT5A_uc010cye.1_Missense_Mutation_p.R11W	NM_003152	NP_003143	P42229	STA5A_HUMAN	Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA.	523					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.N522S(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCAGAGCAACCGGGGCCTGAC	0.592000														36			31		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105179203	105179203	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:105179203C>T	uc004emd.3	+	20	3844	c.3541C>T	c.(3541-3543)Caa>Taa	p.Q1181*	NRK_uc010npc.1_Nonsense_Mutation_p.Q849*	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1181							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATCACCTAAGCAACCCTCTGA	0.413000										HNSCC(51;0.14)				85			49		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323740	31323740	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr18:31323740G>A	uc010dmg.1	+	11	3983	c.3928G>A	c.(3928-3930)Gag>Aag	p.E1310K	ASXL3_uc002kxq.2_Missense_Mutation_p.E1017K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1310	Ser-rich.				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						AGCCACTACAGAGGGCTCCAG	0.423000														141			12		0	0	1	0	0
SMG9	56006	broad.mit.edu	37	19	44252033	44252033	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:44252033G>C	uc002oxj.2	-	3	585	c.242C>G	c.(241-243)cCt>cGt	p.P81R	SMG9_uc002oxk.2_Missense_Mutation_p.P81R|SMG9_uc010eiy.1_Missense_Mutation_p.P81R	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	Homo sapiens smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG9), mRNA.	81	Pro-rich.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						GGCTGTTGGAGGTGGTGGCTG	0.617000														70			17		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735171	41735171	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:41735171G>A	uc003azw.3	+	8	1008	c.792G>A	c.(790-792)gaG>gaA	p.E264E		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	280					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTGGCCCAGAGCTGGACACCC	0.657000														78			16		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920414	4920414	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:4920414G>A	uc001qng.3	+	0	2073	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	KCNA6_uc021qtr.1_Missense_Mutation_p.D403N	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	403						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D402D(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGACGATGACGATTCGCTTTT	0.572000										HNSCC(72;0.22)				84			7		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257858	158257858	+	Silent	SNP	C	T	T	rs147207421		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:158257858C>T	uc003ipm.4	+	10	2262	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S	GRIA2_uc011cit.2_Silent_p.S554S|GRIA2_uc003ipl.4_Silent_p.S601S|GRIA2_uc003ipk.4_Silent_p.S554S|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	601					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.S601F(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCTGGTTTTCCTTGGGTGCCT	0.433000														85			24		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8377323	8377323	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:8377323C>T	uc001qui.2	-	3	665	c.106G>A	c.(106-108)Gat>Aat	p.D36N	FAM90A1_uc001quh.2_Missense_Mutation_p.D36N	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	36							nucleic acid binding|zinc ion binding	p.P35P(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCTTCTTCATCGGGCGGGGGA	0.657000														15			4		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660991	77660991	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:77660991C>T	uc011cbx.2	+	4	2618	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S	SHROOM3_uc011cbz.1_Silent_p.S379S|SHROOM3_uc003hkf.1_Silent_p.S430S|SHROOM3_uc003hkg.3_Silent_p.S333S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	555					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATGTCCCCTCCAAAGTCCATT	0.522000														124			30		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56952654	56952654	+	Silent	SNP	A	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:56952654A>T	uc002qne.3	-	6	2501	c.1710T>A	c.(1708-1710)ctT>ctA	p.L570L	ZNF667_uc010etl.3_Silent_p.L352L|ZNF667_uc002qnd.3_Silent_p.L570L|ZNF667_uc010etm.3_Silent_p.L513L	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GATGTCGAATAAGGTCTGAGC	0.413000														64			27		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118969826	118969826	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:118969826G>A	uc004bjn.3	+	2	1951	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	PAPPA_uc011lxp.1_Missense_Mutation_p.E317K|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	524	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.E524Q(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTCAGAGGAGGAGTTGGCAGG	0.443000														37			7		0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177113929	177113929	+	Silent	SNP	A	G	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:177113929A>G	uc003iuo.1	-	3	646	c.537T>C	c.(535-537)gtT>gtC	p.V179V		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	Homo sapiens spermatogenesis associated 4 (SPATA4), mRNA.	179					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TAGACCTGGAAACCAGGGGTA	0.363000														31			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183149	140183149	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:140183149G>A	uc003lhf.2	+	0	2367	c.2367G>A	c.(2365-2367)caG>caA	p.Q789Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.Q789Q	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	764					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)			AGGAGAAACAGGATGTGGACG	0.453000														66			25		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408573	10408573	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:10408573C>T	uc002gmo.3	-	20	2436	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	781	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTCATCTCGCATCTCCTC	0.463000														43			32		0	0	1	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367219	3367219	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:3367219C>T	uc002cut.4	+	5	767	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	ZNF75A_uc002cuv.4_Non-coding_Transcript	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	Homo sapiens zinc finger protein 75a (ZNF75A), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						CACTGAAAATCATCAGCCTGT	0.378000														55			16		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212589846	212589846	+	Silent	SNP	T	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:212589846T>C	uc002veg.1	-	5	794	c.696A>G	c.(694-696)cgA>cgG	p.R232R	ERBB4_uc002veh.1_Silent_p.R232R|ERBB4_uc010zji.1_Silent_p.R232R|ERBB4_uc010zjj.1_Silent_p.R232R|ERBB4_uc010fut.1_Silent_p.R232R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	232	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGCACATTCTCGATGGCAGC	0.488000										TSP Lung(8;0.080)				95			9		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420995	105420995	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:105420995G>A	uc010axc.1	-	6	913	c.793C>T	c.(793-795)Caa>Taa	p.Q265*	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Nonsense_Mutation_p.Q165*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	265						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTATGGATTGAAATTTTGGC	0.577000														12			5		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107412742	107412742	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:107412742C>T	uc004enw.4	-	36	3780	c.3677G>A	c.(3676-3678)gGg>gAg	p.G1226E	COL4A6_uc004env.4_Missense_Mutation_p.G1225E|COL4A6_uc011msn.2_Missense_Mutation_p.G1201E|COL4A6_uc010npk.3_Missense_Mutation_p.G1201E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1226	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACCTTTTTGCCCTCTCAGGCC	0.582000									Alport syndrome with Diffuse Leiomyomatosis					73			14		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	T	T	rs28934578		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)				30			24		0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60268635	60268635	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:60268635C>G	uc001npr.3	+	2	451	c.394C>G	c.(394-396)Cca>Gca	p.P132A	MS4A12_uc021qkb.1_Intron	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	132						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TGGTGGATACCCATTCTGGGG	0.383000														58			19		0	0	1	0	0
SSNA1	8636	broad.mit.edu	37	9	140083669	140083669	+	Silent	SNP	C	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:140083669C>A	uc004cls.2	+	1	329	c.204C>A	c.(202-204)cgC>cgA	p.R68R	ANAPC2_uc004clq.1_5'Flank|ANAPC2_uc004clr.1_5'Flank|ANAPC2_uc011mer.1_5'Flank	NM_003731	NP_003722	O43805	SSNA1_HUMAN	Homo sapiens Sjogren syndrome nuclear autoantigen 1 (SSNA1), mRNA.	68					G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus				breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		TTGCCTCTCGCAACGAGTTCG	0.647000														47			3		1	1	1	1	0
