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
MEGF6	1953	broad.mit.edu	37	1	3407152	3407152	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:3407152C>T	uc001akl.3	-	37	4792	c.4565_splice	c.e37-1	p.A1522_splice	MEGF6_uc001akk.3_Splice_Site_p.A1210_splice	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	1522						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCAGTGTGCCCGCTGGGGAAA	0.672												
PER3	8863	broad.mit.edu	37	1	7845640	7845640	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:7845640G>A	uc001aop.3	+	1	492	c.268G>A	c.(268-270)Gtt>Att	p.V90I	PER3_uc009vmg.1_Missense_Mutation_p.V90I|PER3_uc009vmh.1_Missense_Mutation_p.V90I|PER3_uc001aoo.3_Missense_Mutation_p.V90I|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.V90I	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCACAGCGTTCAAGGTAA	0.483												
SLC2A7	155184	broad.mit.edu	37	1	9064868	9064868	+	Silent	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:9064868G>A	uc009vmo.1	-	10	1263	c.1263C>T	c.(1261-1263)gaC>gaT	p.D421D		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	421						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.D421D(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCACTGCCCCGTCCACCATGA	0.652												
CSF3R	1441	broad.mit.edu	37	1	36932400	36932400	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:36932400G>A	uc001caw.2	-	16	2653	c.2069C>T	c.(2068-2070)aCg>aTg	p.T690M	MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cav.2_Missense_Mutation_p.T690M|CSF3R_uc001cax.2_Missense_Mutation_p.T717M	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	690					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	p.T717M(1)		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)	GATGGGTGGCGTGCCAAGGCC	0.612												
DNALI1	7802	broad.mit.edu	37	1	38027710	38027710	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:38027710A>G	uc001cbj.3	+	4	681	c.671A>G	c.(670-672)gAc>gGc	p.D224G	DNALI1_uc010oie.2_Non-coding_Transcript	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	202					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAAAGAGAGACCTGGAGAGG	0.557											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM46C	54855	broad.mit.edu	37	1	118165644	118165644	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:118165644G>A	uc021osq.1	+	0	154	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	FAM46C_uc001ehe.3_Missense_Mutation_p.V52I	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	52								p.V52I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GAAGGACATCGTCCAGACCGT	0.567			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)		
ZNF697	90874	broad.mit.edu	37	1	120165750	120165750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:120165750C>A	uc001ehy.1	-	2	1330	c.1216G>T	c.(1216-1218)Gag>Tag	p.E406*		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TAGGGCTTCTCGCCCGTGTGC	0.672												
AQP10	89872	broad.mit.edu	37	1	154294529	154294529	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:154294529G>A	uc001feu.3	+	1	266	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	76					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGTGGTAACGTCTCAGGTGA	0.547												
TMEM79	84283	broad.mit.edu	37	1	156255048	156255048	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:156255048G>A	uc010phi.2	+	1	227	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	SMG5_uc001foc.4_5'Flank|TMEM79_uc001fod.3_5'UTR|TMEM79_uc009wrw.3_Missense_Mutation_p.E11K	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	11						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GGCCCTACTGGAAGTGAAGAG	0.597												
NR1I3	9970	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	by1000genomes	TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:161202999_161203000insG	uc001fzx.3	-	3	570_571	c.367_368insC	c.(367-369)cgcfs	p.R123fs	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzm.3_Frame_Shift_Ins_p.R48fs|NR1I3_uc001fzn.3_Intron|NR1I3_uc001fzf.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Intron|NR1I3_uc001fzq.3_Intron|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzw.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzz.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzh.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001gab.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001gac.