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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KSR1	8844	broad.mit.edu	37	17	25932772	25932772	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:25932772C>T	uc010crg.3	+	14	2024	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Missense_Mutation_p.R307W	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	663					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P527L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCGGCAGACGCGGCATGAGAA	0.597000													19	26					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245292	166245292	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:166245292C>A	uc002udc.3	+	26	5266	c.4976C>A	c.(4975-4977)gCg>gAg	p.A1659E	SCN2A_uc002udd.3_Missense_Mutation_p.A1659E|SCN2A_uc002ude.3_Missense_Mutation_p.A1659E|SCN2A_uc021vry.1_Missense_Mutation_p.A159E	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1659					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCCCTTCCTGCGTTGTTTAAC	0.493000													49	97					3.39706e-21	3.68014e-21	1	1	0
C11orf82	220042	broad.mit.edu	37	11	82643883	82643883	+	Silent	SNP	A	A	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:82643883A>T	uc001ozt.3	+	5	1747	c.1503A>T	c.(1501-1503)ggA>ggT	p.G501G	C11orf82_uc010rsr.2_Silent_p.G200G|C11orf82_uc010rss.2_Silent_p.G200G|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	501					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACTGTAAAGGAAATCTAAGTC	0.368000													17	23					0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129761996	129761996	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:129761996A>G	uc003vpj.2	+	4	868	c.733A>G	c.(733-735)Aca>Gca	p.T245A	KLHDC10_uc003vpk.2_Missense_Mutation_p.T216A|KLHDC10_uc010lmb.2_Missense_Mutation_p.T142A	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	Homo sapiens kelch domain containing 10 (KLHDC10), mRNA.	245										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CAGAGAGTGGACACAACTGAA	0.423000													62	49					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869694	22869694	+	Silent	SNP	C	C	T	rs150360634		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:22869694C>T	uc002zwe.3	-	1	514	c.261G>A	c.(259-261)tcG>tcA	p.S87S	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Silent_p.S87S	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGCAGGCTGCGACACGTGAG	0.468000													59	97					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Silent	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:140811099C>T	uc021xsg.1	-	1	2243	c.1491G>A	c.(1489-1491)caG>caA	p.Q497Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	497	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													4	60					0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60268575	60268575	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:60268575A>G	uc001npr.3	+	2	391	c.334A>G	c.(334-336)Ata>Gta	p.I112V	MS4A12_uc021qkb.1_Intron	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	112						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TTTGTGTTTAATATCCTTCTC	0.373000													9	165					0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	Missense_Mutation	SNP	C	C	T	rs111700178	by1000genomes	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:1593264C>T	uc010itg.1	-	1	273	c.196G>A	c.(196-198)Gca>Aca	p.A66T	SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		AGGGCACATGCCTGACCAAAG	0.557000													7	45					0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87938397	87938397	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr16:87938397C>T	uc002fkn.1	-	2	510	c.454G>A	c.(454-456)Gca>Aca	p.A152T		NM_001739	NP_001730	P35218	CAH5A_HUMAN	Homo sapiens carbonic anhydrase VA, mitochondrial (CA5A), nuclear gene encoding mitochondrial protein, mRNA.	152					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		CAAACCTCTGCGGGGTACGCG	0.577000													43	101					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519785	52519785	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr19:52519785G>A	uc002pyj.3	-	4	1468	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	ZNF614_uc002pyi.4_Intron|ZNF614_uc010epj.3_Missense_Mutation_p.R59C	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACAAGATAGCGCTTCATGGTG	0.428000													11	68					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42855353	42855353	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:42855353C>A	uc002ihh.3	+	23	2104	c.2104C>A	c.