FGF13	2258	broad.mit.edu	37	X	137785178	137785178	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:137785178C>T	uc004fam.3	-	2	1032	c.370G>A	c.(370-372)Gca>Aca	p.A124T	FGF13_uc004fan.3_Missense_Mutation_p.A71T|FGF13_uc011mwi.2_Missense_Mutation_p.A105T|FGF13_uc004faq.3_Missense_Mutation_p.A134T|FGF13_uc004far.3_Missense_Mutation_p.A105T|FGF13_uc011mwj.2_Missense_Mutation_p.A134T|FGF13_uc011mwk.2_Missense_Mutation_p.A78T	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	124					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CTGTTCATTGCCAAGTACAGC	0.398000														48			15		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55277523	55277523	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:55277523G>A	uc001cyb.4	+	4	591	c.537G>A	c.(535-537)ctG>ctA	p.L179L	C1orf177_uc001cya.4_Silent_p.L179L	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	179										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACACCAAGCTGGAGGAGAATG	0.602000														33			14		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25890625	25890625	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr8:25890625G>A	uc003xes.2	-	5	792	c.527C>T	c.(526-528)cCa>cTa	p.P176L	DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Missense_Mutation_p.P176L	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	176					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGGGTCCGATGGAGTCTCATT	0.388000														62			13		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43711659	43711659	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr21:43711659C>T	uc011aev.2	+	12	1689	c.1615C>T	c.(1615-1617)Ccg>Tcg	p.P539S	ABCG1_uc002zam.3_Missense_Mutation_p.P494S|ABCG1_uc002zan.3_Missense_Mutation_p.P518S|ABCG1_uc002zao.3_Missense_Mutation_p.P513S|ABCG1_uc002zap.3_Missense_Mutation_p.P516S|ABCG1_uc002zaq.3_Missense_Mutation_p.P528S|ABCG1_uc002zar.3_Missense_Mutation_p.P527S|ABCG1_uc010gpb.2_Missense_Mutation_p.A168V	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	528	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GACGTCGCAGCCGTCCGACGC	0.652000														117			9		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834234	125834234	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:125834234A>T	uc001uhe.1	+	1	297	c.289A>T	c.(289-291)Atc>Ttc	p.I97F	TMEM132B_uc021rgl.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	97						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGAGAAGATAATCCCCCAGGA	0.498000														91			35		0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182853632	182853632	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:182853632C>T	uc003flh.4	-	4	1214	c.990G>A	c.(988-990)caG>caA	p.Q330Q		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	330					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CGACTGCTGTCTGGAACATCA	0.493000														253			95		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027536	37027536	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:37027536G>A	uc004ddl.2	+	0	1105	c.1053G>A	c.(1051-1053)gtG>gtA	p.V351V		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	351								p.V351M(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACTGGAGTGTCCCATCTCT	0.632000														171			24		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338351	103338351	+	Silent	SNP	G	A	A	rs142192165		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:103338351G>A	uc022ajr.1	-	9	1252	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	RELN_uc022ajq.1_Silent_p.L364L|RELN_uc010liz.3_Silent_p.L364L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	364					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.S363G(1)|p.L364I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCACTGGGTCGAGACTATCTT	0.418000														47			67		0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571018	155571019	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:155571018_155571019GA>AT	uc003fan.4	-	0	1230_1231	c.768_769TC>AT	c.(766-771)actctt>acATtt	p.L257F	SLC33A1_uc003fao.2_Missense_Mutation_p.L257F	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	257					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTACCTGAAAGAGTAACGATTC	0.386000														38			6		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8239073	8239073	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr8:8239073G>A	uc003wsh.4	-	0	185	c.185C>T	c.(184-186)cCc>cTc	p.P62L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	62							ATP binding|non-membrane spanning protein tyrosine kinase activity										CTCAGGCCTGGGAGGCAGGCG	0.657000														44			21		0	0	1	0	0
MCTS1	28985	broad.mit.edu	37	X	119739363	119739363	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:119739363C>T	uc004esx.3	+	1	461	c.113C>T	c.(112-114)cCa>cTa	p.P38L	MCTS1_uc011mub.2_Missense_Mutation_p.P39L|MCTS1_uc022cdn.1_5'UTR	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	Homo sapiens malignant T cell amplified sequence 1 (MCTS1), transcript variant 1, mRNA.	38					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						GGTATTGAACCATGGCTTAAT	0.338000														154			29		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118217042	118217042	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:118217042G>A	uc004era.4	-	12	4890	c.4890C>T	c.(4888-4890)ttC>ttT	p.F1630F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1630										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CACTGGAAGTGAACATCTTTT	0.388000														61			28		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21975288	21975288	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:21975288G>A	uc010iuc.2	-	2	896	c.438C>T	c.(436-438)ttC>ttT	p.F146F	CDH12_uc011cno.1_Silent_p.F146F|CDH12_uc003jgk.2_Silent_p.F146F	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	146	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F146L(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTTTGATGATGAATTCTGATT	0.433000										HNSCC(59;0.17)				81			17		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31333580	31333580	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:31333580G>A	uc003aje.1	-	15	2666	c.1302C>T	c.(1300-1302)acC>acT	p.T434T		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	496							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						CGCACTGGATGGTGGTGGGGA	0.557000														71			20		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152432838	152432838	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:152432838G>A	uc021vrb.1	-	76	11661	c.11632C>T	c.(11632-11634)Cgt>Tgt	p.R3878C	NEB_uc002txr.3_Missense_Mutation_p.R344C|NEB_uc002txu.3_Missense_Mutation_p.R5579C|NEB_uc021vrc.1_Missense_Mutation_p.R5579C|NEB_uc010fnx.3_Missense_Mutation_p.R3866C|NEB_uc021vrd.1_Missense_Mutation_p.R3878C	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3878					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCAATGCCACGCAACCACTCC	0.473000														78			14		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795504	142795504	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:142795504C>T	uc004fbz.3	-	1	928	c.174G>A	c.(172-174)agG>agA	p.R58R		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	58										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTATGCTTCCTGTAGTAAT	0.443000														127			68		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235967804	235967804	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:235967804C>T	uc001hxj.2	-	7	3730	c.3555_splice	c.e7+1	p.K1185_splice	LYST_uc009xgb.1_Splice_Site|LYST_uc010pxs.1_Splice_Site|LYST_uc001hxl.1_Splice_Site_p.K1185_splice	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1185					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTATTCATACCTTCTCAGTCA	0.418000														72			8		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200943879	200943879	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:200943879T>C	uc001gvs.2	-	33	5094	c.4777A>G	c.(4777-4779)Atc>Gtc	p.I1593V	KIF21B_uc009wzl.2_Missense_Mutation_p.I1593V|KIF21B_uc001gvr.2_Missense_Mutation_p.I1580V|KIF21B_uc010ppn.2_Missense_Mutation_p.I1580V	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1593					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTGGTGCAGATGGCATTGATG	0.592000														68			15		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937983	21937983	+	RNA	SNP	C	T	T	rs141885846	by1000genomes	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:21937983C>T	uc010tzj.1	-	0		c.2757G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TATGCCTGGGCTTTTTCTCCT	0.448000														569			36		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713652	70713652	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:70713652C>T	uc010ttg.2	-	0	867	c.216G>A	c.(214-216)gtG>gtA	p.V72V						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ACATGGAATCCACTATGTTGA	0.368000														40			10		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108641797	108641797	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:108641797C>T	uc022cch.1	-	9	2341	c.2256G>A	c.(2254-2256)atG>atA	p.M752I	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.M752I	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	752	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCAGATCCATCATGCAGAATG	0.527000														60			17		0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329646	7329646	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:7329646C>A	uc002ggw.3	+	2	409	c.336C>A	c.(334-336)ttC>ttA	p.F112L	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	112						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GCCACCATTTCTCCAACCATC	0.622000														104			50		2.17126e-26	2.29898e-26	1	1	0
GOLGB1	2804	broad.mit.edu	37	3	121437283	121437283	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:121437283G>A	uc010hrc.3	-	7	963	c.837C>T	c.(835-837)gtC>gtT	p.V279V	GOLGB1_uc003eei.4_Silent_p.V274V|GOLGB1_uc003eej.4_Silent_p.V240V|GOLGB1_uc021xcy.1_Silent_p.V199V|GOLGB1_uc011bjm.1_Silent_p.V160V|GOLGB1_uc010hrd.1_Silent_p.V238V	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	274					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCAAGTCAACGACCTGAGCAC	0.458000														66			15		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173343	51173343	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:51173343G>A	uc021tif.1	-	1	2821	c.2499C>T	c.(2497-2499)tcC>tcT	p.S833S	SALL1_uc021tid.1_Silent_p.S833S|SALL1_uc021tie.1_Silent_p.S930S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	930					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGTTGGACGGGGACAGAGCCT	0.557000														53			19		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095608	130095608	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:130095608C>T	uc010htj.1	+	2	1090	c.596C>T	c.(595-597)tCc>tTc	p.S199F	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	199	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						AGCACATTTTCCCAAAACATG	0.483000														46			20		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54212234	54212234	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr6:54212234T>C	uc003pcj.2	+	5	964	c.818T>C	c.(817-819)tTg>tCg	p.L273S	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	273					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CCTCAGAATTTGATCTCTTGC	0.438000														22			18		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130412580	130412580	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:130412580G>A	uc004ewe.4	-	11	2194	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	IGSF1_uc004ewd.3_Silent_p.I632I|IGSF1_uc022cdv.1_Silent_p.I623I|IGSF1_uc004ewf.2_Silent_p.I612I	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	632	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCGAGTGGCGATCCACCCGG	0.617000														101			50		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577448	14577448	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:14577448C>T	uc001rbw.3	+	1	757	c.599C>T	c.