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
GBP4	115361	broad.mit.edu	37	1	89655829	89655829	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:89655829C>T	uc001dnb.3	-	6	1205	c.1089G>A	c.(1087-1089)acG>acA	p.T363T		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	363						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCTCCTGGAGCGTGTCTGTGG	0.577												
NBPF10	400818	broad.mit.edu	37	1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:144825416G>T	uc009wig.1	+	17	2330	c.2136G>T	c.(2134-2136)tgG>tgT	p.W712C	NBPF10_uc010oxo.1_Missense_Mutation_p.W639C|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Missense_Mutation_p.W529C|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.W515C|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.W374C	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	714										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGGTAGATGGTATTCGACTC	0.498												
TCHH	7062	broad.mit.edu	37	1	152082760	152082760	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:152082760G>A	uc009wne.1	-	2	3205	c.2933C>T	c.(2932-2934)cCg>cTg	p.P978L	TCHH_uc001ezp.2_Missense_Mutation_p.P978L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	978	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tctcttctccggttcctctcc	0.557												
TOMM20	9804	broad.mit.edu	37	1	235291954	235291954	+	Missense_Mutation	SNP	C	C	T	rs1130507		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:235291954C>T	uc001hwl.3	-	0	303	c.77G>A	c.(76-78)cGc>cAc	p.R26H	SNORA14B_uc001hwm.1_5'Flank	NM_014765	NP_055580	Q15388	TOM20_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 20 homolog (yeast) (TOMM20), nuclear gene encoding mitochondrial protein, mRNA.	26					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TCGTCTTTTGCGGTCGAAGTA	0.597												
OR2M5	127059	broad.mit.edu	37	1	248308935	248308935	+	Silent	SNP	G	G	A	rs138472974	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:248308935G>A	uc010pze.2	+	0	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGCTGTAGCGACATTTTCCT	0.448												
OR2M3	127062	broad.mit.edu	37	1	248367072	248367072	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:248367072C>T	uc010pzg.2	+	0	703	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235H(2)|p.R235C(2)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGAGGGTCGTCGCAAAGCTTT	0.473												
DLG5	9231	broad.mit.edu	37	10	79581860	79581860	+	Splice_Site	SNP	C	C	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr10:79581860C>G	uc001jzk.3	-	15	2453	c.2383_splice	c.e15-1	p.V795_splice	DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Splice_Site|DLG5_uc001jzl.4_Splice_Site_p.V399_splice	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	795	PDZ 2.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GAGGGAATACCTAGGCAGGGA	0.512												
HSPA12A	259217	broad.mit.edu	37	10	118464692	118464692	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr10:118464692G>A	uc001lct.3	-	2	329	c.224C>T	c.(223-225)aCc>aTc	p.T75I	HSPA12A_uc001lcu.3_5'UTR	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	75							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CGGCTCCTTGGTGAAGCTGTA	0.582												
DNHD1	144132	broad.mit.edu	37	11	6589084	6589084	+	Nonsense_Mutation	SNP	T	T	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:6589084T>G	uc001mdw.4	+	35	12909	c.12345T>G	c.(12343-12345)taT>taG	p.Y4115*	DNHD1_uc001mea.4_Nonsense_Mutation_p.Y384*|DNHD1_uc001meb.3_Nonsense_Mutation_p.Y383*|DNHD1_uc001mec.3_Nonsense_Mutation_p.Y383*|DNHD1_uc010rao.2_Nonsense_Mutation_p.Y373*|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	4115					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGCCAAGTATCAGCAGGTTT	0.562												
OR5M1	390168	broad.mit.edu	37	11	56380101	56380101	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:56380101C>T	uc001nja.1	-	0	878	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ATCTGTGTTCCGTAGGCTATA	0.398												