(2104-2106)Cca>Aca	p.P702T	ADAM11_uc010wjd.2_Missense_Mutation_p.P502T|ADAM11_uc002ihi.3_Missense_Mutation_p.S54R	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	702	EGF-like.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CATCTGTCAGCCAGACTGGAC	0.612000													5	287					0.0215528	0.0215528	1	1	0
BAHD1	22893	broad.mit.edu	37	15	40751367	40751367	+	Missense_Mutation	SNP	G	G	A	rs150307966		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr15:40751367G>A	uc001zlu.2	+	1	775	c.704G>A	c.(703-705)cGc>cAc	p.R235H	BAHD1_uc001zlt.2_Missense_Mutation_p.R235H|BAHD1_uc010bbp.1_Missense_Mutation_p.R235H|BAHD1_uc001zlv.2_Missense_Mutation_p.R235H	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	235					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GTAGATGGGCGCTCCACTGAG	0.627000													27	38					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281299	152281299	+	Silent	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:152281299G>A	uc001ezu.1	-	2	6099	c.6063C>T	c.(6061-6063)ggC>ggT	p.G2021G		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2021	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGCCCAATGCCTGAGTGTC	0.547000									Ichthyosis				25	1025					0	0	1	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	A	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000													6	60					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98797514	98797514	+	Silent	SNP	G	G	A	rs141130521	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr10:98797514G>A	uc001kmw.2	-	21	2559	c.2307C>T	c.(2305-2307)gaC>gaT	p.D769D	SLIT1_uc009xvh.1_Silent_p.D779D	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	769					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACTGGTTCCCGTCCAAATAGC	0.597000											OREG0020406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	26					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:29625892T>C	uc010ztl.1	+	1	78	c.46T>C	c.(46-48)Tat>Cat	p.Y16H	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.P15P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348000													4	110					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168093480	168093480	+	Silent	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:168093480G>A	uc010jjg.3	-	35	4992	c.4572C>T	c.(4570-4572)tgC>tgT	p.C1524C	SLIT3_uc003mab.3_Silent_p.C1517C	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1517					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGAGGCAGCCGCACTCTAAGT	0.627000													11	22					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17752258	17752258	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr19:17752258C>A	uc021uqk.1	-	20	2619	c.2577G>T	c.(2575-2577)gaG>gaT	p.E859D		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	860					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGTCCACAATCTCCTGGGCTG	0.567000													30	49					5.77227e-19	6.12568e-19	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:29091841G>A	uc003adu.1	-	10	1188	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adx.1_Silent_p.S151S	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	372	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(16)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	80					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100478361	100478361	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:100478361T>C	uc001tgq.3	-	9	1410	c.1181A>G	c.(1180-1182)cAt>cGt	p.H394R	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.H394R|UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.H44R	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	394										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTCAAATTCATGCAATAACTC	0.393000													29	56					0	0	1	0	0