(598-600)tCc>tTc	p.S200F	ATF7IP_uc010shs.1_Missense_Mutation_p.S200F|ATF7IP_uc001rbu.3_Missense_Mutation_p.S200F|ATF7IP_uc001rbv.1_Missense_Mutation_p.S200F|ATF7IP_uc001rbx.3_Missense_Mutation_p.S200F|ATF7IP_uc010sht.1_Missense_Mutation_p.S200F|ATF7IP_uc001rby.4_Missense_Mutation_p.S200F|ATF7IP_uc001rbz.1_Missense_Mutation_p.S200F|ATF7IP_uc001rca.3_Missense_Mutation_p.S200F|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	200					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GATGATCTCTCCTCTGGTGAT	0.542000														99			14		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588827	247588827	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:247588827G>A	uc001icr.3	+	4	2220	c.2082G>A	c.(2080-2082)gaG>gaA	p.E694E	NLRP3_uc001ics.3_Silent_p.E694E|NLRP3_uc001icu.3_Silent_p.E694E|NLRP3_uc001icw.3_Silent_p.E694E|NLRP3_uc001icv.3_Silent_p.E694E|NLRP3_uc010pyw.2_Silent_p.E692E|NLRP3_uc001ict.1_Silent_p.E692E	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	694	Poly-Glu.				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)			AAGAGGAGGAGGAAAAGGAAG	0.527000														33			3		0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242684183	242684183	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:242684183C>T	uc002wce.1	+	5	917	c.744C>T	c.(742-744)ggC>ggT	p.G248G	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Silent_p.G114G|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	248	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACAACACGGGCTATGACCTGA	0.612000														93			29		0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719024	48719024	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:48719024G>A	uc003cun.3	-	4	882	c.788C>T	c.(787-789)tCc>tTc	p.S263F	NCKIPSD_uc003cum.3_Missense_Mutation_p.S256F|NCKIPSD_uc010hkh.2_Missense_Mutation_p.S263F	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	263	Pro-rich.				NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGATGCCTTGGAGGGAGGGGG	0.637000														73			14		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112684754	112684754	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:112684754G>A	uc021reb.1	-	28	4458	c.4062C>T	c.(4060-4062)gcC>gcT	p.A1354A		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GGCCCGACTGGGCTGCGATGG	0.498000														23			5		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513472	4513472	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:4513472C>T	uc002mar.1	-	2	458	c.458G>A	c.(457-459)gGc>gAc	p.G153D	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	153	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.S153P(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTCCTTGGTGCCGGTGAGGAC	0.657000														69			16		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974793	49974793	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:49974793C>A	uc010rhz.2	+	0	851	c.819C>A	c.(817-819)taC>taA	p.Y273*		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTGTATTCTACACTATGATAA	0.368000														85			12		0.000978159	0.000988621	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745664	77745664	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:77745664T>C	uc002snr.3	-	2	1746	c.1331A>G	c.(1330-1332)tAt>tGt	p.Y444C	LRRTM4_uc002snq.3_Missense_Mutation_p.Y444C|LRRTM4_uc002sns.2_Missense_Mutation_p.Y444C|LRRTM4_uc002snt.2_Missense_Mutation_p.Y445C	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	444						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCAAGACACATAGATCACCAA	0.483000														61			4		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50658898	50658898	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:50658898G>A	uc003bkb.1	-	15	4402	c.3890C>T	c.(3889-3891)cCc>cTc	p.P1297L	TUBGCP6_uc003bka.1_Missense_Mutation_p.P384L|TUBGCP6_uc010har.1_Missense_Mutation_p.P1289L|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1297					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGCCAGGGGGGCTCTGTTG	0.657000														25			4		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651295	96651295	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr6:96651295C>T	uc003pop.4	+	2	605	c.264C>T	c.(262-264)atC>atT	p.I88I	FUT9_uc021zcw.1_Silent_p.I88I	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	88					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGTTCAACATCCAAGGATGCC	0.448000														37			25		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115142972	115142972	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:115142972G>A	uc001efd.1	-	15	2659	c.1957_splice	c.e15-1	p.S653_splice	DENND2C_uc001eez.3_Intron|DENND2C_uc001efc.1_Splice_Site_p.S596_splice	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	653	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		GAGTTCAATGGACTGAAATGC	0.413000														67			21		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697250	153697250	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:153697250G>A	uc004flm.3	+	24	4545	c.4372G>A	c.(4372-4374)Gag>Aag	p.E1458K		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1458					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCACGGGCGAGGCACGATA	0.617000														95			32		0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130271285	130271285	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:130271285G>A	uc004brh.3	-	9	1489	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	FAM129B_uc004bri.3_Silent_p.F416F|FAM129B_uc004brj.4_Silent_p.F429F	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	429							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCGCTGCTTGAACACGGACG	0.637000														36			11		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123249598	123249598	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:123249598G>C	uc004bkf.3	-	13	1781	c.1600C>G	c.(1600-1602)Cca>Gca	p.P534A	CDK5RAP2_uc004bkg.3_Missense_Mutation_p.P534A|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.P534A|CDK5RAP2_uc004bki.3_Missense_Mutation_p.P333A	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	534					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTGCTGCCTGGTGGCTGTTGA	0.398000														107			17		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588526	153588526	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:153588526C>T	uc004fkk.2	-	21	3886	c.3637G>A	c.(3637-3639)Ggt>Agt	p.G1213S	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1213S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1213					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGCCATCACCGTGGTCCTGG	0.642000														111			25		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55780157	55780157	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:55780157C>A	uc010qhy.1	-	20	2956	c.2561G>T	c.(2560-2562)gGa>gTa	p.G854V	PCDH15_uc010qhq.2_Missense_Mutation_p.G854V|PCDH15_uc010qhr.2_Missense_Mutation_p.G849V|PCDH15_uc021pqv.1_Missense_Mutation_p.G849V|PCDH15_uc021pqw.1_Missense_Mutation_p.G861V|PCDH15_uc010qht.2_Missense_Mutation_p.G856V|PCDH15_uc021pqx.1_Missense_Mutation_p.G849V|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.G849V|PCDH15_uc021pqz.1_Missense_Mutation_p.G827V|PCDH15_uc010qhv.1_Missense_Mutation_p.G849V|PCDH15_uc010qhw.1_Missense_Mutation_p.G812V|PCDH15_uc010qhx.1_Missense_Mutation_p.G778V|PCDH15_uc010qhz.1_Missense_Mutation_p.G849V|PCDH15_uc010qia.1_Missense_Mutation_p.G827V|PCDH15_uc001jju.1_Missense_Mutation_p.G849V|PCDH15_uc010qib.1_Missense_Mutation_p.G827V|PCDH15_uc001jjw.3_Missense_Mutation_p.G849V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	849	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACATTTGCTCCAAGGTCGAC	0.383000										HNSCC(58;0.16)				102			34		3.76114e-14	3.96019e-14	1	1	0
BAGE1	0	broad.mit.edu	37	GL000237.1	810	810	+	RNA	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrGL000237.1:810C>T	uc011mgu.1	-	1		c.408G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		TCCAAGGATCCTACCACTTGG	0.587000														8			3		0	0	1	0	0
RAB5A	5868	broad.mit.edu	37	3	20025232	20025232	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:20025232C>T	uc003cbn.3	+	5	1100	c.565C>T	c.(565-567)Cca>Tca	p.P189S	RAB5A_uc010hey.3_Non-coding_Transcript|RAB5A_uc011awg.2_Missense_Mutation_p.P175S|PP2D1_uc010hez.3_Intron	NM_004162	NP_004153	P20339	RAB5A_HUMAN	Homo sapiens RAB5A, member RAS oncogene family (RAB5A), mRNA.	189					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						ACCACAAAATCCAGGAGCAAA	0.353000														31			5		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903202	5903202	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:5903202C>T	uc002wmg.3	+	3	718	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	138						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGATGAGCCCCAGTGGAGCCT	0.602000														23			4		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881619	26881619	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:26881619C>T	uc003jgs.1	-	11	2165	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	CDH9_uc011cnv.1_Missense_Mutation_p.E259K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	666					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G665W(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTATCTTCTTCCCCGCCGCCT	0.428000														104			25		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46285794	46285794	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:46285794G>A	uc001ros.1	+	18	5062	c.5062_splice	c.e18-1	p.D1688_splice	ARID2_uc001ror.3_Splice_Site_p.D1688_splice|ARID2_uc009zkg.1_Splice_Site_p.D1144_splice|ARID2_uc009zkh.1_Splice_Site_p.D1315_splice|ARID2_uc001rou.1_Splice_Site_p.D1022_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1688					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCTCAAAAAGGATAAGCACTG	0.383000			"""N, S, F"""		hepatocellular carcinoma									31			14		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75266095	75266095	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:75266095C>T	uc001xqj.4	+	4	4219	c.4095C>T	c.(4093-4095)ttC>ttT	p.F1365F	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATCGAGATTTCCGTGATAGGG	0.478000														113			45		0	0	1	0	0