OR5AR1	219493	broad.mit.edu	37	11	56431862	56431862	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:56431862G>A	uc010rjm.2	+	0	701	c.701G>A	c.(700-702)cGc>cAc	p.R234H	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCTGAAGGCCGCCTTAAGGCT	0.483												
SORL1	6653	broad.mit.edu	37	11	121444999	121444999	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:121444999G>A	uc001pxx.3	+	23	3516	c.3387G>A	c.(3385-3387)ggG>ggA	p.G1129G	SORL1_uc010rzp.1_5'Flank	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1129	LDL-receptor class A 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGGAGTCTGGGACTTGTATCC	0.453												
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:49087434_49087436delATG	uc001rsd.4	-	8	1884_1886	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del	CCNT1_uc009zkz.2_In_Frame_Del_p.H236del|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	521	His-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443												
PIP4K2C	79837	broad.mit.edu	37	12	57988971	57988971	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:57988971G>A	uc001sou.3	+	2	466	c.335G>A	c.(334-336)cGt>cAt	p.R112H	PIP4K2C_uc001sot.3_Missense_Mutation_p.R112H|PIP4K2C_uc010srs.2_Missense_Mutation_p.R94H|PIP4K2C_uc010srt.2_Missense_Mutation_p.R112H	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	112	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	p.L111L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGGAACCTCCGTGATCGATTT	0.443												
KCNC2	3747	broad.mit.edu	37	12	75441962	75441962	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:75441962G>A	uc001sxg.1	-	3	2295	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	KCNC2_uc009zry.3_Missense_Mutation_p.T584M|KCNC2_uc001sxe.3_Missense_Mutation_p.T584M|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	584					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGAAGCACACGTGTAATCACC	0.448												
SCYL2	55681	broad.mit.edu	37	12	100711649	100711649	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:100711649C>T	uc001thn.3	+	9	1391	c.1341C>T	c.(1339-1341)aaC>aaT	p.N447N	SCYL2_uc009ztw.1_Silent_p.N274N|SCYL2_uc001thm.1_Silent_p.N447N	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	447					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AGATAAAGAACAGTGTTCTAC	0.333												
KSR2	283455	broad.mit.edu	37	12	117977605	117977605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:117977605delG	uc001two.2	-	9	1574	c.1519delC	c.(1519-1521)ctcfs	p.L507fs		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAGGAGGGAGGGGGGGTGCT	0.632												
PIWIL1	9271	broad.mit.edu	37	12	130841563	130841563	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:130841563G>A	uc001uik.3	+	12	1776	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	PIWIL1_uc001uij.2_Missense_Mutation_p.R502Q	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	502					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATCTATACGCGAAGAAATTAT	0.348												
HEATR4	399671	broad.mit.edu	37	14	73974950	73974950	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr14:73974950C>T	uc021rwe.1	-	8	2117	c.1769G>A	c.(1768-1770)gGt>gAt	p.G590D	HEATR4_uc021rwf.1_Missense_Mutation_p.G543D|HEATR4_uc010tub.1_Missense_Mutation_p.G590D	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGTAGCAGTACCTTCCAGAGC	0.478												
B2M	567	broad.mit.edu	37	15	45007798	45007801	+	Frame_Shift_Del	DEL	TCTA	TCTA	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:45007798_45007801delTCTA	uc001zuc.3	+	1	305_308	c.245_248delTCTA	c.(244-249)ttctatfs	p.F82fs	B2M_uc010uek.1_Frame_Shift_Del_p.F82fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	82	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.F82V(1)|p.Y83*(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GACTGGTCTTTCTATCTCTTGTAC	0.436												
C15orf43	145645	broad.mit.edu	37	15	45249150	45249150	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:45249150G>C	uc001zuk.3	+	1	135	c.121G>C	c.(121-123)Gat>Cat	p.D41H		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	41										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GTTCAGCTGTGATGCCTCGCA	0.577												