LOC100125556	100125556	broad.mit.edu	37	3	125647387	125647387	+	RNA	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr3:125647387G>A	uc003eid.4	+	4		c.463G>A			LOC100125556_uc003eif.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member A pseudogene (LOC100125556), transcript variant 2, non-coding RNA.																		ACCAGAAACTGTTTCCCTATG	0.502000													5	176					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499680	66499680	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:66499680C>A	uc004aee.1	+	0	490	c.490C>A	c.(490-492)Ccc>Acc	p.P164T	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TCATGTTAACCCCTTCCCAGG	0.582000													8	57					0.000274275	0.000285246	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								36	46					0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150867793	150867793	+	Missense_Mutation	SNP	A	A	G	rs140057648		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:150867793A>G	uc003luc.3	+	10	1626	c.1409A>G	c.(1408-1410)aAt>aGt	p.N470S		NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	470					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	ATCTTCATCAATTCCACCTGT	0.567000													26	43					0	0	1	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32486344	32486344	+	Missense_Mutation	SNP	T	T	C	rs116408738	by1000genomes	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:32486344T>C	uc003obj.3	-	3	757	c.752A>G	c.(751-753)aAg>aGg	p.K251R	HLA-DRB5_uc003obk.4_Missense_Mutation_p.K251R	NM_002125	NP_002116	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 5 (HLA-DRB5), mRNA.	251					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TTTCTGATTCTTGAAGTAGAT	0.517000													3	35					0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24813443	24813443	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr8:24813443C>T	uc003xee.3	-	0	689	c.587G>A	c.(586-588)cGc>cAc	p.R196H		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	196	Coil 1B.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGCGCCTTTGCGCGCTTCCAT	0.647000													3	36					0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759050	94759050	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:94759050C>T	uc010ruf.1	+	0	629	c.329C>T	c.(328-330)cCg>cTg	p.P110L		NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D-like (KDM4DL), mRNA.	110					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TATCAGACTCCGCCACACCAG	0.468000													11	7					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56078504	56078504	+	Missense_Mutation	SNP	C	C	T	rs142170954	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:56078504C>T	uc010giw.1	-	9	1939	c.1828G>A	c.(1828-1830)Gcg>Acg	p.A610T	CTCFL_uc010gix.1_Missense_Mutation_p.A610T|CTCFL_uc002xym.2_Missense_Mutation_p.A610T|CTCFL_uc010gjb.1_Missense_Mutation_p.A610T|CTCFL_uc010gja.1_Missense_Mutation_p.A560T|CTCFL_uc010gjc.1_Missense_Mutation_p.A610T|CTCFL_uc010gjd.1_Missense_Mutation_p.A610T|CTCFL_uc010gje.3_Missense_Mutation_p.A610T|CTCFL_uc010gjg.3_Missense_Mutation_p.A342T|CTCFL_uc010gjf.3_Missense_Mutation_p.A405T|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Non-coding_Transcript	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	610					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCTCCGTTCGCGGCTTCCTTC	0.502000													4	151					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17083779	17083779	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:17083779G>A	uc010ock.2	-	14	2018	c.2018C>T	c.(2017-2019)aCg>aTg	p.T673M	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.T273M					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						AGAGACACGCGTGAAGACGGC	0.542000													4	32					0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90049110	90049110	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:90049110C>T	uc001dni.3	+	6	1408	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	LRRC8B_uc001dnh.3_Missense_Mutation_p.R301C|LRRC8B_uc001dnj.3_Missense_Mutation_p.R301C	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	301						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGGATATAAGCGCTACCAGTG	0.383000													49	30					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39774503	39774503	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr21:39774503G>A	