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
AGRN	375790	broad.mit.edu	37	1	978952	978952	+	Silent	SNP	C	C	T	rs142440782		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:978952C>T	uc001ack.2	+	8	1688	c.1638C>T	c.(1636-1638)tgC>tgT	p.C546C		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	546	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGCCCTGTGCGAGGCCGAGA	0.692												
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418												
GALE	2582	broad.mit.edu	37	1	24125491	24125491	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:24125491C>G	uc009vqo.1	-	1	217	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	GALE_uc001bhv.1_Missense_Mutation_p.E3Q|GALE_uc001bhx.1_Missense_Mutation_p.E3Q|GALE_uc001bhz.1_Intron|GALE_uc009vqq.1_Missense_Mutation_p.E3Q	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	3					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AGCACCTTCTCTGCCATGGCA	0.592												
USH2A	7399	broad.mit.edu	37	1	215933077	215933077	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:215933077C>T	uc001hku.1	-	56	11543	c.11156G>A	c.(11155-11157)cGt>cAt	p.R3719H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3719	Fibronectin type-III 22.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTCCATTACGACTCAATTG	0.408										HNSCC(13;0.011)		
OBSCN	84033	broad.mit.edu	37	1	228494689	228494689	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:228494689C>T	uc009xez.1	+	44	12058	c.12014C>T	c.(12013-12015)gCg>gTg	p.A4005V	OBSCN_uc001hsn.3_Missense_Mutation_p.A4005V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4005	Ig-like 41.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGAGCCGGGCGGGTGCGAGC	0.657												
RYR2	6262	broad.mit.edu	37	1	237813234	237813234	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:237813234G>A	uc001hyl.1	+	49	7690	c.7570G>A	c.(7570-7572)Gtc>Atc	p.V2524I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2524	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCACAGCCGTCTTGCCATT	0.463												
RAG1	5896	broad.mit.edu	37	11	36596275	36596275	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:36596275G>A	uc021qgb.1	+	0	1421	c.1421G>A	c.(1420-1422)cGt>cAt	p.R474H	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.R474H	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	474			R -> H (in OS/T(-)B(-)NK(+) SCID; atypical).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGGCCATCCGTGTCAACACC	0.557									Familial Hemophagocytic Lymphohistiocytosis			
GAB2	9846	broad.mit.edu	37	11	77937662	77937662	+	Silent	SNP	T	T	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:77937662T>G	uc001ozh.3	-	3	1158	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_uc001ozg.3_Silent_p.P314P	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	352					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582												
KCNJ5	3762	broad.mit.edu	37	11	128781583	128781583	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:128781583G>A	uc001qet.3	+	1	729	c.415G>A	c.(415-417)Gct>Act	p.A139T	KCNJ5_uc009zck.3_Missense_Mutation_p.A139T|KCNJ5_uc001qew.3_Missense_Mutation_p.A139T	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	139					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CTTCGTGTCCGCTTTCCTGTT	0.507												
NBEA	26960	broad.mit.edu	37	13	36202290	36202290	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr13:36202290G>A	uc021rid.1	+	48	8056	c.7522G>A	c.(7522-7524)Gga>Aga	p.G2508R	NBEA_uc021ric.1_Missense_Mutation_p.G2505R|NBEA_uc010abi.3_Missense_Mutation_p.G1164R|NBEA_uc010tee.1_Missense_Mutation_p.G301R|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.G301R|NBEA_uc010teg.1_Missense_Mutation_p.G301R|NBEA_uc001uvd.3_Missense_Mutation_p.G65R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2508	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAAGCAGCGAGGACCAGAAGC	0.438												
INF2	64423	broad.mit.edu	37	14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr14:105174270_105174271insG	uc001ypb.2	+	7	1809_1810	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_uc001ypc.2_Frame_Shift_Ins_p.R556fs|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	556	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663												