CYP11A1	1583	broad.mit.edu	37	15	74637444	74637444	+	Missense_Mutation	SNP	G	G	A	rs121912811		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:74637444G>A	uc002axt.2	-	2	721	c.566C>T	c.(565-567)gCg>gTg	p.A189V	CYP11A1_uc002axs.2_Missense_Mutation_p.A31V|CYP11A1_uc010bjm.1_Missense_Mutation_p.A31V|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.3_Missense_Mutation_p.A189V	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	189			A -> V (in AICSR; no loss of activity).		C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCCGGAGCCCGCCTTCTTGAT	0.587												
DNM1P47	100216544	broad.mit.edu	37	15	102292811	102292811	+	Silent	SNP	C	C	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:102292811C>A	uc010usj.2	+	3	458	c.399C>A	c.(397-399)cgC>cgA	p.R133R	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.R133R(1)									CCTGCACTCGCGTGGGAACGA	0.607												
ZNF213	7760	broad.mit.edu	37	16	3187509	3187509	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:3187509C>T	uc010uws.2	+	1	675	c.228C>T	c.(226-228)ccC>ccT	p.P76P	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_Silent_p.P76P|ZNF213_uc010bth.3_Silent_p.P76P|ZNF213_uc010uwt.2_Silent_p.P76P	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	76	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GGCTGCGGCCCGAGCTGCGTA	0.662												
CLN3	1201	broad.mit.edu	37	16	28489096	28489096	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:28489096C>T	uc002dpo.3	-	13	1482	c.1159G>A	c.(1159-1161)Gca>Aca	p.A387T	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.A309T|CLN3_uc002dpm.3_Missense_Mutation_p.A333T|CLN3_uc010vcu.2_Missense_Mutation_p.A287T|CLN3_uc010vcv.2_Missense_Mutation_p.A363T|CLN3_uc002dpp.3_Missense_Mutation_p.A387T|CLN3_uc021tfs.1_Missense_Mutation_p.A234T|CLN3_uc002dpt.1_Missense_Mutation_p.A287T|CLN3_uc002dpq.1_Missense_Mutation_p.A339T|CLN3_uc010bye.1_Missense_Mutation_p.A370T|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.A260T|CLN3_uc002dpu.1_Missense_Mutation_p.A285T	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	387					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						ACGTAGGCTGCGCCTCCCAGG	0.612												
ORAI3	93129	broad.mit.edu	37	16	30960835	30960835	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:30960835C>T	uc002eac.3	+	0	431	c.225C>T	c.(223-225)gcC>gcT	p.A75A		NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 3 (ORAI3), mRNA.	75						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CGGGCTTCGCCATGGTGAGGG	0.692												
CHST5	23563	broad.mit.edu	37	16	75563755	75563755	+	Silent	SNP	C	C	T	rs77436937		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:75563755C>T	uc002fej.1	-	4	867	c.546G>A	c.(544-546)acG>acA	p.T182T	CHST5_uc002fei.3_Silent_p.T176T|CHST5_uc021tlk.1_Silent_p.T176T	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	176					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ATGGCTGCCGCGTGCACAGTG	0.667												
SLC13A5	284111	broad.mit.edu	37	17	6604344	6604344	+	Missense_Mutation	SNP	T	T	G	rs77405963		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:6604344T>G	uc002gdj.3	-	5	906	c.818A>C	c.(817-819)cAg>cCg	p.Q273P	SLC13A5_uc010clq.3_Missense_Mutation_p.Q230P|SLC13A5_uc002gdk.3_Missense_Mutation_p.Q256P|SLC13A5_uc010vtf.2_Missense_Mutation_p.Q273P|SLC13A5_uc002gdl.1_Missense_Mutation_p.Q255P	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	273						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GTAAACAAACTGGAGCCACAG	0.473												
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	rs67389650		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:7577127C>T	uc002gim.2	-	7	1005	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K|DL476366_uc021tpf.1_5'Flank|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.	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; 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.E271K(54)|p.E271*(34)|p.F270L(23)|p.F270C(16)|p.E271Q(9)|p.F270S(8)|p.0?(8)|p.F270V(7)|p.E271V(6)|p.F270Y(5)|p.F270I(4)|p.G266_E271delGRNSFE(4)|p.E271G(3)|p.E271D(3)|p.G262_F270delGNLLGRNSF(2)|p.E271_R273delEVR(2)|p.F270fs*72(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.S269_F270>I(2)|p.E271P(2)|p.E271del(2)|p.E271fs*34(2)|p.E271fs*35(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271fs*74(1)|p.S269_F270insX(1)|p.S269fs*21(1)|p.S269fs*34(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)		ACACGCACCTCAAAGCTGTTC	0.537		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)		