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzp.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzg.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001gaa.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzj.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzi.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzl.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzk.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkm.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkn.1_Frame_Shift_Ins_p.R123fs	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	123					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564												
SVIL	6840	broad.mit.edu	37	10	29839816	29839816	+	Silent	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr10:29839816G>A	uc001iut.1	-	5	1290	c.537C>T	c.(535-537)gcC>gcT	p.A179A	SVIL_uc001iuu.1_Silent_p.A179A|SVIL_uc009xld.1_Silent_p.A179A	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	179					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGATTCACCGGCACAGGTCC	0.557												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
MUC5B	727897	broad.mit.edu	37	11	1251288	1251288	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:1251288G>A	uc001lta.3	+	10	1333	c.1274G>A	c.(1273-1275)tGc>tAc	p.C425Y	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Missense_Mutation_p.C425Y	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	425	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGCACCTGCTCTGTGCAG	0.652												
NAV2	89797	broad.mit.edu	37	11	20099593	20099593	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:20099593G>A	uc010rdm.2	+	25	5651	c.5290G>A	c.(5290-5292)Gca>Aca	p.A1764T	NAV2_uc001mpp.3_Missense_Mutation_p.A1644T|NAV2_uc001mpr.4_Missense_Mutation_p.A1708T|NAV2_uc021qew.1_Missense_Mutation_p.A1708T|NAV2_uc001mpt.2_Missense_Mutation_p.A757T|NAV2_uc009yhx.3_Missense_Mutation_p.A772T|NAV2_uc009yhy.1_Missense_Mutation_p.A670T|NAV2_uc009yhz.3_Missense_Mutation_p.A353T|NAV2_uc001mpu.3_Missense_Mutation_p.A146T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1764						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAACAGAACGCAGCTGCCCA	0.433												
NOX4	50507	broad.mit.edu	37	11	89073272	89073272	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:89073272A>C	uc001pct.3	-	14	1644	c.1405T>G	c.(1405-1407)Ttc>Gtc	p.F469V	NOX4_uc009yvr.3_Missense_Mutation_p.F444V|NOX4_uc001pcu.3_Missense_Mutation_p.F395V|NOX4_uc001pcw.3_Missense_Mutation_p.F162V|NOX4_uc001pcx.3_Missense_Mutation_p.F122V|NOX4_uc001pcv.3_Missense_Mutation_p.F429V|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Intron|NOX4_uc009yvp.3_Missense_Mutation_p.F233V|NOX4_uc010rtv.2_Missense_Mutation_p.F405V|NOX4_uc009yvq.3_Missense_Mutation_p.F445V	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	469	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	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|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)				AACCAACGGAAGGACTGGATA	0.328												
LOC642846	642846	broad.mit.edu	37	12	9447432	9447432	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr12:9447432C>G	uc010sgq.1	+	4	513	c.422C>G	c.(421-423)aCa>aGa	p.T141R	LOC642846_uc010sgp.1_Non-coding_Transcript|LOC642846_uc009zgn.1_5'UTR|LOC642846_uc001qvo.2_5'UTR					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.									p.T167R(1)									GAAGAAGAAACAGAGAATCTC	0.632												
LRP1	4035	broad.mit.edu	37	12	57581183	57581183	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr12:57581183C>T	uc001snd.3	+	41	7441	c.6975C>T	c.(6973-6975)gtC>gtT	p.V2325V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2325					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGAGACCGTCATCACTATGT	0.612												
PCDH17	27253	broad.mit.edu	37	13	58207302	58207303	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr13:58207302_58207303insA	uc001vhq.1	+	0	1514_1515	c.622_623insA	c.(622-624)cacfs	p.H208fs	PCDH17_uc010aec.1_Frame_Shift_Ins_p.H208fs	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	208	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCAACAGAATCACCATACGCTC	0.599												