uc010gnw.3	-	6	965	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	ERG_uc021wjd.1_Missense_Mutation_p.R224W|ERG_uc002yxa.3_Missense_Mutation_p.R217W|ERG_uc011aek.2_Missense_Mutation_p.R125W|ERG_uc010gnv.3_Missense_Mutation_p.R125W|ERG_uc010gnx.3_Missense_Mutation_p.R224W|ERG_uc011ael.2_Missense_Mutation_p.R224W|ERG_uc002yxb.3_Missense_Mutation_p.R224W|ERG_uc011aem.1_Intron|ERG_uc002yxc.4_Missense_Mutation_p.R224W|ERG_uc010gny.1_Intron	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	224					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TGCATTAACCGTGGAGAGTTT	0.438000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								12	36					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	80					0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593261	1593261	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:1593261A>T	uc010itg.1	-	1	276	c.199T>A	c.(199-201)Tgt>Agt	p.C67S	SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		CTCAGGGCACATGCCTGACCA	0.542000													7	47					0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29977327	29977327	+	Silent	SNP	T	T	C	rs143365191	by1000genomes	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:29977327T>C	uc021yty.1	+	4	373	c.355T>C	c.(355-357)Ttg>Ctg	p.L119L	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Silent_p.L116L					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		GACAGCTGCCTTGTGTGGGAC	0.438000													4	57					0	0	1	0	0
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308000													3	25					0	0	1	0	0
RCE1	9986	broad.mit.edu	37	11	66610961	66610961	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:66610961T>C	uc001ojk.1	+	0	79	c.35T>C	c.(34-36)cTg>cCg	p.L12P	C11orf80_uc021qmd.1_3'UTR|C11orf80_uc010rpl.2_3'UTR|C11orf80_uc001ojj.3_3'UTR|RCE1_uc001ojl.1_5'UTR	NM_005133	NP_001027450	Q9Y256	FACE2_HUMAN	Homo sapiens RCE1 homolog, prenyl protein protease (S. cerevisiae) (RCE1), transcript variant 1, mRNA.	12					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTGCGACTGCTGTCGGTGTCG	0.756000													3	1					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3841977	3841977	+	Splice_Site	SNP	A	A	G			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:3841977A>G	uc002wjw.4	+	4	465	c.293_splice	c.e4-2	p.R98_splice	MAVS_uc002wjx.4_Splice_Site|MAVS_uc002wjy.4_Intron	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	98					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TTTGTCCTCTAGGGACCTCGG	0.602000													48	86					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28210518	28210518	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr21:28210518T>A	uc002ymf.3	-	8	2739	c.2284A>T	c.(2284-2286)Agg>Tgg	p.R762W		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	762	Spacer.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCATTGTTCCTGGATCCCCTC	0.448000													22	27					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44180218	44180218	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:44180218A>C	uc001rnu.3	+	11	1335	c.1205A>C	c.(1204-1206)gAa>gCa	p.E402A	IRAK4_uc001rnt.3_Missense_Mutation_p.E402A|IRAK4_uc001rnx.3_Missense_Mutation_p.E278A|IRAK4_uc001rny.3_Missense_Mutation_p.E278A|IRAK4_uc010sky.1_Missense_Mutation_p.E278A|IRAK4_uc001rnv.3_Missense_Mutation_p.E278A|IRAK4_uc001rnw.3_Missense_Mutation_p.E278A	NM_001114182	NP_001138730	Q9NWZ3	IRAK4_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA.	402	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ATTAAAGAAGAAATTGAAGAT	0.249000													3	47					0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29857360	29857360	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:29857360G>A	uc021ytx.1	+	0	256	c.238G>A	c.(238-240)Gag>Aag	p.E80K	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Missense_Mutation_p.E80K|HLA-G_uc021ytv.1_3'UTR|HLA-G_uc010jro.3_3'UTR					Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.																		GGGTCTGCCCGAGCCCCTCAC	0.612000													5	96					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784381	82784381	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:82784381A>G	uc003uhx.2	-	1	1865	c.1576T>C	c.