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	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)		
MYH13	8735	broad.mit.edu	37	17	10206539	10206539	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:10206539A>G	uc002gmk.1	-	38	5731	c.5641T>C	c.(5641-5643)Tct>Cct	p.S1881P		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1881					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTTGTAAGACTTCACTTTG	0.612												
CCDC144A	9720	broad.mit.edu	37	17	16593762	16593762	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:16593762G>A	uc002gqk.1	+	0	124	c.48G>A	c.(46-48)ccG>ccA	p.P16P		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	16								p.P16P(1)									AGGGGTCTCCGAAGCCGGCAG	0.672												
HELZ	9931	broad.mit.edu	37	17	65104714	65104714	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:65104714G>A	uc010wqk.2	-	29	4808	c.4621C>T	c.(4621-4623)Ctc>Ttc	p.L1541F	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.L1540F|HELZ_uc010der.3_Missense_Mutation_p.L84F	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGATGCTGGAGGTGAGGATGG	0.577												
DSG1	1828	broad.mit.edu	37	18	28934952	28934952	+	Silent	SNP	C	C	T	rs147922509	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr18:28934952C>T	uc002kwp.3	+	14	3005	c.2793C>T	c.(2791-2793)tcC>tcT	p.S931S	DSG1_uc010xbp.2_Silent_p.S290S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	931					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AACCAACTTCCGGCATGATAG	0.463												
STXBP2	6813	broad.mit.edu	37	19	7707328	7707328	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:7707328G>A	uc010xjr.2	+	9	886	c.841G>A	c.(841-843)Ggg>Agg	p.G281R	STXBP2_uc002mha.4_Missense_Mutation_p.G270R|STXBP2_uc002mhb.4_Missense_Mutation_p.G267R|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	270					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGAGACCACCGGGCTGAGCGA	0.632												
ATG4D	84971	broad.mit.edu	37	19	10659590	10659590	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:10659590G>A	uc002mov.3	+	5	966	c.846G>A	c.(844-846)gcG>gcA	p.A282A	ATG4D_uc010xlh.2_Silent_p.A219A|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_Intron	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	282					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTACAAGGCGGATGTGGCAC	0.647												
ZNF676	163223	broad.mit.edu	37	19	22363176	22363176	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:22363176G>T	uc002nqs.1	-	2	1661	c.1343C>A	c.(1342-1344)cCc>cAc	p.P448H		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGGGTTTCTCTCC	0.433												
GRIK5	2901	broad.mit.edu	37	19	42558502	42558502	+	Silent	SNP	G	G	A	rs140981334	by1000genomes	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:42558502G>A	uc002osj.1	-	7	1061	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	GRIK5_uc010eib.1_Silent_p.H261H	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	342						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GGCTGGTCCCGTGGGGCCAAA	0.652												
ZNF28	7576	broad.mit.edu	37	19	53303413	53303413	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:53303413C>T	uc002qad.3	-	3	1842	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	ZNF28_uc002qac.3_Missense_Mutation_p.R508H|ZNF28_uc010eqe.3_Missense_Mutation_p.R508H|ZNF28_uc021uza.1_Missense_Mutation_p.R509H	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.413												
CACNG8	59283	broad.mit.edu	37	19	54466519	54466519	+	Silent	SNP	T	T	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:54466519T>G	uc002qcs.2	+	0	230	c.123T>G	c.(121-123)acT>acG	p.T41T		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.	41					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CCATCAGCACTGACTACTGGC	0.711												
NLRP4	147945	broad.mit.edu	37	19	56370584	56370584	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:56370584G>A	uc002qmd.4	+	2	2247	c.1825G>A	c.(1825-1827)Gtc>Atc	p.V609I	NLRP4_uc002qmf.3_Missense_Mutation_p.V534I|NLRP4_uc010etf.3_Missense_Mutation_p.V440I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	609							ATP binding	p.V609F(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGTTCAAAATGTCTTTAAGAA	0.408												
PROC	5624	broad.mit.edu	37	2	128177527	128177527	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:128177527G>A	uc002tol.3	+	1	99	c.72G>A	c.(70-72)caG>caA	p.Q24Q	PROC_uc002tok.3_Silent_p.Q3Q|PROC_uc010yzi.2_Silent_p.Q24Q|PROC_uc010yzj.2_5'UTR|PROC_uc010yzk.2_Silent_p.Q24Q	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	3					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GAATGTGGCAGCTCACAAGCC	0.652												
SPEG	10290	broad.mit.edu	37	2	220349266	220349266	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:220349266G>A	uc010fwg.3	+	29	7081	c.7081G>A	c.(7081-7083)Ggc>Agc	p.G2361S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2361	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGAGGAGCGCGGCCCCTTCCG	0.731												
IQCA1	79781	broad.mit.edu	37	2	237374203	237374203	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:237374203C>T	uc002vwb.2	-	5	926	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	IQCA1_uc002vvz.1_Missense_Mutation_p.V291M|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.V291M	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	291							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTGATATCCACGCCTTCTATC	0.473												
DYNLRB1	83658	broad.mit.edu	37	20	33122583	33122583	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr20:33122583A>T	uc002xal.3	+	2	291	c.231A>T	c.(229-231)gaA>gaT	p.E77D	DYNLRB1_uc010zuk.2_Missense_Mutation_p.E77D	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.	77					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						AGAAAAATGAAATTATGGTTG	0.532												
C21orf91	54149	broad.mit.edu	37	21	19169012	19169012	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr21:19169012C>T	uc002yko.4	-	2	642	c.551G>A	c.(550-552)cGt>cAt	p.R184H	C21orf91_uc002ykq.4_Missense_Mutation_p.R184H|C21orf91_uc002ykp.4_Missense_Mutation_p.R184H	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN	Homo sapiens chromosome 21 open reading frame 91 (C21orf91), transcript variant 1, mRNA.	184										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TACACTGTTACGACATAAAGT	0.433												
WDR4	10785	broad.mit.edu	37	21	44296865	44296865	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr21:44296865G>A	uc002zci.3	-	1	175	c.102C>T	c.(100-102)agC>agT	p.S34S	WDR4_uc002zck.1_Silent_p.S34S|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Silent_p.S34S|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR	NM_033661	NP_387510	P57081	WDR4_HUMAN	Homo sapiens WD repeat domain 4 (WDR4), transcript variant 2, mRNA.	34					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		AGATGAAGAGGCTGTCATCAT	0.363												
RFPL3	10738	broad.mit.edu	37	22	32756314	32756314	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr22:32756314G>A	uc003amj.3	+	1	654	c.449G>A	c.(448-450)gGg>gAg	p.G150E	RFPL3_uc010gwn.3_Missense_Mutation_p.G121E|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	150	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GTCCGAAGTGGGCTCATCACA	0.542												
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:5248941delT	uc003bqi.3	+	6	1453	c.1321delT	c.(1321-1323)tttfs	p.F441fs	EDEM1_uc011asz.1_Frame_Shift_Del_p.F219fs|EDEM1_uc021wsl.1_Frame_Shift_Del_p.F246fs	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	441					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463												
CSPG5	10675	broad.mit.edu	37	3	47619240	47619240	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:47619240C>T	uc003crp.4	-	1	452	c.276G>A	c.(274-276)tcG>tcA	p.S92S	CSPG5_uc003crn.3_5'UTR|CSPG5_uc003cro.4_Silent_p.S92S|CSPG5_uc021wxh.1_Silent_p.S92S|CSPG5_uc021wxi.1_5'UTR|CSPG5_uc011bbb.2_5'UTR	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	92					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCACCGCAGCCGACTCCTGCA	0.726												
OR5K1	26339	broad.mit.edu	37	3	98188663	98188663	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:98188663G>A	uc003dsm.3	+	0	243	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCCCAAAATGTTAGAGAACT	0.413												
SLC15A2	6565	broad.mit.edu	37	3	121647354	121647354	+	Silent	SNP	G	G	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:121647354G>T	uc003eep.2	+	14	1446	c.1293G>T	c.(1291-1293)gtG>gtT	p.V431V	SLC15A2_uc011bjn.1_Silent_p.V400V	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	431					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGACAGTGGTGGGAAATGAAA	0.443												
COPB2	9276	broad.mit.edu	37	3	139098010	139098010	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:139098010G>A	uc003etf.4	-	3	364	c.234C>T	c.(232-234)gaC>gaT	p.D78D	COPB2_uc011bmv.2_Silent_p.D49D|COPB2_uc010hui.3_Silent_p.D49D|COPB2_uc011bmw.1_Silent_p.D78D	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	78					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TAATCTGCATGTCATCCTAGA	0.363												
BST1	683	broad.mit.edu	37	4	15717416	15717416	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:15717416C>G	uc003goh.4	+	5	893	c.698C>G	c.(697-699)cCc>cGc	p.P233R		NM_004334	NP_004325	Q10588	BST1_HUMAN	Homo sapiens bone marrow stromal cell antigen 1 (BST1), mRNA.	233					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						ATTGGGGGACCCAATGTGTAA	0.328												
AREG	374	broad.mit.edu	37	4	75312298	75312298	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:75312298C>T	uc021xpc.1	+	1	319	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	37					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			CTCTGGGAAGCGTGAACCATT	0.483												
ADH6	130	broad.mit.edu	37	4	100130080	100130080	+	Silent	SNP	A	A	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:100130080A>G	uc003huo.2	-	5	667	c.573T>C	c.(571-573)acT>acC	p.T191T	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Silent_p.T191T|ADH6_uc010ile.3_Silent_p.T191T	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	191					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TAGAACCTGGAGTCACCTAAA	0.458												
ITGA1	3672	broad.mit.edu	37	5	52183784	52183784	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr5:52183784G>A	uc003jou.3	+	7	1325	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	304	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AACATTCAACGGTTTTCCATA	0.388												
DSP	1832	broad.mit.edu	37	6	7569486	7569486	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:7569486C>T	uc003mxp.1	+	11	1766	c.1487C>T	c.(1486-1488)aCg>aTg	p.T496M	DSP_uc003mxq.1_Missense_Mutation_p.T496M|DSP_uc021yle.1_Missense_Mutation_p.T496M	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	496	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGTACGTGACGGGCCCGGGA	0.552												
COL11A2	1302	broad.mit.edu	37	6	33153497	33153497	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:33153497C>T	uc003ocx.1	-	5	1085	c.857G>A	c.(856-858)gGg>gAg	p.G286E	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	286	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGGGGTTGTCCCCGTAGTCAT	0.542												
ASCC3	10973	broad.mit.edu	37	6	101054729	101054729	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:101054729A>G	uc003pqk.3	-	31	5260	c.4931T>C	c.(4930-4932)aTt>aCt	p.I1644T		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1644	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GCTTGTAGCAATAAGAACCTA	0.294												
CITED2	10370	broad.mit.edu	37	6	139694947	139694947	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:139694947C>T	uc021zfz.1	-	1	225	c.135G>A	c.(133-135)caG>caA	p.Q45Q	CITED2_uc021zga.1_Silent_p.Q45Q|CITED2_uc003qip.1_Silent_p.Q45Q|CITED2_uc021zgb.1_Silent_p.Q45Q	NM_001168389	NP_006070	Q99967	CITE2_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 (CITED2), transcript variant 3, mRNA.	45	His-rich.				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TGAAGGCGTGCTGGGGCTGCT	0.662												