MBIP	51562	broad.mit.edu	37	14	36789728	36789728	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr14:36789728G>T	uc001wtm.2	-	0	155	c.67C>A	c.(67-69)Ccc>Acc	p.P23T	MBIP_uc001wto.2_Missense_Mutation_p.P23T|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.P23T	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.	23					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GAGAGGTTGGGTCTGCATCTT	0.587												
FBN1	2200	broad.mit.edu	37	15	48787734	48787734	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:48787734C>T	uc001zwx.2	-	20	2866	c.2471G>A	c.(2470-2472)aGc>aAc	p.S824N		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	824	EGF-like 13; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGAGCCTGGGCTGTTCTTGCA	0.368												
AKAP13	11214	broad.mit.edu	37	15	86123972	86123972	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:86123972C>T	uc002blv.1	+	6	2843	c.2673C>T	c.(2671-2673)gaC>gaT	p.D891D	AKAP13_uc002blt.1_Silent_p.D891D|AKAP13_uc002blu.1_Silent_p.D891D|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	891					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAACACTGACTCTTCCCTGC	0.512												
FANCI	55215	broad.mit.edu	37	15	89859631	89859631	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:89859631A>G	uc010bnp.1	+	37	4018	c.3928A>G	c.(3928-3930)Act>Gct	p.T1310A	FANCI_uc002bnm.1_Missense_Mutation_p.T1250A|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Missense_Mutation_p.T1070A|FANCI_uc002bnq.1_Missense_Mutation_p.T723A|POLG_uc002bns.4_3'UTR|POLG_uc002bnr.4_3'UTR	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	1310					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTTCTAGGGCACTGCATCAGA	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
NPIPB7	440350	broad.mit.edu	37	16	29415043	29415043	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:29415043G>A	uc010vct.2	-	0					SNX29P2_uc010bys.1_Non-coding_Transcript					SubName: Full=Uncharacterized protein;									p.H27H(24)		lung(1)	1						CTGACTTTACGTGCTGCTGCA	0.577												
ITGAM	3684	broad.mit.edu	37	16	31308885	31308885	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:31308885C>T	uc002ebr.3	+	12	1505	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	ITGAM_uc002ebq.3_Silent_p.N469N|ITGAM_uc010cam.1_Missense_Mutation_p.R73W|ITGAM_uc010can.3_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	469					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGGACAGCAACGGCAGCACCG	0.637												
NOL3	8996	broad.mit.edu	37	16	67208778	67208778	+	Silent	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:67208778G>A	uc010vjd.2	+	2	733	c.540G>A	c.(538-540)caG>caA	p.Q180Q	NOL3_uc010vjc.2_Missense_Mutation_p.E184K|NOL3_uc002erp.3_Missense_Mutation_p.E184K	NM_001185057	NP_001171986	O60936	NOL3_HUMAN	Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.	180					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		agcagaaccagagccggaact	0.642												
KCTD19	146212	broad.mit.edu	37	16	67337179	67337179	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:67337179C>T	uc002esu.2	-	3	564	c.513G>A	c.(511-513)gaG>gaA	p.E171E	KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	171						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGTAGTGCACCTCCTCTTCTG	0.567												
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)		
THEG	51298	broad.mit.edu	37	19	367156	367156	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:367156C>T	uc002lol.3	-	6	865	c.822G>A	c.(820-822)ccG>ccA	p.P274P	THEG_uc002lom.3_Silent_p.P250P	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	274					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.K273T(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGGCCTTCGGCTTTGACA	0.572												
ELSPBP1	64100	broad.mit.edu	37	19	48511941	48511941	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:48511941G>C	uc002pht.3	+	1	195	c.17G>C	c.(16-18)aGt>aCt	p.S6T		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	6					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CGATGGTCCAGTTACCTGTTG	0.468												
TNNT1	7138	broad.mit.edu	37	19	55648471	55648471	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:55648471C>T	uc002qjb.4	-	11	700	c.611_splice	c.e11+1	p.R204_splice	TNNT1_uc002qjc.4_Splice_Site_p.R204_splice|TNNT1_uc002qje.4_Splice_Site_p.R193_splice|TNNT1_uc002qjd.4_Splice_Site_p.R193_splice	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	204					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CAGCACCTACCGGAGCTGTTC	0.622												