(1576-1578)Tca>Cca	p.S526P	PCLO_uc003uhv.2_Missense_Mutation_p.S526P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	472	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTTTGTTGAGCCAGGCTGT	0.567000													8	503					0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29977342	29977342	+	Missense_Mutation	SNP	A	A	T	rs116382006	by1000genomes	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:29977342A>T	uc021yty.1	+	4	388	c.370A>T	c.(370-372)Agg>Tgg	p.R124W	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Missense_Mutation_p.R121W					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		TGGGACTGAGAGGCAAGATTT	0.438000													4	56					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111866	64111866	+	Missense_Mutation	SNP	A	A	C	rs142814776		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:64111866A>C	uc001nzy.3	+	13	1902	c.1853A>C	c.(1852-1854)cAg>cCg	p.Q618P	CCDC88B_uc009ypo.2_Missense_Mutation_p.Q615P|CCDC88B_uc001nzz.1_Missense_Mutation_p.Q267P	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	618					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGCCCCGCAGTTGCTGGGA	0.647000													16	42					0	0	1	0	0
LOC100125556	100125556	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr3:125647396T>C	uc003eid.4	+	4		c.472T>C			LOC100125556_uc003eif.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member A pseudogene (LOC100125556), transcript variant 2, non-coding RNA.																		TGTTTCCCTATGAAGAGCACT	0.502000													5	171					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199470	86199470	+	Silent	SNP	C	C	T			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:86199470C>T	uc001taf.1	-	1	657	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	106	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	p.E106*(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTGGGCTGCTCATCTCCCC	0.448000													13	123					0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38379483	38379483	+	Silent	SNP	G	G	A			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:38379483G>A	uc003aun.1	-	1	587	c.309C>T	c.(307-309)caC>caT	p.H103H	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Silent_p.H103H|SOX10_uc010gxj.3_Silent_p.H103H|AK098727_uc003aup.3_5'Flank	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	103						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GCCGCTTGACGTGCGGCTTGC	0.662000													3	29					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43912030	43912033	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:43912030_43912033delCAAA	uc001cjk.2	+	63	8928_8931	c.6318_6321delCAAA	c.(6316-6321)gtcaaafs	p.V2106fs	SZT2_uc001cjl.2_Frame_Shift_Del_p.V94fs	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	3005						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTTCTGTGTCAAACAGTTTGCCC	0.559													36	24	---	---	---	---					
PI4KB	5298	broad.mit.edu	37	1	151265460	151265461	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:151265460_151265461delTT	uc001exr.3	-	12	2993_2994	c.2354_2355delAA	c.(2353-2355)aaafs	p.K785fs	PI4KB_uc001exs.3_Frame_Shift_Del_p.K758fs|PI4KB_uc001exu.3_Frame_Shift_Del_p.K758fs|PI4KB_uc010pcw.2_Frame_Shift_Del_p.K441fs|PI4KB_uc001ext.3_Frame_Shift_Del_p.K773fs	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	773					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGAACCTCTCTTTGAGGTTTCG	0.564													46	55	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201752572	201752577	+	In_Frame_Del	DEL	CCAATC	CCAATC	-	rs150728227		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:201752572_201752577delCCAATC	uc021phi.1	+	6	2743_2748	c.2396_2401delCCAATC	c.(2395-2403)gccaatctt>gtt	p.799_801ANL>V	NAV1_uc001gwu.3_In_Frame_Del_p.799_801ANL>V|NAV1_uc001gwv.1_In_Frame_Del_p.307_309ANL>V|NAV1_uc001gww.2_In_Frame_Del_p.408_410ANL>V|NAV1_uc001gwx.3_In_Frame_Del_p.408_410ANL>V|NAV1_uc001gwy.1_In_Frame_Del_p.180_182ANL>V	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	799					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCTCACTAGCCAATCTTGACAAGGT	0.456													9	508	---	---	---	---					