ARX	170302	broad.mit.edu	37	X	25031088	25031088	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:25031088C>T	uc004dbp.4	-	1	1235	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	Homo sapiens aristaless related homeobox (ARX), mRNA.	342						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CGCTCCAGTTCCTCCAGCTGG	0.667000														16			6		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	69299326	69299326	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:69299326C>T	uc009xpn.1	-	3	517	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CTNNA3_uc001jmw.2_Missense_Mutation_p.V132M|CTNNA3_uc001jmx.4_Missense_Mutation_p.V132M|CTNNA3_uc009xpo.1_Intron|CTNNA3_uc001jna.2_Missense_Mutation_p.V144M	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	132					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGTCTCGTCACCGCAGCCAGC	0.483000														46			17		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69434053	69434053	+	Missense_Mutation	SNP	C	G	G	rs150489120		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr8:69434053C>G	uc010lyz.3	+	5	1076	c.785C>G	c.(784-786)tCt>tGt	p.S262C	C8orf34_uc010lyy.2_Missense_Mutation_p.S262C|C8orf34_uc003xyb.3_Missense_Mutation_p.S151C	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	176					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ACATTTAATTCTTCTCTTCTG	0.403000														28			8		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237395516	237395516	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:237395516C>T	uc002vwb.2	-	4	731	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	IQCA1_uc002vvz.1_Missense_Mutation_p.E226K|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.E226K	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	226	IQ.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTTCAGTTTCCTTACGTTGA	0.333000														12			7		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468262	50468263	+	Nonsense_Mutation	DNP	CC	GT	GT			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:50468262_50468263CC>GT	uc003tow.4	+	7	1652_1653	c.1497_1498CC>GT	c.(1495-1500)agccag>agGTag	p.499_500SQ>R*	IKZF1_uc022acq.1_Nonsense_Mutation_p.356_357SQ>R*|IKZF1_uc003tpa.4_Nonsense_Mutation_p.264_265SQ>R*|IKZF1_uc022acr.1_Nonsense_Mutation_p.274_275SQ>R*|IKZF1_uc022acs.1_Nonsense_Mutation_p.229_230SQ>R*|IKZF1_uc022act.1_Nonsense_Mutation_p.402_403SQ>R*|IKZF1_uc022acu.1_Nonsense_Mutation_p.412_413SQ>R*|IKZF1_uc003tox.4_Nonsense_Mutation_p.457_458SQ>R*|IKZF1_uc022acv.1_Nonsense_Mutation_p.360_361SQ>R*|IKZF1_uc022acw.1_Nonsense_Mutation_p.370_371SQ>R*|IKZF1_uc022acx.1_Nonsense_Mutation_p.412_413SQ>R*|IKZF1_uc022acy.1_Nonsense_Mutation_p.306_307SQ>R*|IKZF1_uc022acz.1_Nonsense_Mutation_p.316_317SQ>R*|IKZF1_uc011kck.2_Nonsense_Mutation_p.412_413SQ>R*|IKZF1_uc003toy.4_Nonsense_Mutation_p.457_458SQ>R*|IKZF1_uc003toz.4_Nonsense_Mutation_p.469_470SQ>R*|IKZF1_uc010kyx.3_Nonsense_Mutation_p.239_240SQ>R*	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	499					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCTACCACAGCCAGGACCGGTA	0.624000			"""D,T"""	BCL6	"""ALL, DLBCL"""									32			18		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66938175	66938175	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:66938175T>C	uc002jhq.3	-	2	341	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ABCA8_uc002jhp.3_Missense_Mutation_p.M1V|ABCA8_uc010wqq.2_Missense_Mutation_p.M1V|ABCA8_uc010wqr.2_Intron|ABCA8_uc002jhr.3_Missense_Mutation_p.M1V|ABCA8_uc002jhs.3_Missense_Mutation_p.M1V|ABCA8_uc002jht.3_Missense_Mutation_p.M1V	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTCTTCCTCATCTTGTCTTGT	0.308000														35			37		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79936966	79936966	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:79936966G>A	uc004edt.3	-	39	4791	c.4528C>T	c.(4528-4530)Cta>Tta	p.L1510L	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Silent_p.L1339L|BRWD3_uc004edq.3_Silent_p.L1106L|BRWD3_uc010nmj.2_Silent_p.L1106L|BRWD3_uc004edr.3_Silent_p.L1180L|BRWD3_uc004eds.3_Silent_p.L1106L|BRWD3_uc004edo.3_Silent_p.L1106L|BRWD3_uc004edu.3_Silent_p.L1180L|BRWD3_uc004edv.3_Silent_p.L1106L|BRWD3_uc004edw.3_Silent_p.L1106L|BRWD3_uc004edx.3_Silent_p.L1106L|BRWD3_uc004edy.3_Silent_p.L1106L|BRWD3_uc004edz.3_Silent_p.L1180L|BRWD3_uc004eea.3_Silent_p.L1180L|BRWD3_uc004eeb.3_Silent_p.L1106L	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1510										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCATCAAGTAGATATAGTGAA	0.383000														80			25		0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784467	30784467	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:30784467G>A	uc002wxn.2	-	2	1496	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	427						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)			GGGTTACACGGGGGCAGGTTG	0.607000														25			16		0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153664162	153664162	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:153664162G>A	uc004flf.1	+	9	1399	c.1338G>A	c.(1336-1338)atG>atA	p.M446I	ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Missense_Mutation_p.M406I|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.4_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	446					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCTGCACATGATCCTCAGCC	0.572000														341			71		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41539149	41539149	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr21:41539149C>T	uc002yyq.1	-	15	3466	c.3014G>A	c.(3013-3015)tGg>tAg	p.W1005*	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.	1005	Fibronectin type-III 2.				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)				GTTTACCTTCCATGTGACCCT	0.493000														54			13		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606042	84606042	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:84606042C>T	uc004amn.3	+	3	704	c.657C>T	c.(655-657)gaC>gaT	p.D219D		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	219	Pro-rich.					integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CACTGAGGGACCCTCTGCCAC	0.557000														180			25		0	0	1	0	0
CERS4	79603	broad.mit.edu	37	19	8320588	8320588	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:8320588C>T	uc002mjg.3	+	4	709	c.389C>T	c.(388-390)aCc>aTc	p.T130I	CERS4_uc002mji.3_5'UTR|CERS4_uc010dvz.3_Missense_Mutation_p.T130I	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	Homo sapiens ceramide synthase 4 (CERS4), mRNA.	130						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CCCCAGCTGACCAAGAAGTTC	0.667000														13			4		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170038070	170038070	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:170038070C>T	uc002ues.3	-	51	10270	c.10057G>A	c.(10057-10059)Gga>Aga	p.G3353R		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3353					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTGTTGGTTCCATCCATGCCT	0.507000														48			21		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770734	37770734	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:37770734G>A	uc003asq.4	-	2	1627	c.841C>T	c.(841-843)Ctt>Ttt	p.L281F	ELFN2_uc021wph.1_Missense_Mutation_p.L281F	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	281						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCACCGAAAGGATCTCGTCG	0.692000														77			21		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55085369	55085369	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:55085369G>A	uc010ern.3	+	1	493	c.24G>A	c.(22-24)ctG>ctA	p.L8L	LILRA1_uc002qgg.4_Silent_p.L8L|LILRA1_uc002qgf.3_Silent_p.L8L|LILRA1_uc010yfe.1_Silent_p.L8L|LILRA1_uc010yff.1_Silent_p.L8L|LILRA1_uc010ero.3_Silent_p.L8L|LILRA1_uc010yfg.1_Silent_p.L8L			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	8					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCACGGTCCTGATCTGTCTCG	0.612000														99			22		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162463840	162463840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:162463840G>A	uc003iqh.3	-	8	1457	c.1021C>T	c.(1021-1023)Cca>Tca	p.P341S	FSTL5_uc003iqi.3_Missense_Mutation_p.P340S|FSTL5_uc010iqv.3_Missense_Mutation_p.P340S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	341	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CGGATGACTGGAGGAACTAAA	0.388000														56			13		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57333026	57333026	+	Missense_Mutation	SNP	C	T	T	rs138565582	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:57333026C>T	uc002qnu.2	-	3	1013	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Missense_Mutation_p.R96Q|PEG3_uc010etp.2_Missense_Mutation_p.R96Q|PEG3_uc010ygs.1_Missense_Mutation_p.R96Q|PEG3_uc002qnq.2_Missense_Mutation_p.R96Q|PEG3_uc002qnt.2_Missense_Mutation_p.R222Q|PEG3_uc002qnv.2_Missense_Mutation_p.R221Q|PEG3_uc002qnw.2_Missense_Mutation_p.R96Q|PEG3_uc002qnx.2_Missense_Mutation_p.R95Q|PEG3_uc010etr.2_Missense_Mutation_p.R221Q	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	221					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S220F(1)|p.R221R(1)		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)		TACCTGAGATCGGGACTCATA	0.527000														134			30		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209776595	209776595	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:209776595C>T	uc001hhd.3	+	3	360	c.258C>T	c.(256-258)atC>atT	p.I86I	CAMK1G_uc001hhf.4_Silent_p.I86I|CAMK1G_uc001hhe.3_Silent_p.I86I	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	86	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TGGAGGACATCTATGAGAGCA	0.478000														29			7		0	0	1	0	0
NPM1	4869	broad.mit.edu	37	5	170834760	170834760	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:170834760C>T	uc003mbi.3	+	9	1073	c.828C>T	c.(826-828)ttC>ttT	p.F276F	NPM1_uc003mbj.3_Silent_p.F247F	NM_002520	NP_002511	P06748	NPM_HUMAN	Homo sapiens nucleophosmin (nucleolar phosphoprotein B23, numatrin) (NPM1), transcript variant 1, mRNA.	276	Required for nucleolar localization.				CenH3-containing nucleosome assembly at centromere|DNA repair|anti-apoptosis|cell aging|centrosome cycle|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	NF-kappaB binding|RNA binding|Tat protein binding|histone binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAATTGCTTCCGGATGACTG	0.358000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""									47			17		0	0	1	0	0
RNASE13	440163	broad.mit.edu	37	14	21501984	21501984	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:21501984C>T	uc021rot.1	-	0	464	c.464G>A	c.(463-465)gGa>gAa	p.G155E	NDRG2_uc010tll.2_Intron|RNASE13_uc001vzj.3_Missense_Mutation_p.G155E	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	Homo sapiens ribonuclease, RNase A family, 13 (non-active) (RNASE13), mRNA.	155						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GAATTAAATTCCCGAATAGAG	0.488000														64			33		0	0	1	0	0
GYG1	2992	broad.mit.edu	37	3	148714585	148714585	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:148714585C>A	uc003ewn.3	+	3	608	c.375C>A	c.(373-375)gaC>gaA	p.D125E	GYG1_uc011bnp.2_Missense_Mutation_p.D125E|GYG1_uc003ewo.3_Missense_Mutation_p.D125E|GYG1_uc003ewp.3_Missense_Mutation_p.D125E	NM_004130	NP_004121	P46976	GLYG_HUMAN	Homo sapiens glycogenin 1 (GYG1), transcript variant 1, mRNA.	125					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAGCACCAGACCCAGGGTGGC	0.438000														40			14		1.5842e-08	1.63614e-08	1	1	0
SLC2A2	6514	broad.mit.edu	37	3	170715882	170715882	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:170715882C>T	uc003fhe.1	-	10	1694	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	SLC2A2_uc003fhf.1_Missense_Mutation_p.G289E|SLC2A2_uc011bpu.1_Missense_Mutation_p.G335E	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	462					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			CACATAAGGTCCACAGAAGTC	0.403000														29			9		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30495205	30495205	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:30495205C>T	uc002dyi.4	+	7	956	c.780C>T	c.(778-780)atC>atT	p.I260I	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Silent_p.I177I|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	260	VWFA.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AAGTGCTTATCATCATCACGG	0.587000														182			40		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71791240	71791240	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:71791240G>C	uc010fen.3	+	23	2603	c.2462G>C	c.(2461-2463)cGt>cCt	p.R821P	DYSF_uc010fei.3_Missense_Mutation_p.R820P|DYSF_uc010feh.3_Missense_Mutation_p.R789P|DYSF_uc002sig.4_Missense_Mutation_p.R789P|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R834P|DYSF_uc010fee.3_Missense_Mutation_p.R803P|DYSF_uc010fef.3_Missense_Mutation_p.R820P|DYSF_uc002sie.3_Missense_Mutation_p.R803P|DYSF_uc010feo.3_Missense_Mutation_p.R835P|DYSF_uc010fej.3_Missense_Mutation_p.R790P|DYSF_uc010fel.3_Missense_Mutation_p.R790P|DYSF_uc010fem.3_Missense_Mutation_p.R804P|DYSF_uc002sif.3_Missense_Mutation_p.R804P|DYSF_uc010fek.3_Missense_Mutation_p.R821P	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	803						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAGACAAGCGTGTGGCATAC	0.612000														67			15		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	88123744	88123744	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:88123744G>A	uc001kdl.1	-	1	290	c.189C>T	c.(187-189)tcC>tcT	p.S63S	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	63						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGACCTTGATGGAGTAGGTGA	0.612000										Multiple Myeloma(13;0.14)				34			13		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106790979	106790979	+	RNA	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:106790979G>A	uc021ser.1	-	619		c.17413C>T								Parts of antibodies, mostly variable regions.																		GTGTCTGGGCGCACAATGACT	0.572000														355			5		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63721235	63721235	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:63721235T>A	uc003tsx.3	+	3	459	c.190T>A	c.(190-192)Ttg>Atg	p.L64M		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TAAGCCAGACTTGATCACCTG	0.358000														53			7		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90745732	90745732	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:90745732C>T	uc011lti.2	-	3	2249	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	740																	CCCTCTGGAACTGCTTACATG	0.567000														42			20		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323671	31323671	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr18:31323671G>A	uc010dmg.1	+	11	3914	c.3859G>A	c.(3859-3861)Gga>Aga	p.G1287R	ASXL3_uc002kxq.2_Missense_Mutation_p.G994R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1287	Ser-rich.				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						AACCATCCAGGGAACTGACAC	0.408000														54			10		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	657266	657266	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:657266G>A	uc001qii.1	+	7	784	c.784G>A	c.(784-786)Gca>Aca	p.A262T	B4GALNT3_uc001qij.1_Missense_Mutation_p.A164T	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	262						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CGTGGAAGTTGCAGTGAGTTT	0.602000														16			5		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198369	15198369	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:15198369C>T	uc010xoe.2	+	0	493	c.493C>T	c.(493-495)Caa>Taa	p.Q165*		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCTCATGGCTCAACTGACCTT	0.562000														69			9		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39813792	39813792	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:39813792C>T	uc003axt.3	+	4	537	c.488C>T	c.(487-489)tCg>tTg	p.S163L	TAB1_uc003axr.3_Missense_Mutation_p.S239L|TAB1_uc011aok.2_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.S163L	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	163	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGGGAAATTTCGGGAGGGGCC	0.582000														46			25		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143212502	143212502	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:143212502C>T	uc003evn.3	-	10	1517	c.1308G>A	c.(1306-1308)atG>atA	p.M436I		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	436					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TACCTGAAAACATCATCATGT	0.403000														66			12		0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70235600	70235600	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:70235600C>T	uc001xll.3	+	4	1734	c.283C>T	c.(283-285)Cga>Tga	p.R95*	SRSF5_uc021rvj.1_Nonsense_Mutation_p.R95*|LOC100289511_uc021rvk.1_5'Flank|SRSF5_uc001xln.1_Nonsense_Mutation_p.R95*|SRSF5_uc001xlo.3_Nonsense_Mutation_p.R95*|SRSF5_uc001xlp.3_Nonsense_Mutation_p.R95*	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.	95					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding			large_intestine(1)|liver(1)	2						TCGCAGACCTCGAAATGATAG	0.453000														32			14		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5352179	5352179	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:5352179G>A	uc003soi.4	-	26	8692	c.8343C>T	c.(8341-8343)ttC>ttT	p.F2781F		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2781							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGGCTGGCAGGAAGGCGGCGA	0.701000														48			87		0	0	1	0	0
DYDC1	143241	broad.mit.edu	37	10	82098285	82098285	+	Missense_Mutation	SNP	C	T	T	rs140462481	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:82098285C>T	uc001kby.1	-	6	607	c.442G>A	c.(442-444)Gat>Aat	p.D148N	DYDC1_uc001kbx.3_Missense_Mutation_p.D148N|DYDC1_uc009xsr.1_Missense_Mutation_p.D148N			Q8WWB3	DYDC1_HUMAN	Homo sapiens DPY30 domain containing 1 (DYDC1), mRNA.	148										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			CCATAACGATCGCTGATTTCA	0.333000														47			20		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76892609	76892609	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:76892609G>A	uc001oyb.2	+	22	3150	c.2878G>A	c.(2878-2880)Gag>Aag	p.E960K	MYO7A_uc010rsl.2_Missense_Mutation_p.E960K|MYO7A_uc010rsm.1_Missense_Mutation_p.E949K|MYO7A_uc001oyc.2_Missense_Mutation_p.E960K|MYO7A_uc001oyd.3_Missense_Mutation_p.E300K|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.E171K	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	960					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAGGCCAGGAGGGCCAGGC	0.607000														29			4		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77258649	77258649	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:77258649G>A	uc004ecx.4	+	5	1783	c.1623G>A	c.(1621-1623)atG>atA	p.M541I	ATP7A_uc004ecw.2_Missense_Mutation_p.M541I	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	541	HMA 5.				ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AACCCCCAATGATAGCAGAGT	0.393000														154			54		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47541477	47541477	+	Missense_Mutation	SNP	G	A	A	rs61735828	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr21:47541477G>A	uc002zia.1	+	17	1548	c.1466G>A	c.(1465-1467)cGg>cAg	p.R489Q	COL6A2_uc002zhz.1_Missense_Mutation_p.R489Q|COL6A2_uc002zhy.1_Missense_Mutation_p.R489Q	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	489	Triple-helical region.		R -> Q.		axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGGATCTCGGGGAGACCCC	0.652000														67			10		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458507	120458507	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:120458507G>A	uc001eik.3	-	33	7135	c.6838C>T	c.(6838-6840)Cct>Tct	p.P2280S		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2280					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTATGCCAGGATGGGTGCCC	0.572000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					121			17		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32014185	32014185	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr6:32014185G>A	uc003nzl.2	-	30	10569	c.10367C>T	c.(10366-10368)gCt>gTt	p.A3456V	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3503	Fibronectin type-III 26.				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						GGTCTCCTCAGCCACGGTCAG	0.632000														21			9		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31618509	31618509	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:31618509C>T	uc002hht.3	-	0	1498	c.625G>A	c.(625-627)Gac>Aac	p.D209N	ASIC2_uc002hhu.3_Intron	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	158					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCCAGGCGGTCCATGAAGGCG	0.697000														29			24		0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77158082	77158083	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:77158082_77158083GG>AA	uc001syk.1	+	0	229_230	c.66_67GG>AA	c.(64-69)gcgggc>gcAAgc	p.G23S	ZDHHC17_uc001syi.1_Non-coding_Transcript|ZDHHC17_uc001syj.2_Non-coding_Transcript	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	23					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATACCGAAGCGGGCTGTGTGCC	0.649000														12			3		0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106892049	106892049	+	Silent	SNP	T	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:106892049T>C	uc004bbv.3	+	20	3202	c.2914T>C	c.(2914-2916)Ttg>Ctg	p.L972L	SMC2_uc004bbw.3_Silent_p.L972L|SMC2_uc011lvl.2_Silent_p.L972L|SMC2_uc004bbx.3_Silent_p.L972L|SMC2_uc004bby.3_Non-coding_Transcript	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	972					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ACTTCAGAAGTTGCAAGAAAT	0.383000														75			10		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179733849	179733849	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:179733849C>T	uc002une.2	-	14	2507	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	CCDC141_uc002unf.1_Missense_Mutation_p.E276K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	222							protein binding	p.E222K(1)|p.E797K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTACCTCTTCCTTGACTTGA	0.353000														85			18		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577368	9577368	+	Missense_Mutation	SNP	G	A	A	rs74178149		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:9577368G>A	uc002mlp.1	-	9	2465	c.2255C>T	c.(2254-2256)tCc>tTc	p.S752F	ZNF560_uc010dwr.1_Missense_Mutation_p.S646F	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACGTCCTGAGGATGTACGGAA	0.428000														66			22		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186018	127186018	+	Silent	SNP	G	A	A	rs141145093		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:127186018G>A	uc004eum.3	-	0	365	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	56						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTTGCCCCACGAAGTACTTCT	0.498000														164			32		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118198985	118198985	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:118198985G>A	uc001two.2	-	3	785	c.730C>T	c.(730-732)Ccg>Tcg	p.P244S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	273	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)					GTGCCCGGCGGGGTCACGGTG	0.701000														178			60		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569693	179569693	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:179569693C>T	uc021vsy.1	-	101	26098	c.25873_splice	c.e101-1	p.E8625_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.E5286_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9552	Ig-like 69.						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)			TCCTCAATTTCCTGAGAAGAA	0.373000														77			19		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183245373	183245373	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:183245373T>C	uc003ivd.1	+	0	275	c.200T>C	c.(199-201)gTt>gCt	p.V67A	ODZ3_uc021xux.1_Missense_Mutation_p.V67A|ODZ3_uc010irv.1_Missense_Mutation_p.V67A	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	67	Teneurin N-terminal.				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)		AAGGATTTGGTTCACAGAGAA	0.468000														58			21		0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	182993136	182993136	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:182993136G>A	uc001gpy.4	+	0	542	c.285G>A	c.(283-285)ggG>ggA	p.G95G	LAMC1_uc001gpx.3_Silent_p.G95G	NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	95	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGACGCCGGGCAGCCCCACC	0.662000											OREG0014040	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			3		0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4095772	4095772	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:4095772G>T	uc021qco.1	+	6	1400	c.832G>T	c.(832-834)Gag>Tag	p.E278*	STIM1_uc001lyv.2_Nonsense_Mutation_p.E278*|STIM1_uc009yef.2_Nonsense_Mutation_p.E278*|STIM1_uc009yeg.2_Nonsense_Mutation_p.E105*	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	278	Glu-rich.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AGTGGAGGTGGAGAAGGTCCA	0.627000														17			9		2.17888e-05	2.22599e-05	1	1	0
APOB	338	broad.mit.edu	37	2	21237426	21237426	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:21237426G>T	uc002red.3	-	23	3864	c.3736C>A	c.(3736-3738)Cct>Act	p.P1246T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1246					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)	TGGGTATAAGGAAGACTCCCA	0.458000														26			10		6.42651e-13	6.71056e-13	1	1	0
PHKA2	5256	broad.mit.edu	37	X	18913297	18913297	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:18913297A>C	uc004cyv.4	-	30	3725	c.3295T>G	c.(3295-3297)Tcc>Gcc	p.S1099A	PHKA2_uc010nfe.1_Missense_Mutation_p.S131A|PHKA2_uc010nff.1_Non-coding_Transcript	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	1099	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCATCGATGGAGAGACCGTGG	0.537000														96			44		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649409	7649409	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:7649409C>T	uc001qsz.3	-	5	1227	c.1099_splice	c.e5+1	p.D367_splice	CD163_uc001qta.3_Splice_Site_p.D367_splice|CD163_uc009zfw.2_Splice_Site_p.D367_splice	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	367					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						TTTAACTTACCAGAACATGTC	0.413000														36			8		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137911	63137911	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:63137911C>A	uc001nww.3	+	0	651	c.383C>A	c.(382-384)tCa>tAa	p.S128*	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	128					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATCTCCTTCTCATCCACCATC	0.498000														59			13		0.000151284	0.000153725	1	1	0
ATXN7L2	127002	broad.mit.edu	37	1	110033910	110033910	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:110033910C>T	uc001dxr.3	+	9	1740	c.1725C>T	c.(1723-1725)tcC>tcT	p.S575S	ATXN7L2_uc001dxs.3_Silent_p.S202S|CYB561D1_uc010ovl.2_5'Flank|CYB561D1_uc010ovm.2_5'Flank|CYB561D1_uc001dxu.3_5'Flank|CYB561D1_uc001dxw.3_5'Flank|CYB561D1_uc010ovn.2_5'Flank|CYB561D1_uc010ovo.2_5'Flank|CYB561D1_uc009wfd.3_5'Flank|CYB561D1_uc010ovp.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	575										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGAAGTTATCCCCTGGCCCTA	0.597000														101			14		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248005106	248005106	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:248005106G>A	uc001idn.1	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGATGAGCAGGAAAATGACAA	0.507000														31			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106833273	106833273	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:106833273C>T	uc021ser.1	-	508		c.14784_splice	c.e508-1		abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCCTTTAGGCTGCTGATCTG	0.537000														23			10		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763773	82763773	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:82763773C>T	uc003uhx.2	-	2	3382	c.3093G>A	c.(3091-3093)aaG>aaA	p.K1031K	PCLO_uc003uhv.2_Silent_p.K1031K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	977					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						ATTTGCTATCCTTAATAGGTG	0.433000														15			26		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528830	20528830	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:20528830C>T	uc001vwn.1	+	0	627	c.627C>T	c.(625-627)acC>acT	p.T209T		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCTCTTTCACCTGTTTCATCC	0.448000														58			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106790945	106790945	+	Splice_Site	SNP	G	C	C	rs148991419	by1000genomes	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:106790945G>C	uc021ser.1	-	620		c.17447_splice	c.e620+1							Parts of antibodies, mostly variable regions.																		CTGATTTCCCGCCAGCGTTCC	0.597000														202			5		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330300	125330300	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:125330300G>A	uc004bmp.1	-	0	457	c.457C>T	c.(457-459)Cct>Tct	p.P153S		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGAGGTGAGGAAATGAGCAG	0.547000														61			12		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678171	66678171	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr18:66678171G>A	uc002lkk.2	+	9	1487	c.1264_splice	c.e9-1	p.E422_splice	CCDC102B_uc002lki.2_Splice_Site_p.E422_splice	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	422										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCTTTGAAAGGAATTACTGAA	0.318000														20			4		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9523305	9523305	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:9523305G>A	uc002wnl.2	-	9	2477	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	PAK7_uc002wnk.2_Silent_p.F644F|PAK7_uc002wnj.2_Silent_p.F644F|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	644	Protein kinase.						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)			GAGGCTCATTGAAGTAGGGGG	0.532000														103			21		0	0	1	0	0
PAGE3	139793	broad.mit.edu	37	X	55289750	55289750	+	RNA	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:55289750G>A	uc022bxs.1	-	2		c.322C>T			PAGE3_uc011mon.2_Non-coding_Transcript					Homo sapiens P antigen family, member 3 (prostate associated) (PAGE3), non-coding RNA.											endometrium(1)|kidney(1)|lung(1)	3						TCAATTGGTGGTTCCTCTTGT	0.458000														26			7		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415717	121415717	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:121415717T>A	uc010hrc.3	-	12	3779	c.3653A>T	c.(3652-3654)aAt>aTt	p.N1218I	GOLGB1_uc003eei.4_Missense_Mutation_p.N1213I|GOLGB1_uc003eej.4_Missense_Mutation_p.N1179I|GOLGB1_uc021xcy.1_Missense_Mutation_p.N1138I|GOLGB1_uc011bjm.1_Missense_Mutation_p.N1099I|GOLGB1_uc010hrd.1_Missense_Mutation_p.N1177I	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1213					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTGCAAGCGATTATAGTCATC	0.433000														143			32		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10251809	10251809	+	Silent	SNP	A	G	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:10251809A>G	uc002mng.3	-	29	3498	c.3318T>C	c.(3316-3318)ccT>ccC	p.P1106P	DNMT1_uc002mnf.3_Silent_p.P30P|DNMT1_uc010xlc.2_Silent_p.P1122P|DNMT1_uc002mnh.3_Silent_p.P1001P|DNMT1_uc010xld.2_Silent_p.P1106P	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1106					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	p.P1106S(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTTTGTTTCCAGGGCTACGGG	0.463000														102			25		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39637059	39637059	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:39637059C>T	uc002hws.3	-	0	334	c.291G>A	c.(289-291)gaG>gaA	p.E97E		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	97	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TGGTCTCCTTCTCATTGCCAG	0.647000														47			41		0	0	1	0	0
ANKRD54	129138	broad.mit.edu	37	22	38229717	38229717	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:38229717C>T	uc003auc.3	-	3	629	c.521G>A	c.(520-522)gGg>gAg	p.G174E	ANKRD54_uc003aud.3_Missense_Mutation_p.G51E	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA.	174										lung(1)	1	Melanoma(58;0.045)					GTTCCCCAGCCCATCTCGCTG	0.547000														39			5		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158256974	158256974	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:158256974C>A	uc003ipm.4	+	9	1877	c.1418C>A	c.(1417-1419)gCc>gAc	p.A473D	GRIA2_uc011cit.2_Missense_Mutation_p.A426D|GRIA2_uc003ipl.4_Missense_Mutation_p.A473D|GRIA2_uc003ipk.4_Missense_Mutation_p.A426D|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	473					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAGTATGGGGCCAGGGATGCA	0.438000														21			13		0.0242445	0.0243735	1	1	0
LCNL1	401562	broad.mit.edu	37	9	139879253	139879253	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:139879253G>A	uc004ckh.1	+	2	879	c.285G>A	c.(283-285)cgG>cgA	p.R95R		NM_207510	NP_997393	Q6ZST4	LCNL1_HUMAN	Homo sapiens lipocalin-like 1 (LCNL1), mRNA.	95							binding										GGGGCCTGCGGAACCAGTGGC	0.657000														9			3		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629267	47629267	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:47629267G>A	uc001rpq.3	+	1	946	c.421G>A	c.(421-423)Gag>Aag	p.E141K	FAM113B_uc001rpn.3_Missense_Mutation_p.E141K|FAM113B_uc021qxi.1_Missense_Mutation_p.E141K	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	141							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					AAGCTACCTGGAGAACCTGGA	0.622000														57			19		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501050	195501050	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:195501050G>A	uc021xjp.1	-	3	13226	c.13070C>T	c.(13069-13071)tCc>tTc	p.S4357F	MUC4_uc003fuz.3_Missense_Mutation_p.P37S|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Missense_Mutation_p.S98F|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Missense_Mutation_p.S98F|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.S121F|MUC4_uc003fvp.3_Missense_Mutation_p.S70F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1114					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACGTAGAGGGAATCACGGAG	0.652000														26			6		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2933228	2933228	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:2933228C>T	uc011mhj.2	+	3	558	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	186						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)				TTCCCAAGTTCGCCCGCTGGT	0.507000														16			14		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	47000033	47000033	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:47000033G>A	uc001jec.3	+	2	1288	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	GPRIN2_uc021ppt.1_Missense_Mutation_p.D385N	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	385										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TGTGCGATGGGATGCTGAGGG	0.632000														72			11		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341093	121341093	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:121341093C>T	uc003eeg.2	+	2	1027	c.817C>T	c.(817-819)Cag>Tag	p.Q273*		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	273					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACAGGAAAATCAGAAGCAGCA	0.493000														39			14		0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41503135	41503136	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:41503135_41503136GG>AA	uc001cgo.3	-	12	1915_1916	c.1546_1547CC>TT	c.(1546-1548)ccc>TTc	p.P516F	SCMH1_uc010ojr.2_Missense_Mutation_p.P358F|SCMH1_uc001cgp.3_Missense_Mutation_p.P455F|SCMH1_uc001cgr.3_Missense_Mutation_p.P455F|SCMH1_uc001cgq.3_Missense_Mutation_p.P469F|SCMH1_uc001cgs.3_Missense_Mutation_p.P526F|SCMH1_uc001cgt.3_Missense_Mutation_p.P455F|SCMH1_uc010ojs.1_Non-coding_Transcript|LOC100507178_uc021omd.1_Intron	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	516					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AAGGTTGGTGGGATTTGAGGCA	0.554000														89			31		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47041163	47041163	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:47041163C>T	uc003cqp.3	+	25	3926	c.3747C>T	c.(3745-3747)tcC>tcT	p.S1249S	NBEAL2_uc010hjm.2_Intron|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1249	Leu-rich.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TACAGCTGTCCCTCCAGGCTG	0.612000														22			7		0	0	1	0	0
CCDC69	26112	broad.mit.edu	37	5	150578642	150578642	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:150578642C>T	uc003ltq.3	-	3	358	c.235G>A	c.(235-237)Gag>Aag	p.E79K	CCDC69_uc010jhu.3_5'UTR|CCDC69_uc011dcq.2_Non-coding_Transcript	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA.	79										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTCCTTCTCCACCTGGGGG	0.557000														106			23		0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55028767	55028767	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:55028767G>A	uc004dtz.3	+	2	401	c.325G>A	c.(325-327)Gat>Aat	p.D109N	APEX2_uc011mom.2_Intron	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.	109					DNA recombination|DNA repair|cell cycle	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CCAGAATGGGGATGTTGGTTG	0.552000								Other BER factors						85			25		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233990554	233990554	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:233990554C>T	uc010zmo.2	+	3	602	c.449C>T	c.(448-450)cCc>cTc	p.P150L	INPP5D_uc010zmp.2_Missense_Mutation_p.P149L	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	150					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AACGAGAATCCCCGAGCGACC	0.592000														31			9		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906800	42906800	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:42906800C>T	uc003cme.3	+	2	984	c.806C>T	c.(805-807)aCc>aTc	p.T269I	CCBP2_uc003cmf.3_Missense_Mutation_p.T269I|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.T269I	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	269					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TACAATCTCACCTTGTTTCTG	0.547000														158			28		0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944261	121944261	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:121944261G>A	uc003vkd.3	-	0	305	c.231C>T	c.(229-231)ttC>ttT	p.F77F	FEZF1_uc003vkc.3_Silent_p.F77F|LOC154860_uc010lko.2_Non-coding_Transcript	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	77					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CCACAGGCACGAAGGGGATCA	0.687000														43			62		0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31074856	31074856	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:31074856C>T	uc001wqk.2	+	10	1310	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	G2E3_uc010tpe.1_Intron|G2E3_uc010tpf.1_Missense_Mutation_p.P340S	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	386	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAACTTTAATCCTTCATATGC	0.308000														15			6		0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2843464	2843464	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:2843464C>T	uc002whe.3	+	12	1263	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Intron|VPS16_uc002whg.3_Silent_p.F91F	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	405					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCGCCTCCTTCGGAAAGTGTT	0.622000														180			44		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47280893	47280893	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:47280893G>A	uc001cqn.4	+	7	1114	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	CYP4B1_uc009vyl.1_Missense_Mutation_p.E180K|CYP4B1_uc001cqm.4_Missense_Mutation_p.E343K|CYP4B1_uc009vym.3_Missense_Mutation_p.E329K|CYP4B1_uc010omk.2_Missense_Mutation_p.E180K	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	343					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TCGTTGTAGAGAGGAGGTCCG	0.577000														39			4		0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188781	70188781	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:70188781G>A	uc002sfz.4	-	0	617	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	14					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TCACTCTGCAGAGCCTTTTTG	0.667000														150			45		0	0	1	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	G	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000														35			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640507	179640507	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:179640507C>T	uc021vsy.1	-	27	6309	c.6084G>A	c.(6082-6084)gaG>gaA	p.E2028E	TTN_uc021vsz.1_Silent_p.E1982E|TTN_uc021vta.1_Silent_p.E1982E|TTN_uc021vtb.1_Silent_p.E1982E|TTN_uc002unb.2_Silent_p.E2028E|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2028							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P2027H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGGAGTTCCTCATAGGATT	0.448000														86			32		0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36934795	36934795	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:36934795C>T	uc001caw.2	-	11	2122	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	CSF3R_uc001cav.2_Missense_Mutation_p.G513E|CSF3R_uc001cax.2_Missense_Mutation_p.G513E	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	513	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTGGGAGGGTCCCATGGTGTC	0.517000														31			10		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184622871	184622871	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:184622871G>A	uc003ivx.3	+	25	3075	c.2873G>A	c.(2872-2874)aGt>aAt	p.S958N	TRAPPC11_uc003ivw.3_Missense_Mutation_p.S958N|TRAPPC11_uc010isc.3_Missense_Mutation_p.S302N|TRAPPC11_uc003ivy.3_Missense_Mutation_p.S564N	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	958																	ACTGGAGAGAGTGCTAGTGAA	0.373000														32			9		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49943973	49943973	+	Silent	SNP	A	G	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:49943973A>G	uc001ruh.1	+	9	2039	c.1779A>G	c.(1777-1779)gcA>gcG	p.A593A	KCNH3_uc010smj.1_Silent_p.A533A	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	593					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCCTGCGGGCACTGTCTCTGG	0.677000														42			11		0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10662725	10662725	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:10662725C>T	uc002mov.3	+	7	1170	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	ATG4D_uc010xlh.2_Silent_p.D287D|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_Silent_p.D17D|MIR1238_uc021uoy.1_5'Flank	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	350					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			cTGCAGATGACTTCCTGCTGT	0.632000														64			19		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214190	3214190	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:3214190C>T	uc002fvi.2	+	0	652	c.586C>T	c.(586-588)Cat>Tat	p.H196Y						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		CTCCAGTGTTCATCTCAATGG	0.537000														73			76		0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724354	38724354	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:38724354C>T	uc001wum.1	-	0	1221	c.874G>A	c.(874-876)Gga>Aga	p.G292R		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	292						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)		GTCGGCTGTCCTTCCCCACTG	0.667000														61			32		0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98645495	98645495	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:98645495G>A	uc003upu.2	-	10	1382	c.1042C>T	c.(1042-1044)Caa>Taa	p.Q348*	SMURF1_uc003upv.2_Nonsense_Mutation_p.Q322*|SMURF1_uc003upt.3_Nonsense_Mutation_p.Q322*	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.	348					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	I-SMAD binding|R-SMAD binding|activin binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TCCTTGAGTTGGCACTGGTGA	0.597000														74			146		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209108282	209108282	+	Silent	SNP	A	G	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:209108282A>G	uc002vcs.3	-	5	813	c.567T>C	c.(565-567)atT>atC	p.I189I	IDH1_uc002vct.3_Silent_p.I189I|IDH1_uc002vcu.3_Silent_p.I189I	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	189					2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CAAAATCTTCAATTGACTTAT	0.408000			Mis		gliobastoma									51			12		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57407444	57407444	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:57407444C>T	uc004dvc.3	+	6	1127	c.978C>T	c.(976-978)ctC>ctT	p.L326L		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	326						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ACCAAGATCTCATTATGACTC	0.313000										HNSCC(52;0.14)				45			26		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25465046	25465046	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:25465046C>T	uc001isj.3	+	0	757	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	LOC100128811_uc010qde.1_5'UTR	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	233						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GTGGAGGCCCCACTTACACCG	0.706000														7			6		0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78641677	78641677	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:78641677G>A	uc011ccd.2	-	11	1707	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S	CNOT6L_uc003hks.3_Missense_Mutation_p.P526S	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	526					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGGTCTGAAGGGATGTGAGGG	0.498000														107			20		0	0	1	0	0
STIP1	10963	broad.mit.edu	37	11	63970980	63970980	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:63970980C>T	uc001nyk.1	+	12	1592	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L	STIP1_uc010rnb.1_Missense_Mutation_p.P458L	NM_006819	NP_006810	P31948	STIP1_HUMAN	Homo sapiens stress-induced-phosphoprotein 1 (STIP1), mRNA.	482					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CACGACAGCCCCGAAGATGTG	0.597000														31			7		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242007270	242007270	+	Silent	SNP	C	T	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:242007270C>T	uc002wah.1	+	21	3102	c.3102C>T	c.(3100-3102)acC>acT	p.T1034T	SNED1_uc002wai.1_Silent_p.T269T|SNED1_uc002waj.1_Silent_p.T121T|SNED1_uc002wak.3_Silent_p.T121T	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	1034	Fibronectin type-III 2.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCCATGCCACCGTCAGTGGGG	0.627000														27			12		0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446269	10446269	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:10446269G>A	uc003gmn.3	-	2	2171	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	ZNF518B_uc021xme.1_Missense_Mutation_p.P562S	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACTTTTACAGGAATATTGACT	0.423000														41			15		0	0	1	0	0
DERL1	79139	broad.mit.edu	37	8	124054285	124054285	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr8:124054285G>A	uc003ypl.2	-	0	364	c.78C>T	c.(76-78)ccC>ccT	p.P26P	DERL1_uc003ypm.2_Silent_p.P26P|DERL1_uc011lif.1_Silent_p.P26P|DERL1_uc003ypn.2_Silent_p.P26P	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	Homo sapiens Der1-like domain family, member 1 (DERL1), transcript variant 1, mRNA.	26					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TGCCGACCAAGGGCACGGCGA	0.622000														29			17		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821124	72821124	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:72821124T>A	uc002fck.3	-	9	11724	c.11051A>T	c.(11050-11052)gAc>gTc	p.D3684V	AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Missense_Mutation_p.D2770V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3684					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCAGCTGGGGTCTTTGGGACC	0.517000														218			59		0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703360	52703360	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:52703360G>A	uc001cto.3	+	3	443	c.271G>A	c.(271-273)Gga>Aga	p.G91R	ZFYVE9_uc001ctn.3_Missense_Mutation_p.G91R|ZFYVE9_uc001ctp.3_Missense_Mutation_p.G91R	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	91					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CTGTGCTAATGGACAGGACTG	0.428000														47			18		0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46443427	46443427	+	Silent	SNP	G	A	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:46443427G>A	uc002pdv.2	-	3	1221	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	Homo sapiens neuro-oncological ventral antigen 2 (NOVA2), mRNA.	391	Ala-rich.|Gly-rich.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGAAgcccccggccgccccgg	0.771000														57			22		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237060364	237060366	+	In_Frame_Del	DEL	CTT	-	-			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:237060364_237060366delCTT	uc001hyi.4	+	31	4080_4082	c.3657_3659delCTT	c.(3655-3660)tacttc>tac	p.F1220del	MTR_uc010pxw.2_In_Frame_Del_p.F813del|MTR_uc010pxx.2_In_Frame_Del_p.F1169del|MTR_uc010pxy.2_In_Frame_Del_p.F1074del	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	1220	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CAGGCCTCTACTTCTCCAATTTG	0.429													---	131	---	---	13	---					
TAF1B	9014	broad.mit.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:9989571delA	uc002qzz.3	+	2	287	c.187delA	c.(187-189)aaafs	p.K63fs	TAF1B_uc010exc.2_Frame_Shift_Del_p.K63fs|TAF1B_uc002qzy.4_Frame_Shift_Del_p.K63fs|TAF1B_uc010yja.2_5'UTR|TAF1B_uc010exd.3_5'UTR	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	63					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333													---	4	---	---	2	---					
CDKN2A	1029	broad.mit.edu	37	9	21971053	21971054	+	Frame_Shift_Ins	INS	-	C	C	rs137854598		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:21971053_21971054insC	uc003zpk.3	-	1	610_611	c.304_305insG	c.(304-306)gcgfs	p.A102fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Ins_p.A102fs|CDKN2A_uc003zpl.3_Frame_Shift_Ins_p.G116fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	102			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		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.?(44)|p.A102V(6)|p.A102E(4)|p.G101G(3)|p.A102A(2)|p.A102P(2)|p.G101fs*17(2)|p.T93_D105del(2)|p.G101W(2)|p.A102T(2)|p.H83fs*2(2)|p.A102fs*42(2)|p.A102fs*18(1)|p.0(1)|p.A68fs*3(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)		GTCCAGCCGCGCCCCGGCCCGG	0.752		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	37	---	---	11	---					
X97876	0	broad.mit.edu	37	9	66499823	66499824	+	Frame_Shift_Ins	INS	-	TC	TC			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:66499823_66499824insTC	uc004aee.1	+	0	633_634	c.633_634insTC	c.(631-636)tatacafs	p.Y211fs	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CCACCTTCTATACAGTTATGCG	0.599													---	77	---	---	8	---					
CYP2C19	1557	broad.mit.edu	37	10	96580325	96580325	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:96580325delG	uc010qnz.2	+	5	892	c.892delG	c.(892-894)gggfs	p.G298fs	CYP2C19_uc010qny.2_Frame_Shift_Del_p.G276fs	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	298					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)	ACTTGGAGCTGGGACAGAGAC	0.428													---	68	---	---	28	---