PEG3	5178	broad.mit.edu	37	19	57327999	57327999	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:57327999C>T	uc002qnu.2	-	6	2162	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R575H|PEG3_uc002qnv.2_Missense_Mutation_p.R604H|PEG3_uc002qnw.2_Missense_Mutation_p.R480H|PEG3_uc002qnx.2_Missense_Mutation_p.R478H|PEG3_uc010etr.2_Missense_Mutation_p.R604H	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	604					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R604H(2)|p.R604C(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)		GGTTTCCCCGCGCtcacgttc	0.458												
CD207	50489	broad.mit.edu	37	2	71060827	71060827	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:71060827C>T	uc002shg.3	-	2	562	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	172					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTGGAGTGCCCGGATCTTTGT	0.428												
TBC1D8	11138	broad.mit.edu	37	2	101655055	101655055	+	Silent	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:101655055G>T	uc010fiv.3	-	6	1229	c.1098C>A	c.(1096-1098)atC>atA	p.I366I	TBC1D8_uc010yvw.2_Silent_p.I381I|TBC1D8_uc002tau.4_Silent_p.I123I	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	366					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCTTGCTTCTGATACTGACAA	0.612												
LRP1B	53353	broad.mit.edu	37	2	141597647	141597647	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:141597647A>T	uc002tvj.1	-	30	6094	c.5122T>A	c.(5122-5124)Tac>Aac	p.Y1708N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1708					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCGGTCCAGTAGAGTTTTCTT	0.318										TSP Lung(27;0.18)		
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:29628300G>A	uc010ztl.1	+	2	244	c.212G>A	c.(211-213)aGt>aAt	p.S71N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358												
CHD6	84181	broad.mit.edu	37	20	40045338	40045338	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:40045338G>A	uc002xka.1	-	32	6554	c.6376C>T	c.(6376-6378)Ccc>Tcc	p.P2126S	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2126					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACCGGGGTGGGCAGTGTGCCT	0.572												
L3MBTL1	26013	broad.mit.edu	37	20	42163558	42163558	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:42163558delG	uc002xkn.1	+	8	939	c.808delG	c.(808-810)ggafs	p.G270fs	L3MBTL1_uc010zwh.2_Frame_Shift_Del_p.G579fs|L3MBTL1_uc002xkm.3_Frame_Shift_Del_p.G511fs|L3MBTL1_uc010ggl.3_Frame_Shift_Del_p.G511fs|L3MBTL1_uc002xkl.3_Frame_Shift_Del_p.G511fs|L3MBTL1_uc002xko.3_Frame_Shift_Del_p.G163fs	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	511					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTCCAAGACAGGACATCCCCT	0.557												
RTEL1	51750	broad.mit.edu	37	20	62326129	62326129	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:62326129G>T	uc021wge.1	+	30	3315	c.3145G>T	c.(3145-3147)Gtg>Ttg	p.V1049L	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.V1049L|RTEL1_uc011abd.2_Missense_Mutation_p.V1073L|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.V826L|RTEL1_uc002yfx.1_Missense_Mutation_p.V294L|TNFRSF6B_uc002yfy.3_5'UTR|TNFRSF6B_uc002yfz.3_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	1049					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GGGGTCTGGAGTGCCCAGAGC	0.687												
ARL8B	55207	broad.mit.edu	37	3	5214343	5214343	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:5214343A>G	uc003bqg.3	+	3	511	c.290A>G	c.(289-291)gAt>gGt	p.D97G	ARL8B_uc011asx.2_Missense_Mutation_p.D88G|ARL8B_uc011asy.2_Missense_Mutation_p.D97G	NM_018184	NP_060654	Q9NVJ2	ARL8B_HUMAN	Homo sapiens ADP-ribosylation factor-like 8B (ARL8B), mRNA.	97					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		TACATGATAGATGCTGCAGAT	0.323												
ITGA9	3680	broad.mit.edu	37	3	37547525	37547525	+	Silent	SNP	G	G	A	rs145062473		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:37547525G>A	uc003chd.3	+	6	830	c.777G>A	c.(775-777)ccG>ccA	p.P259P	ITGA9_uc003chc.3_Silent_p.P259P	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	259					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P259P(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCTCTCACCCGTCCACCATTG	0.537												