OR14A16	284532	broad.mit.edu	37	1	247978839	247978840	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:247978839_247978840delAT	uc001idm.1	-	0	192_193	c.192_193delAT	c.(190-195)ctatctfs	p.L64fs		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TCCAAGAAAGATAGATTCTTCA	0.421													29	45	---	---	---	---					
BRE	9577	broad.mit.edu	37	2	28550157	28550158	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:28550157_28550158delAG	uc002rls.3	+	11	1357_1358	c.1105_1106delAG	c.(1105-1107)agafs	p.R369fs	BRE_uc002rlp.1_Intron|BRE_uc002rlq.3_Intron|BRE_uc002rlr.3_Intron|BRE_uc002rlt.3_Intron|BRE_uc002rlu.3_Intron|BRE_uc002rlv.3_Intron	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	0					G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.R369K(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCAAGGGAGCAGAGATGCCTGC	0.609													57	135	---	---	---	---					
RAB3GAP1	22930	broad.mit.edu	37	2	135920344	135920346	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:135920344_135920346delAAG	uc010fnf.3	+	20	2456_2458	c.2413_2415delAAG	c.(2413-2415)aagdel	p.K806del	RAB3GAP1_uc002tuj.3_In_Frame_Del_p.K806del|RAB3GAP1_uc010fng.3_In_Frame_Del_p.K631del|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	806						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCTTCAGTTAAGAAGATCATAA	0.315													29	75	---	---	---	---					
SP3	6670	broad.mit.edu	37	2	174774916	174774917	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:174774916_174774917delAT	uc002uig.3	-	6	2629_2630	c.2098_2099delAT	c.(2098-2100)attfs	p.I700fs	SP3_uc002uie.3_Frame_Shift_Del_p.I632fs|SP3_uc002uif.3_Frame_Shift_Del_p.I647fs|SP3_uc010zel.2_Frame_Shift_Del_p.I697fs	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	700					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GTGTGTTTTAATATGTTTGGCA	0.376													42	54	---	---	---	---					
ZBTB20	26137	broad.mit.edu	37	3	114058229	114058231	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr3:114058229_114058231delAGG	uc003ebi.3	-	4	2027_2029	c.1847_1849delCCT	c.(1846-1851)tcctta>tta	p.S616del	ZBTB20_uc003ebj.3_In_Frame_Del_p.S543del|ZBTB20_uc010hqp.3_In_Frame_Del_p.S543del|ZBTB20_uc003ebk.3_In_Frame_Del_p.S543del|ZBTB20_uc003ebl.3_In_Frame_Del_p.S543del|ZBTB20_uc003ebm.3_In_Frame_Del_p.S543del|ZBTB20_uc003ebn.3_In_Frame_Del_p.S543del	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TAATCCTTTAAGGAGAAGGAGCG	0.507													26	51	---	---	---	---					
CCDC96	257236	broad.mit.edu	37	4	7044489	7044489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:7044489delT	uc003gjv.2	-	0	240	c.177delA	c.(175-177)ggafs	p.G59fs	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	59	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CGGCGGTGCCTCCCTGCGAAG	0.736													2	4	---	---	---	---					
GALNTL6	442117	broad.mit.edu	37	4	173961139	173961141	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:173961139_173961141delAGA	uc003isv.3	+	12	2430_2432	c.1694_1696delAGA	c.(1693-1698)gagaag>gag	p.K567del		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	567	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.K567delK(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AACCCCGCAGAGAAGAAGATTTT	0.424													25	61	---	---	---	---					
FNDC9	408263	broad.mit.edu	37	5	156770389	156770391	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:156770389_156770391delCTC	uc003lwu.2	-	1	342_344	c.154_156delGAG	c.(154-156)gagdel	p.E52del	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_In_Frame_Del_p.E52del	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	52	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GAGGCACCTTCTCCTCGTGGTGG	0.537													47	90	---	---	---	---					
EPB41L2	2037	broad.mit.edu	37	6	131277495	131277497	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:131277495_131277497delTCC	uc003qch.2	-	1	311_313	c.129_131delGGA	c.(127-132)gaggaa>gaa	p.43_44EE>E	EPB41L2_uc010kfl.2_In_Frame_Del_p.43_44EE>E|EPB41L2_uc003qcg.1_In_Frame_Del_p.43_44EE>E|EPB41L2_uc003qci.3_In_Frame_Del_p.43_44EE>E|EPB41L2_uc011eby.2_In_Frame_Del_p.43_44EE>E|EPB41L2_uc010kfk.2_In_Frame_Del_p.43_44EE>E	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	43					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGAACCTTTTTCCTCCTCTGGAT	0.483													36	85	---	---	---	---					
MLL5	55904	broad.mit.edu	37	7	104717788	104717789	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:104717788_104717789delAA	uc003vcm.3	+	10	1572_1573	c.1038_1039delAA	c.(1036-1041)gcaaaafs	p.A346fs	MLL5_uc010lja.1_Frame_Shift_Del_p.A200fs|MLL5_uc010ljb.1_Frame_Shift_Del_p.A346fs|MLL5_uc003vcl.3_Frame_Shift_Del_p.A346fs|MLL5_uc010ljc.3_Frame_Shift_Del_p.A346fs|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'UTR	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	346	SET.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TTAAATCTGCAAAAGATTTGCC	0.292													41	38	---	---	---	---					
FAM91A1	157769	broad.mit.edu	37	8	124789562	124789563	+	Splice_Site	DEL	TG	TG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr8:124789562_124789563delTG	uc003yqv.3	+	4	428	c.367_splice	c.e4+1	p.C123_splice	FAM91A1_uc011lik.1_Splice_Site_p.C123_splice|FAM91A1_uc011lil.2_Splice_Site	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	123										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGCTGCTGACTGTAAGTATTTA	0.302													17	53	---	---	---	---					
RUSC2	9853	broad.mit.edu	37	9	35560631	35560633	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:35560631_35560633delGAG	uc003zww.3	+	9	4249_4251	c.3994_3996delGAG	c.(3994-3996)gagdel	p.E1333del	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_In_Frame_Del_p.E1333del	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1333						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCCTGCCTCTGAGGAGGCCCTGG	0.700													10	15	---	---	---	---					
C9orf100	84904	broad.mit.edu	37	9	35663036	35663037	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:35663036_35663037delCT	uc003zxm.1	-	5	691_692	c.579_580delAG	c.(577-582)agagtcfs	p.R193fs	C9orf100_uc003zxl.3_Non-coding_Transcript	NM_032818	NP_116207	Q8N4T4	CI100_HUMAN	Homo sapiens chromosome 9 open reading frame 100 (C9orf100), mRNA.	193	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(1)	2	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATAGTATGGACTCTCTGGGCAG	0.530													51	71	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139397632	139397635	+	Splice_Site	DEL	ACTC	ACTC	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:139397632_139397635delACTC	uc004chz.3	-	27	5167	c.5167_splice	c.e27+1	p.S1723_splice	NOTCH1_uc004cia.1_Frame_Shift_Del_p.Q952fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1723					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.?(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCACACTTACTCTGCACGGCCT	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			19	73	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139413073	139413075	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:139413073_139413075delAGG	uc004chz.3	-	5	1067_1069	c.1067_1069delCCT	c.(1066-1071)tccttc>ttc	p.S356del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	356	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.S356del(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGCAGTAGAAGGAGGCCACACG	0.650			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			24	25	---	---	---	---					
KAT6B	23522	broad.mit.edu	37	10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr10:76784946_76784949delACAA	uc001jwn.1	+	16	4096_4099	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.R1201fs	KAT6B_uc001jwo.1_Frame_Shift_Del_p.R909fs|KAT6B_uc001jwp.1_Frame_Shift_Del_p.R1018fs	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1201					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GGAAGAAAAGACAAACAGAGGAAG	0.451													23	59	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	Splice_Site	DEL	GT	GT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:14276276_14276277delGT	uc001mle.3	+	9	1357	c.1089_splice	c.e9+1	p.E363_splice		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	364	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594													7	74	---	---	---	---					
FAM181B	220382	broad.mit.edu	37	11	82444076	82444078	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:82444076_82444078delGAA	uc001ozp.3	-	0	829_831	c.694_696delTTC	c.(694-696)ttcdel	p.F232del		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	Homo sapiens family with sequence similarity 181, member B (FAM181B), mRNA.	232	Gly-rich.									large_intestine(1)|lung(2)|prostate(1)	4						ACGGCTCCGTGAAGAAGGACGGA	0.754													8	10	---	---	---	---					
CLEC9A	283420	broad.mit.edu	37	12	10205309	10205321	+	Frame_Shift_Del	DEL	CCTCTCTTCAGTG	CCTCTCTTCAGTG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:10205309_10205321delCCTCTCTTCAGTG	uc001qxa.3	+	3	636_648	c.23_35delCCTCTCTTCAGTG	c.(22-36)acctctcttcagtggfs	p.T8fs		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	Homo sapiens C-type lectin domain family 9, member A (CLEC9A), mRNA.	8					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GAAATATACACCTCTCTTCAGTGGGATAGCCCA	0.441													11	54	---	---	---	---					
ALDH1L2	160428	broad.mit.edu	37	12	105464505	105464507	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:105464505_105464507delCTT	uc001tlc.3	-	2	396_398	c.269_271delAAG	c.(268-273)gaagtg>gtg	p.E90del	ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	90	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCTTCTGCCACTTCTTTGATGGT	0.463													20	86	---	---	---	---					
BRMS1L	84312	broad.mit.edu	37	14	36295747	36295749	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr14:36295747_36295749delAAG	uc001wtl.3	+	0	151_153	c.25_27delAAG	c.(25-27)aagdel	p.K10del	BRMS1L_uc010tpx.1_5'UTR	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	Homo sapiens breast cancer metastasis-suppressor 1-like (BRMS1L), mRNA.	10					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		CCGAGGGGATAAGAAGGAGACCA	0.631													11	9	---	---	---	---					
PIGW	284098	broad.mit.edu	37	17	34893506	34893508	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:34893506_34893508delAGG	uc002hmy.1	+	1	599_601	c.556_558delAGG	c.(556-558)aggdel	p.R188del	MYO19_uc010cuu.3_5'Flank|MYO19_uc010wcy.2_5'Flank|MYO19_uc002hmw.3_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_In_Frame_Del_p.R188del|PIGW_uc021tvq.1_In_Frame_Del_p.R188del	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class W (PIGW), mRNA.	188					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTAGAGGTCAGGAGGAGAAAAT	0.424													50	141	---	---	---	---					
SPECC1L	23384	broad.mit.edu	37	22	24718811	24718812	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:24718811_24718812delTT	uc002zzw.3	+	4	2166_2167	c.1863_1864delTT	c.(1861-1866)actttgfs	p.T621fs	SPECC1L_uc002zzv.4_Frame_Shift_Del_p.T621fs|SPECC1L_uc011ajq.2_Frame_Shift_Del_p.T621fs|SPECC1L_uc021wne.1_Non-coding_Transcript	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	621					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAGCAGAGACTTTGGCTAGTAG	0.416													50	103	---	---	---	---					
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45127647	45127649	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:45127647_45127649delCTT	uc003bfd.3	+	4	637_639	c.360_362delCTT	c.(358-363)gacttc>gac	p.F123del	PRR5-ARHGAP8_uc003bew.2_In_Frame_Del_p.F114del|PRR5-ARHGAP8_uc003bex.2_In_Frame_Del_p.F28del|PRR5-ARHGAP8_uc010gzt.1_In_Frame_Del_p.F146del|PRR5-ARHGAP8_uc003bey.1_In_Frame_Del_p.F114del|PRR5-ARHGAP8_uc003bez.1_In_Frame_Del_p.F28del|PRR5-ARHGAP8_uc011aqi.2_Intron|PRR5-ARHGAP8_uc011aqj.2_Intron|PRR5-ARHGAP8_uc003bfb.2_In_Frame_Del_p.F123del|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5-ARHGAP8_uc003bfh.1_In_Frame_Del_p.F22del	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						AGACCTGGGACTTCTTCTTCAGT	0.660													12	102	---	---	---	---					
BCOR	54880	broad.mit.edu	37	X	39934072	39934075	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chrX:39934072_39934075delTGTT	uc004den.4	-	3	816_819	c.524_527delAACA	c.(523-528)aaacagfs	p.K175fs	BCOR_uc004dep.4_Frame_Shift_Del_p.K175fs|BCOR_uc004deo.4_Frame_Shift_Del_p.K175fs|BCOR_uc004dem.4_Frame_Shift_Del_p.K175fs|BCOR_uc004deq.4_Frame_Shift_Del_p.K175fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	175					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAGAGGGCTCTGTTTGTCGCTGGC	0.539			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						7	80	---	---	---	---					