abParts	8755	broad.mit.edu	37	14	106770438	106770439	+	Splice_Site	INS	-	-	CT			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr14:106770438_106770439insCT	uc021ser.1	-											Parts of antibodies, mostly variable regions.																		CCTGGCCCAGCCTCTCTTGGCT	0.520												
HERC2P3	283755	broad.mit.edu	37	15	20657638	20657638	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr15:20657638G>A	uc001ytg.3	-	15	2340	c.1631C>T	c.(1630-1632)aCg>aTg	p.T544M	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.T544M|HERC2P3_uc010tyy.2_Missense_Mutation_p.T544M|HERC2P3_uc010tyz.1_3'UTR					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCGCAGTGCCGTCTGAGCGAG	0.502												
ZWILCH	55055	broad.mit.edu	37	15	66806421	66806421	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr15:66806421G>A	uc002aqb.3	+	3	447	c.201_splice	c.e3+1	p.V67_splice	RPL4_uc002apx.3_Intron|ZWILCH_uc010bhu.1_Intron|ZWILCH_uc002aqa.3_Splice_Site|ZWILCH_uc010bhv.3_Splice_Site	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA.	67					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TGGAAAAAGTGGTAAGTACTG	0.358												
YPEL3	83719	broad.mit.edu	37	16	30106203	30106203	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr16:30106203G>A	uc002dwl.3	-	2	1009	c.291C>T	c.(289-291)tgC>tgT	p.C97C	BOLA2_uc010bzb.1_Intron|TBX6_uc010veh.2_5'Flank|TBX6_uc002dwk.1_5'Flank|YPEL3_uc002dwm.3_Silent_p.C59C|YPEL3_uc002dwn.1_Silent_p.C97C|AK097453_uc002dwo.2_5'Flank	NM_031477	NP_001138996	P61236	YPEL3_HUMAN	Homo sapiens yippee-like 3 (Drosophila) (YPEL3), transcript variant 1, mRNA.	59						nucleolus				endometrium(1)|lung(2)	3						CGGCTGGCCCGCAGCCCACGT	0.632												
GPR114	221188	broad.mit.edu	37	16	57597817	57597817	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr16:57597817C>T	uc002ely.3	+	4	878	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	GPR114_uc002elx.4_Missense_Mutation_p.R119W|GPR114_uc010vhr.2_Missense_Mutation_p.R119W	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	119					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CGAGCTGACCCGGGACGCCTG	0.632												
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:7578265A>G	uc002gim.2	-	5	778	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_uc002gig.1_Missense_Mutation_p.I195T|TP53_uc002gih.3_Missense_Mutation_p.I195T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63T|TP53_uc010cnf.1_Missense_Mutation_p.I63T|TP53_uc002gii.1_Missense_Mutation_p.I63T|TP53_uc010cni.1_Missense_Mutation_p.I195T|TP53_uc010cnh.1_Missense_Mutation_p.I195T|TP53_uc002gij.2_Missense_Mutation_p.I195T|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102T|TP53_uc002gio.2_Missense_Mutation_p.I63T|TP53_uc010vug.2_Missense_Mutation_p.I156T|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(136)|p.L194R(37)|p.I195N(24)|p.L194F(18)|p.I195F(18)|p.I195S(16)|p.I195fs*14(9)|p.L194P(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.L194H(6)|p.?(5)|p.P191_E198>Q(4)|p.L194L(4)|p.I195fs*52(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I102T(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.L194I(1)|p.I195L(1)|p.I63fs*14(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)		TTCCACTCGGATAAGATGCTG	0.552		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)		
LIG3	3980	broad.mit.edu	37	17	33323604	33323604	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:33323604C>T	uc002hik.2	+	10	1884	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	LIG3_uc002hij.3_Silent_p.F585F	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	585					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AAGCAGCCTTCCAGGATGCTA	0.428								Other BER factors				
XYLT2	64132	broad.mit.edu	37	17	48437602	48437602	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:48437602G>A	uc002iqo.3	+	10	2657	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	850					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCTGTCCCCCGACCCCAAATC	0.647												
NOL11	25926	broad.mit.edu	37	17	65733682	65733682	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:65733682delC	uc002jgd.1	+	11	1280	c.1277delC	c.(1276-1278)acafs	p.T426fs	NOL11_uc010wql.1_Frame_Shift_Del_p.T244fs|NOL11_uc010deu.1_Frame_Shift_Del_p.T21fs	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	426						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGAAGCAGACACCTGACTTT	0.408												
CTAGE1	64693	broad.mit.edu	37	18	19997860	19997860	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:19997860G>A	uc002ktv.1	-	0						NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.							integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGGCTCCTCCGTAGCGCCAAG	0.587												
DCC	1630	broad.mit.edu	37	18	50734089	50734089	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:50734089T>C	uc002lfe.2	+	10	2379	c.1763T>C	c.(1762-1764)cTg>cCg	p.L588P	DCC_uc010xdr.1_Missense_Mutation_p.L436P|DCC_uc010dpf.2_Missense_Mutation_p.L243P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	588	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGGAAGGCCTGAAAAAATTC	0.383												
SALL3	27164	broad.mit.edu	37	18	76753975	76753975	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:76753975T>G	uc002lmt.3	+	1	1984	c.1984T>G	c.(1984-1986)Tcg>Gcg	p.S662A	SALL3_uc010dra.3_Missense_Mutation_p.S269A	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCGGAAACCTCGAAGCTGCA	0.637												
CCDC94	55702	broad.mit.edu	37	19	4268683	4268683	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:4268683G>A	uc002lzv.4	+	7	995	c.962G>A	c.(961-963)gGc>gAc	p.G321D		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	Homo sapiens coiled-coil domain containing 94 (CCDC94), mRNA.	321										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		GACAGCAACGGCAGCAACTGA	0.642												
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:12187394T>C	uc002mtb.2	+	3	1602	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_uc010dym.1_Missense_Mutation_p.F330L	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F487L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448												
CYP4F2	8529	broad.mit.edu	37	19	15989717	15989717	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:15989717G>A	uc002nbs.1	-	12	1477	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	CYP4F2_uc010xot.1_Missense_Mutation_p.A327V	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	476					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.A476V(2)|p.A476A(1)|p.M475K(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTTCATCTCCGCCATCGCGAA	0.672												
FFAR3	2865	broad.mit.edu	37	19	35850542	35850542	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:35850542C>T	uc002nzd.3	+	1	825	c.750C>T	c.(748-750)atC>atT	p.I250I	FFAR3_uc021usm.1_Silent_p.I250I	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	250						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			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)			TGGGCTATATCTGCGGTGAAA	0.612												
CYP2B6	1555	broad.mit.edu	37	19	41515926	41515926	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:41515926A>T	uc002opr.1	+	5	857	c.850A>T	c.(850-852)Agc>Tgc	p.S284C	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	284					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CAGTGAATTCAGCCACCAGAA	0.562												
FOXD4L1	200350	broad.mit.edu	37	2	114257073	114257073	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr2:114257073C>T	uc002tjw.4	+	0	413	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.	80					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GCGGCCCGAGCGACCCCTCAG	0.697												
SLC17A9	63910	broad.mit.edu	37	20	61596986	61596986	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr20:61596986G>A	uc002yea.4	+	9	1154	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	SLC17A9_uc002ydz.4_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	324					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.V324I(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCTCCAGCGTCTTTGCTCT	0.652												
EEF1A2	1917	broad.mit.edu	37	20	62122078	62122078	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr20:62122078C>T	uc002yfe.1	-	5	949	c.783G>A	c.(781-783)acG>acA	p.T261T		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	261						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCACGGGCACCGTGCCAATGC	0.647												
ADAMTS5	11096	broad.mit.edu	37	21	28338490	28338490	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr21:28338490A>C	uc002ymg.3	-	0	950	c.221T>G	c.(220-222)gTg>gGg	p.V74G		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	74					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GATGTTCTGCACCAGCCCCTT	0.726												
DSCR6	53820	broad.mit.edu	37	21	38380466	38380466	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr21:38380466G>A	uc002yvv.3	+	1	324	c.114G>A	c.(112-114)ccG>ccA	p.P38P	DSCR6_uc011aec.2_5'UTR|DSCR6_uc010gnd.3_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	38						nucleus		p.P38>?(1)		NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				GCCCCGCGCCGTGGCGACCTT	0.577												
SIK1	150094	broad.mit.edu	37	21	44841555	44841555	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr21:44841555G>T	uc002zdf.2	-	4	589	c.462C>A	c.(460-462)aaC>aaA	p.N154K		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	154	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.E153K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCAGCAGGAGGTTCTCGGTCT	0.617												
FANCD2	2177	broad.mit.edu	37	3	10084272	10084272	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:10084272G>A	uc003buw.3	+	10	891	c.813G>A	c.(811-813)tcG>tcA	p.S271S	FANCD2_uc003bux.1_Silent_p.S271S|FANCD2_uc003buy.1_Silent_p.S271S	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	271	Interaction with BRCA2.|Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.S271S(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATAAGTTGTCGTCTATTAGAT	0.373			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
PLS1	5357	broad.mit.edu	37	3	142405148	142405148	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:142405148T>G	uc010huv.3	+	8	1070	c.911T>G	c.(910-912)cTg>cGg	p.L304R	PLS1_uc003euz.3_Missense_Mutation_p.L304R|PLS1_uc003eva.3_Missense_Mutation_p.L304R	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	304	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TATTTTCATCTGCTTAATCAG	0.348												
CRYGS	1427	broad.mit.edu	37	3	186256595	186256595	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:186256595G>T	uc003fqe.3	-	2	479	c.427C>A	c.(427-429)Ccc>Acc	p.P143T		NM_017541	NP_060011	P22914	CRBS_HUMAN	Homo sapiens crystallin, gamma S (CRYGS), mRNA.	143	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		CGGTAGTTGGGTAGCTCATAG	0.547												
CCDC158	339965	broad.mit.edu	37	4	77252544	77252544	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:77252544C>T	uc003hkb.4	-	19	3036	c.2883G>A	c.(2881-2883)tcG>tcA	p.S961S		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	961	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTCCCTCAACGAGTTGTTGC	0.363												
HPSE	10855	broad.mit.edu	37	4	84223361	84223361	+	Missense_Mutation	SNP	C	C	T	rs138550346		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:84223361C>T	uc003hoj.4	-	9	1366	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M	HPSE_uc003hoi.3_Missense_Mutation_p.V365M|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.V166M|HPSE_uc003hok.4_Missense_Mutation_p.V423M|HPSE_uc011cct.2_Missense_Mutation_p.V349M	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	423					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GAACCTTGCACGCTTGCCATT	0.408												
ASB5	140458	broad.mit.edu	37	4	177136841	177136841	+	Silent	SNP	A	A	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:177136841A>G	uc003iuq.2	-	6	1014	c.900T>C	c.(898-900)tgT>tgC	p.C300C	ASB5_uc003iup.2_Silent_p.C247C	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	300	SOCS box.				intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGCTTCGGATACAGAGTCGGC	0.363												
PLEKHG4B	153478	broad.mit.edu	37	5	182428	182428	+	Missense_Mutation	SNP	G	G	A	rs111247576	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:182428G>A	uc003jak.2	+	17	3856	c.3806G>A	c.(3805-3807)cGc>cAc	p.R1269H		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1269					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGCCGCACACGCCAGGCCTGA	0.632												
IL31RA	133396	broad.mit.edu	37	5	55204208	55204208	+	Silent	SNP	C	C	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:55204208C>A	uc003jql.3	+	10	1662	c.1470C>A	c.(1468-1470)atC>atA	p.I490I	IL31RA_uc003jqk.3_Silent_p.I490I|IL31RA_uc011cqj.2_Silent_p.I348I|IL31RA_uc003jqm.3_Silent_p.I471I|IL31RA_uc003jqn.3_Silent_p.I490I|IL31RA_uc010iwa.1_Silent_p.I458I|IL31RA_uc021xyq.1_Silent_p.I471I|IL31RA_uc003jqo.3_Silent_p.I348I	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	458	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTACACCATCTTTTACCAAG	0.473												
HSD17B4	3295	broad.mit.edu	37	5	118810095	118810095	+	Splice_Site	SNP	G	G	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:118810095G>C	uc003ksj.3	+	4	354	c.221_splice	c.e4-1	p.D74_splice	HSD17B4_uc011cwh.2_Splice_Site_p.D56_splice|HSD17B4_uc011cwg.2_Splice_Site_p.D50_splice|HSD17B4_uc011cwi.2_Splice_Site_p.D99_splice|HSD17B4_uc003ksk.4_Splice_Site|HSD17B4_uc011cwj.2_5'Flank|HSD17B4_uc010jcn.2_5'Flank	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	74	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CTTTCCCTCAGATTCAGTGGA	0.428												
ADAMTS19	171019	broad.mit.edu	37	5	128796140	128796140	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:128796140A>C	uc003kvb.1	+	0	38	c.38A>C	c.(37-39)tAc>tCc	p.Y13S	ADAMTS19_uc003kvc.1_5'Flank	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	13					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCCTCCTTTACCAGCTGGGG	0.622												
PCDHAC2	56139	broad.mit.edu	37	5	140237348	140237348	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:140237348C>T	uc003lhx.2	+	0	1715	c.1715C>T	c.(1714-1716)gCg>gTg	p.A572V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.A572V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	586	Cadherin 5.				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)			GCTGGCAGCGCGGGCGGTGCA	0.682												
PCDHAC2	56135	broad.mit.edu	37	5	140307832	140307832	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:140307832T>C	uc003lih.2	+	0	1531	c.1355T>C	c.(1354-1356)cTt>cCt	p.L452P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.L452P	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	476	Cadherin 4.				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)			CAGCAGGAACTTTTCGTTGCT	0.527												
KIF4B	285643	broad.mit.edu	37	5	154395374	154395374	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:154395374G>A	uc010jih.1	+	0	2115	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	652					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R652H(3)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTAATGCGTCAAATGAAA	0.408												
TRIM52	84851	broad.mit.edu	37	5	180687305	180687305	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:180687305G>A	uc003mnp.3	-	0	815	c.510C>T	c.(508-510)caC>caT	p.H170H	BC016291_uc003mnq.3_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	Homo sapiens tripartite motif containing 52 (TRIM52), mRNA.	170						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		AAGGAGGCGGGTGGATGTCAG	0.537												
DNAH8	1769	broad.mit.edu	37	6	38885721	38885721	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:38885721C>A	uc021yzh.1	+	69	10438	c.10329C>A	c.(10327-10329)ttC>ttA	p.F3443L	DNAH8_uc003ooe.2_Missense_Mutation_p.F3226L|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAACAGGATTCCTGTGGAGCC	0.333												
RSPO3	84870	broad.mit.edu	37	6	127469869	127469869	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:127469869G>C	uc003qas.1	+	1	464	c.174G>C	c.(172-174)aaG>aaC	p.K58N	RSPO3_uc003qar.3_Missense_Mutation_p.K58N	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	58						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TGTCATGTAAGCCCAGACTAT	0.423												
QKI	9444	broad.mit.edu	37	6	163984752	163984755	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:163984752_163984755delGTAA	uc003qui.3	+	6	1485	c.934_splice	c.e6+1	p.G312_splice	QKI_uc003quj.3_Splice_Site_p.G304_splice|QKI_uc003quh.3_Splice_Site_p.E304_splice|QKI_uc003que.3_Frame_Shift_Del_p.G312fs|QKI_uc003quf.3_Splice_Site_p.E312_splice|QKI_uc003qug.3_Splice_Site_p.G312_splice	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	312					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GGTGTATTAGGTAAGTTCTTCTCC	0.387												
DNAH11	8701	broad.mit.edu	37	7	21639469	21639469	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:21639469T>C	uc003svc.3	+	14	2763	c.2732T>C	c.(2731-2733)aTt>aCt	p.I911T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	911	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTAGAATTCATTGACGACATT	0.373									Kartagener syndrome			
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:55210075T>G	uc003tqk.3	+	1	431	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_uc003tqh.3_Missense_Mutation_p.L62R|EGFR_uc003tqi.3_Missense_Mutation_p.L62R|EGFR_uc003tqj.3_Missense_Mutation_p.L62R|EGFR_uc022adm.1_Missense_Mutation_p.L62R|EGFR_uc010kzg.2_Missense_Mutation_p.L62R|EGFR_uc022adn.1_Missense_Mutation_p.L62R|EGFR_uc011kco.2_Missense_Mutation_p.L9R	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	62					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.L62R(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
JHDM1D	80853	broad.mit.edu	37	7	139790907	139790907	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:139790907C>T	uc003vvm.3	-	19	2817	c.2813G>A	c.(2812-2814)cGt>cAt	p.R938H	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	938					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CACAAAGAAACGTGCATGGCC	0.502												
MLL3	58508	broad.mit.edu	37	7	151849845	151849845	+	Silent	SNP	T	T	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:151849845T>C	uc003wla.3	-	48	12690	c.12471A>G	c.(12469-12471)ttA>ttG	p.L4157L	MLL3_uc003wkz.3_Silent_p.L3275L|MLL3_uc003wkx.3_Silent_p.L315L|MLL3_uc003wky.3_Silent_p.L1721L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4157					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAGAGCTCACTAATCTGGGAG	0.498			N		medulloblastoma							
RP1L1	94137	broad.mit.edu	37	8	10469370	10469370	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr8:10469370C>T	uc003wtc.3	-	3	2467	c.2238G>A	c.(2236-2238)tcG>tcA	p.S746S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	746					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AAACAAAATCCGAGTGGACTG	0.652												
NOV	4856	broad.mit.edu	37	8	120435276	120435276	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr8:120435276G>T	uc003yoq.2	+	4	1199	c.978G>T	c.(976-978)atG>atT	p.M326I		NM_002514	NP_002505	P48745	NOV_HUMAN	Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	326	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCCAGTGATGGTCATTGGGA	0.537												
DCAF8L2	347442	broad.mit.edu	37	X	27766165	27766165	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:27766165G>T	uc011mjy.2	+	0	1240	c.1153G>T	c.(1153-1155)Ggt>Tgt	p.G385C		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.									p.V384F(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATTTGCAGTGGGTGGACAAGA	0.398												
SYTL5	94122	broad.mit.edu	37	X	37931389	37931389	+	Missense_Mutation	SNP	G	G	A	rs151098113	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:37931389G>A	uc004ddx.3	+	2	775	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	SYTL5_uc004ddu.3_Missense_Mutation_p.R140Q|SYTL5_uc004ddv.3_Missense_Mutation_p.R140Q	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	140					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GATGTTGTCCGACAGTCCATT	0.378												
MAOA	4128	broad.mit.edu	37	X	43571152	43571152	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:43571152C>A	uc004dfy.3	+	3	521	c.340C>A	c.(340-342)Cca>Aca	p.P114T	MAOA_uc011mkw.2_5'UTR	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	114					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	CGCCTTTCCACCAGTATGGAA	0.368												
SLC38A5	92745	broad.mit.edu	37	X	48317931	48317931	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:48317931G>A	uc010nid.3	-	15	1486	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P	SLC38A5_uc004djk.4_Silent_p.P385P	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	436					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CCTGGATCTTGGGCCAGGATA	0.582												
TGIF2LX	90316	broad.mit.edu	37	X	89177186	89177186	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:89177186G>A	uc022bzr.1	+	0	102	c.102G>A	c.(100-102)tcG>tcA	p.S34S	TGIF2LX_uc004efe.3_Silent_p.S34S	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	34						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CAATCATGTCGAGAAATAACG	0.577												
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:149639325_149639327delCAG	uc011mxu.2	+	2	1715_1717	c.1405_1407delCAG	c.(1405-1407)cagdel	p.Q477del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q464del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q502del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q477del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q429del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	502					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532