CELSR3	1951	broad.mit.edu	37	3	48679336	48679336	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:48679336T>G	uc003cuf.1	-	33	9066	c.9066A>C	c.(9064-9066)caA>caC	p.Q3022H	CELSR3_uc010hkf.3_Missense_Mutation_p.Q214H|CELSR3_uc010hkg.3_Missense_Mutation_p.Q907H|CELSR3_uc003cul.3_Missense_Mutation_p.Q2924H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2924					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGAGTGGCCGTTGGAAGCGCC	0.622												
MAGI1	9223	broad.mit.edu	37	3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:65376868G>T	uc003dmn.3	-	13	2891	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_uc003dmm.3_Missense_Mutation_p.P789T|MAGI1_uc003dmo.3_Missense_Mutation_p.P789T|MAGI1_uc003dmp.3_Missense_Mutation_p.P789T|MAGI1_uc010hnx.1_Missense_Mutation_p.P72T	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	789					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.P789T(3)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGGATCTGGTTTTTTCTGG	0.567												
HSPBAP1	79663	broad.mit.edu	37	3	122459902	122459902	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:122459902A>G	uc003efu.2	-	6	1023	c.884T>C	c.(883-885)cTg>cCg	p.L295P	HSPBAP1_uc003eft.2_Missense_Mutation_p.L6P	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	295						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TGCAGTTTTCAGGGCACACAC	0.458												
YEATS2	55689	broad.mit.edu	37	3	183454552	183454552	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:183454552G>A	uc003fly.2	+	7	1054	c.859G>A	c.(859-861)Gtc>Atc	p.V287I		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	287	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.P286P(1)		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)			TGAGTTTCCCGTCAGAGTTCA	0.418												
PDGFRA	5156	broad.mit.edu	37	4	55133562	55133562	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:55133562A>G	uc003han.4	+	5	1197	c.866A>G	c.(865-867)gAa>gGa	p.E289G	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E183G|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	289	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.E289K(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GGAGATTACGAATGTGCTGCC	0.468			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
KDR	3791	broad.mit.edu	37	4	55955634	55955634	+	Missense_Mutation	SNP	G	G	A	rs138424770		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:55955634G>A	uc003has.3	-	24	3613	c.3311C>T	c.(3310-3312)tCt>tTt	p.S1104F	KDR_uc003hat.1_Missense_Mutation_p.S1104F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1104	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGGATATGGAGAAGCACCTAG	0.393			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)		
KIAA1109	84162	broad.mit.edu	37	4	123107257	123107257	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:123107257C>T	uc003ieh.3	+	4	470	c.425C>T	c.(424-426)tCg>tTg	p.S142L	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	142					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TATAATCGCTCGGATCTTTAT	0.358												
ANKRD50	57182	broad.mit.edu	37	4	125593092	125593092	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:125593092A>G	uc010inw.3	-	3	2378	c.1340T>C	c.(1339-1341)tTa>tCa	p.L447S	ANKRD50_uc011cgo.2_Missense_Mutation_p.L268S	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	447										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAATGGTGTTAAATTCTTGGC	0.388												
SH3D19	152503	broad.mit.edu	37	4	152096196	152096196	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:152096196G>C	uc010ipl.1	-	6	1410	c.320C>G	c.(319-321)cCa>cGa	p.P107R	SH3D19_uc003imc.2_Missense_Mutation_p.P107R|SH3D19_uc003ime.2_Missense_Mutation_p.P107R|SH3D19_uc010ipm.2_Missense_Mutation_p.P107R	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	107	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GCCAGGGTTTGGTTTCTTTGG	0.537												
PCDHAC2	56146	broad.mit.edu	37	5	140176220	140176220	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:140176220C>T	uc003lhd.2	+	0	1777	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.D557D|PCDHAC2_uc011czy.2_Silent_p.D557D	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	571	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)			TCGTGCTGGACGAGAACGACA	0.687												
RBM27	54439	broad.mit.edu	37	5	145598558	145598558	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:145598558G>A	uc003lnz.4	+	1	236	c.70G>A	c.(70-72)Gat>Aat	p.D24N	RBM27_uc003lny.2_Missense_Mutation_p.D24N	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	24					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTGATGCTGATCCTTCAGC	0.333												