HOXA6	3203	broad.mit.edu	37	7	27185382	27185382	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:27185382G>C	uc003syo.2	-	1	622	c.597C>G	c.(595-597)atC>atG	p.I199M	HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						ACCAGATCTTGATCTGGCGCT	0.597												
NME8	51314	broad.mit.edu	37	7	37934142	37934142	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:37934142C>T	uc003tfn.3	+	15	1846	c.1474C>T	c.(1474-1476)Caa>Taa	p.Q492*		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	492	NDK 3.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AACTCCTGAGCAAATAGAGAA	0.303												
COBL	23242	broad.mit.edu	37	7	51096735	51096735	+	Silent	SNP	T	T	C			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:51096735T>C	uc003tps.3	-	10	2414	c.2229A>G	c.(2227-2229)acA>acG	p.T743T	COBL_uc003tpr.4_Silent_p.T686T|COBL_uc011kcl.2_Silent_p.T686T|COBL_uc003tpp.4_Silent_p.T472T|COBL_uc003tpq.4_Silent_p.T627T|COBL_uc003tpo.4_Silent_p.T228T	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	686										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGTGCCATGATGTTGGTGCCA	0.498												
POM121L12	285877	broad.mit.edu	37	7	53104084	53104084	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:53104084C>T	uc003tpz.3	+	0	736	c.720C>T	c.(718-720)ctC>ctT	p.L240L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	240								p.S239T(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGCCGAGCCTCGGCCCCTGGA	0.647												
EGFR	1956	broad.mit.edu	37	7	55233036	55233036	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:55233036C>T	uc003tqk.3	+	14	2032	c.1786C>T	c.(1786-1788)Ccg>Tcg	p.P596S	EGFR_uc003tqi.3_Missense_Mutation_p.P596S|EGFR_uc003tqj.3_Missense_Mutation_p.P596S|EGFR_uc022adm.1_Missense_Mutation_p.P596S|EGFR_uc010kzg.2_Missense_Mutation_p.P551S|EGFR_uc022adn.1_Missense_Mutation_p.P551S|EGFR_uc011kco.2_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					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.P596L(3)		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)	CAAGACCTGCCCGGCAGGAGT	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
CALN1	83698	broad.mit.edu	37	7	71571150	71571150	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:71571150C>T	uc003twb.4	-	3	765	c.374G>A	c.(373-375)cGc>cAc	p.R125H	CALN1_uc003twa.4_Missense_Mutation_p.R83H|CALN1_uc003twc.4_Missense_Mutation_p.R83H	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	83						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.W124C(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATGTCCAAGCGCTGCATGAT	0.587												
SLC26A5	375611	broad.mit.edu	37	7	103050930	103050930	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:103050930A>T	uc003vbz.3	-	6	899	c.637T>A	c.(637-639)Ttt>Att	p.F213I	SLC26A5_uc003vbt.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbu.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbv.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.F213I	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	213					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCGGTGGTAAACCCACGGACC	0.408												
COPG2	26958	broad.mit.edu	37	7	130297070	130297070	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:130297070T>C	uc003vqh.1	-	7	622	c.532A>G	c.(532-534)Atc>Gtc	p.I178V		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	178					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					GCTTCATTGATCCAGCGCTTA	0.353												
SH2D4A	63898	broad.mit.edu	37	8	19177081	19177081	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:19177081A>G	uc003wzc.3	+	1	331	c.23A>G	c.(22-24)gAg>gGg	p.E8G	SH2D4A_uc003wzb.3_Missense_Mutation_p.E8G|SH2D4A_uc011kym.2_Intron	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN	Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.	8						cytoplasm|nucleus	protein binding	p.S7L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		ATACTGTCGGAGATGTACATA	0.463												
PREX2	80243	broad.mit.edu	37	8	69030839	69030839	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:69030839C>A	uc003xxv.1	+	26	3408	c.3381C>A	c.(3379-3381)agC>agA	p.S1127R		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1127					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTGCAGCAGCCAGTGCAGCT	0.463												
CSMD3	114788	broad.mit.edu	37	8	113529374	113529374	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:113529374T>A	uc003ynu.3	-	27	4804	c.4645A>T	c.(4645-4647)Act>Tct	p.T1549S	CSMD3_uc003yns.3_Missense_Mutation_p.T821S|CSMD3_uc003ynt.3_Missense_Mutation_p.T1509S|CSMD3_uc011lhx.2_Missense_Mutation_p.T1445S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1549	Sushi 8.					integral to membrane|plasma membrane		p.D1548fs*19(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAACAACAGTGTCCCCAGGT	0.498										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
SAMD12	401474	broad.mit.edu	37	8	119391929	119391929	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:119391929C>T	uc003yom.2	-	3	462	c.333G>A	c.(331-333)ctG>ctA	p.L111L	SAMD12_uc010mda.1_Silent_p.L111L|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	111	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TAAGTCTCAGCAGGGCTCGCC	0.488												
COL22A1	169044	broad.mit.edu	37	8	139791753	139791753	+	Missense_Mutation	SNP	C	C	T	rs149163176	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:139791753C>T	uc003yvd.3	-	14	2151	c.1704_splice	c.e14+1	p.R568_splice		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	568	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AACACTCACCCGCATGCCGAC	0.592										HNSCC(7;0.00092)		
DMRT1	1761	broad.mit.edu	37	9	842164	842164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:842164delC	uc003zgv.3	+	0	475	c.326delC	c.(325-327)gccfs	p.A109fs	DMRT1_uc003zgu.1_Frame_Shift_Del_p.A109fs	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.	109					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AACCTGATCGCCGAGAGGCAG	0.592												
CNTNAP3	79937	broad.mit.edu	37	9	39078395	39078396	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:39078395_39078396delAG	uc004abi.3	-	22	3970_3971	c.3731_3732delCT	c.(3730-3732)tctfs	p.S1244fs	CNTNAP3_uc004abj.3_Frame_Shift_Del_p.S1163fs|CNTNAP3_uc011lqr.2_Non-coding_Transcript	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	1244					cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGATGACAGCAGAGTCTCTTCT	0.436												
OR1N1	138883	broad.mit.edu	37	9	125289116	125289116	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:125289116C>T	uc004bmn.1	-	0	457	c.457G>A	c.(457-459)Gtt>Att	p.V153I		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GTCAGGGCAACGATATTGGTG	0.537												
DBH	1621	broad.mit.edu	37	9	136508597	136508597	+	Silent	SNP	C	C	T	rs141816448		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:136508597C>T	uc004cel.3	+	3	816	c.807C>T	c.(805-807)tgC>tgT	p.C269C		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	269					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	p.C269C(2)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TCTTCCAGTGCGCCCCCGAGA	0.662												
WWC3	55841	broad.mit.edu	37	X	10096666	10096666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chrX:10096666G>T	uc004csx.4	+	16	2548	c.2350G>T	c.(2350-2352)Gag>Tag	p.E784*	WWC3_uc010nds.3_Nonsense_Mutation_p.E448*|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	784										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACTGGCCGAGGAGCGGGCCAA	0.662												
MSL3	10943	broad.mit.edu	37	X	11780954	11780957	+	Splice_Site	DEL	AGTT	AGTT	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chrX:11780954_11780957delAGTT	uc004cuw.3	+	7	694	c.589_splice	c.e7-1	p.L197_splice	MSL3_uc004cuv.1_Splice_Site_p.L197_splice|MSL3_uc011mig.2_Splice_Site_p.L48_splice|MSL3_uc011mih.2_Splice_Site_p.L185_splice|MSL3_uc004cuy.3_Splice_Site_p.L31_splice|MSL3_uc011mii.2_Splice_Site_p.L31_splice	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	197					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTTTGTTAACAGTTAGTGAAACTT	0.368