NDST1	3340	broad.mit.edu	37	5	149922522	149922522	+	Silent	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:149922522A>G	uc003lsk.4	+	9	2461	c.1959A>G	c.(1957-1959)aaA>aaG	p.K653K	NDST1_uc011dcj.2_Silent_p.K653K	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	653	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTATCACAAAGGCATCGACT	0.567												
POU5F1	5460	broad.mit.edu	37	6	31133413	31133413	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:31133413A>G	uc003nsv.3	-	2	646	c.592T>C	c.(592-594)Tgt>Cgt	p.C198R	POU5F1_uc003nsu.3_Missense_Mutation_p.C27R|POU5F1_uc021yuj.1_Missense_Mutation_p.C27R|POU5F1_uc011dnf.1_5'Flank	NM_002701	NP_002692	Q01860	PO5F1_HUMAN	Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA.	198	POU-specific.				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						CGCAGCTTACACATGTTCTTG	0.547			T	EWSR1	sarcoma							
NEU1	4758	broad.mit.edu	37	6	31829050	31829050	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:31829050T>C	uc003nxq.4	-	2	686	c.530A>G	c.(529-531)gAt>gGt	p.D177G		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	177						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	GGAAACACCATCATCCTTGCT	0.532												
HIVEP2	3097	broad.mit.edu	37	6	143074691	143074691	+	Silent	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:143074691A>G	uc003qjd.3	-	9	7637	c.6894T>C	c.(6892-6894)acT>acC	p.T2298T		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGAGGAGGGAGTGCTAGGTG	0.527												
T	6862	broad.mit.edu	37	6	166571992	166571992	+	Silent	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:166571992G>T	uc003qut.1	-	7	1408	c.1122C>A	c.(1120-1122)gcC>gcA	p.A374A	T_uc003quu.1_Silent_p.A373A|T_uc003quv.1_Silent_p.A315A	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	373					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGAAGAACTGGGCCCCCAGCC	0.692									Chordoma, Familial Clustering of			
MAGI2	9863	broad.mit.edu	37	7	77973153	77973153	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:77973153C>T	uc003ugx.3	-	8	1604	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	MAGI2_uc003ugy.3_Silent_p.L450L|MAGI2_uc010ldx.1_Silent_p.L59L|MAGI2_uc010ldy.1_Silent_p.L59L|MAGI2_uc011kgr.1_Silent_p.L282L|MAGI2_uc011kgs.1_Silent_p.L287L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	450	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTTCACCTGCAGAAACTCAT	0.453												
DNAJC2	27000	broad.mit.edu	37	7	102953526	102953526	+	Silent	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:102953526A>G	uc003vbo.3	-	15	1910	c.1659T>C	c.(1657-1659)ccT>ccC	p.P553P	PMPCB_uc003vbl.3_3'UTR|PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_Silent_p.P178P|DNAJC2_uc010lix.3_Silent_p.P500P|DNAJC2_uc003vbp.3_Silent_p.P178P	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	553	SANT 2.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTGTTGTCCAAGGGGTGAAGT	0.393												
RELN	5649	broad.mit.edu	37	7	103281043	103281043	+	Silent	SNP	C	C	T	rs146749232		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:103281043C>T	uc022ajr.1	-	16	2176	c.2016G>A	c.(2014-2016)ccG>ccA	p.P672P	RELN_uc022ajq.1_Silent_p.P672P|RELN_uc010liz.3_Silent_p.P672P	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	672	EGF-like 1.				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			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)		TGAGACATGACGGGCCAATAT	0.368												
CNOT4	4850	broad.mit.edu	37	7	135047676	135047676	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:135047676delG	uc011kpy.2	-	11	2434	c.2103delC	c.(2101-2103)cccfs	p.P701fs	CNOT4_uc011kpz.2_Frame_Shift_Del_p.P698fs|CNOT4_uc003vst.3_Frame_Shift_Del_p.P630fs|CNOT4_uc003vss.3_Frame_Shift_Del_p.P627fs	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.	370					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTAAATCTGTGGGGGTTTTGC	0.527												
CNOT4	4850	broad.mit.edu	37	7	135047681	135047681	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:135047681delT	uc011kpy.2	-	11	2429	c.2098delA	c.(2098-2100)accfs	p.T700fs	CNOT4_uc011kpz.2_Frame_Shift_Del_p.T697fs|CNOT4_uc003vst.3_Frame_Shift_Del_p.T629fs|CNOT4_uc003vss.3_Frame_Shift_Del_p.T626fs	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.	369					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TCTGTGGGGGTTTTGCTGGGG	0.527												
AGPAT6	137964	broad.mit.edu	37	8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr8:41456786G>A	uc003xnz.2	+	1	1067	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA.	43					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	p.R43H(4)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGTATCCGCAAACTCTAC	0.433												
EYA1	2138	broad.mit.edu	37	8	72127864	72127864	+	Missense_Mutation	SNP	G	G	A	rs139717960	byFrequency	TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr8:72127864G>A	uc003xyu.3	-	14	2100	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	EYA1_uc003xyt.4_Missense_Mutation_p.S454L|EYA1_uc003xyr.4_Missense_Mutation_p.S452L|EYA1_uc010lzf.3_Missense_Mutation_p.S414L|EYA1_uc003xys.4_Missense_Mutation_p.S487L|EYA1_uc011lfe.2_Missense_Mutation_p.S481L|EYA1_uc003xyv.3_Missense_Mutation_p.S365L	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	487			S -> P (in BOR1).		double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.S487L(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTGAATGAGCGAGAGTGCTTT	0.532												
FAM83H	286077	broad.mit.edu	37	8	144808129	144808129	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr8:144808129C>T	uc003yzk.3	-	4	3571	c.3502G>A	c.(3502-3504)Gtg>Atg	p.V1168M		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1168					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATCTTGGGCACGAACTTGCCC	0.647												
KIAA1432	57589	broad.mit.edu	37	9	5765489	5765489	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:5765489G>A	uc003zjl.4	+	18	2997	c.2806G>A	c.(2806-2808)Gac>Aac	p.D936N	KIAA1432_uc003zjh.3_Missense_Mutation_p.D894N|KIAA1432_uc003zji.3_Missense_Mutation_p.D894N|KIAA1432_uc003zjj.1_Missense_Mutation_p.D436N	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	973						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AGGCAAGTGGGACCTTTGTCG	0.448												
TESK1	7016	broad.mit.edu	37	9	35608190	35608190	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:35608190C>G	uc003zxa.3	+	7	1165	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	TESK1_uc010mks.3_Missense_Mutation_p.L117V	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	277	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTTCCGAACTCTGGTGGGGGA	0.597												
OR13C8	138802	broad.mit.edu	37	9	107332367	107332367	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:107332367G>T	uc011lvo.2	+	0	919	c.919G>T	c.(919-921)Gtc>Ttc	p.V307F		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAAGGCTGCTGTCAAAAACAT	0.373												
ASS1	445	broad.mit.edu	37	9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:133364801G>A	uc010mza.3	+	12	1656	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	ASS1_uc004bzm.3_Missense_Mutation_p.R307H|ASS1_uc004bzn.3_Missense_Mutation_p.R307H	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	307					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532												
MAGEB4	4115	broad.mit.edu	37	X	30260976	30260976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:30260976C>T	uc004dcb.3	+	0	920	c.724C>T	c.(724-726)Cga>Tga	p.R242*	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	242	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGGGGAACCCCGAAAGCTCAT	0.488												
TAB3	257397	broad.mit.edu	37	X	30872355	30872355	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:30872355C>T	uc004dcj.3	-	5	2090	c.1427G>A	c.(1426-1428)cGc>cAc	p.R476H	TAB3_uc004dck.3_Missense_Mutation_p.R476H|TAB3_uc010ngl.3_Missense_Mutation_p.R476H	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	476					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGCTGCAGAGCGCTCTTCTTG	0.443												
RGN	9104	broad.mit.edu	37	X	46951551	46951551	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:46951551C>G	uc004dgz.1	+	6	1755	c.786C>G	c.(784-786)tgC>tgG	p.C262W	RGN_uc004dha.1_Missense_Mutation_p.C262W|RGN_uc010nho.1_Missense_Mutation_p.C209W|RGN_uc010nhp.1_Missense_Mutation_p.C190W	NM_152869	NP_690608	Q15493	RGN_HUMAN	Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNA.	262					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						ATGTGACCTGCGCCCGGGATG	0.468												
USP11	8237	broad.mit.edu	37	X	47098522	47098522	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:47098522G>A	uc004dhp.3	+	1	359	c.359G>A	c.(358-360)gGg>gAg	p.G120E	USP11_uc004dhq.3_5'UTR	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	120	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GTGCAGGGAGGGGACCAGGAC	0.557												
KLF8	11279	broad.mit.edu	37	X	56291902	56291902	+	Missense_Mutation	SNP	C	C	A	rs143280924		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:56291902C>A	uc004dur.3	+	2	1317	c.371C>A	c.(370-372)aCg>aAg	p.T124K	KLF8_uc010nkg.2_Missense_Mutation_p.T119K|KLF8_uc011mop.2_Missense_Mutation_p.T124K|KLF8_uc010nkh.3_Non-coding_Transcript	NM_007250	NP_009181	O95600	KLF8_HUMAN	Homo sapiens Kruppel-like factor 8 (KLF8), transcript variant 1, mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T124T(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GTGGTGTCCACGTCAACATCT	0.542												
UBQLN2	29978	broad.mit.edu	37	X	56592046	56592046	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:56592046C>T	uc004dus.3	+	0	2021	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V	UBQLN2_uc011moq.1_Silent_p.V468V	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	Homo sapiens ubiquilin 2 (UBQLN2), mRNA.	580						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ATCCAGAAGTCAGATTTCAGC	0.512												
MTMR8	55613	broad.mit.edu	37	X	63445208	63445208	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:63445208G>A	uc011mou.2	-	9	1538	c.1448C>T	c.(1447-1449)aCg>aTg	p.T483M	MTMR8_uc004dvq.2_Missense_Mutation_p.T99M|MTMR8_uc004dvr.2_Missense_Mutation_p.T108M	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GAAAAGTGGCGTCTGTGCCTT	0.517												
KIF4A	24137	broad.mit.edu	37	X	69595167	69595167	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:69595167G>A	uc004dyg.3	+	16	2035	c.1892G>A	c.(1891-1893)cGt>cAt	p.R631H	KIF4A_uc010nkw.3_Missense_Mutation_p.R631H|KIF4A_uc004dyf.2_Missense_Mutation_p.R631H	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	631					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCCACAGAGCGTACTGTCTCC	0.423												
ATRX	546	broad.mit.edu	37	X	76937238	76937238	+	Silent	SNP	T	T	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:76937238T>C	uc004ecp.4	-	8	3742	c.3510A>G	c.(3508-3510)caA>caG	p.Q1170Q	ATRX_uc004ecq.4_Silent_p.Q1132Q|ATRX_uc004eco.4_Silent_p.Q955Q|ATRX_uc004ecr.2_Silent_p.Q1102Q|ATRX_uc010nlx.1_Silent_p.Q1141Q|ATRX_uc010nly.1_Silent_p.Q1115Q	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1170					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATGAAGTTCTTTGCTTCTTCT	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
GPR174	84636	broad.mit.edu	37	X	78427380	78427380	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:78427380C>T	uc004edg.1	+	0	912	c.876C>T	c.(874-876)taC>taT	p.Y292Y		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	292						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CAGTCATATACTACTTTTCCA	0.398										HNSCC(63;0.18)		
COL4A6	1288	broad.mit.edu	37	X	107412771	107412771	+	Silent	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:107412771G>A	uc004enw.4	-	36	3751	c.3648C>T	c.(3646-3648)atC>atT	p.I1216I	COL4A6_uc004env.4_Silent_p.I1215I|COL4A6_uc011msn.2_Silent_p.I1191I|COL4A6_uc010npk.3_Silent_p.I1191I	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1216	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						CTGGAGCTCCGATGCCAATTC	0.577									Alport syndrome with Diffuse Leiomyomatosis			
SLC9A6	10479	broad.mit.edu	37	X	135081058	135081058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:135081058C>T	uc004ezk.3	+	4	800	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	SLC9A6_uc011mvx.2_Nonsense_Mutation_p.Q190*|SLC9A6_uc004ezj.3_Nonsense_Mutation_p.Q210*	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	210					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.E241*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGTAACGGGACAACTTGCAGG	0.353												
PLXNB3	5365	broad.mit.edu	37	X	153033730	153033730	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:153033730C>T	uc010nuk.2	+	4	1453	c.1182C>T	c.(1180-1182)ggC>ggT	p.G394G	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.G53G|PLXNB3_uc004fii.2_Silent_p.G371G|PLXNB3_uc011mzd.1_Silent_p.G10G	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	371	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCCCTGTGGCGACGAGCACA	0.687