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
SPHKAP	80309	broad.mit.edu	37	2	228860288	228860288	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:228860288G>A	ENST00000392056.3	-	8	4617	c.4571C>T	c.(4570-4572)gCc>gTc	p.A1524V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1524V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1524						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCCTCATTGGCAAGCTGGGT	0.572000													7	580					0	0	0.038147	0	0
MYADM	91663	broad.mit.edu	37	19	54377360	54377360	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:54377360G>T	ENST00000391769.2	+	3	857	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	MYADM_ENST00000391768.2_Missense_Mutation_p.D193Y|MYADM_ENST00000391770.4_Missense_Mutation_p.D193Y|MYADM_ENST00000391771.1_Missense_Mutation_p.D193Y|MYADM_ENST00000336967.3_Missense_Mutation_p.D193Y	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	193	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTTCATCAGCGACCCCAACCT	0.642000													8	425					0.0581538	0.0866955	0.058154	1	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													5	235					0	0	0.184627	0	0
PHGDH	26227	broad.mit.edu	37	1	120263916	120263916	+	Missense_Mutation	SNP	G	G	A	rs142988234		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:120263916G>A	ENST00000369407.3	+	1	1667	c.160G>A	c.(160-162)Gca>Aca	p.A54T	PHGDH_ENST00000369409.4_Missense_Mutation_p.A88T			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	88					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	TCTGGAGGCCGCAACAAGGAA	0.587000													5	371					0	0	0.217242	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs117285325	by1000genomes	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:78290635C>T	ENST00000409931.3	-	13	2778	c.2707G>A	c.(2707-2709)Gac>Aac	p.D903N	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	0						intracellular	protein binding|Rab GTPase activator activity	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617000													6	60					0	0	0.093190	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138199962	138199962	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:138199962C>T	ENST00000237289.4	+	7	1446	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	460	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.P450fs*21(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTCATTCGGCCCCACCGACAG	0.642000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								28	168					0	0	0.134883	0	0
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	Translation_Start_Site	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr3:75790798G>A	ENST00000478296.1	-	0	273				ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000477374.1_Silent_p.D49D			C9JSV9	C9JSV9_HUMAN	zinc finger protein 717						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502000													4	53					0	0	0.047766	0	0
KDELC2	143888	broad.mit.edu	37	11	108356954	108356954	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:108356954C>T	ENST00000434945.2	-	2	748	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	KDELC2_ENST00000375648.1_Missense_Mutation_p.R149Q|KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000323468.5_Missense_Mutation_p.R205Q			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	205						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TAAAGATCTCCGGTAAACATG	0.378000													69	319					0	0	0.139131	0	0
LIMK2	3985	broad.mit.edu	37	22	31658176	31658176	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr22:31658176G>A	ENST00000331728.4	+	6	722	c.608G>A	c.(607-609)cGc>cAc	p.R203H	LIMK2_ENST00000340552.4_Missense_Mutation_p.R182H|LIMK2_ENST00000333611.4_Missense_Mutation_p.R182H|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.R125H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	203	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCTGGGGACCGCATCCTGGAG	0.547000													5	458					0	0	0.184627	0	0
USH2A	7399	broad.mit.edu	37	1	216495296	216495296	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:216495296C>T	ENST00000366943.2	-	9	1959	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	USH2A_ENST00000366942.3_Missense_Mutation_p.D525N|USH2A_ENST00000307340.3_Missense_Mutation_p.D525N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	525	Laminin EGF-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCGCAGTTATCGGCATGACCA	0.443000										HNSCC(13;0.011)			43	342					0	0	0.139131	0	0
ESPL1	9700	broad.mit.edu	37	12	53681786	53681786	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:53681786G>A	ENST00000257934.4	+	19	4298	c.4207G>A	c.(4207-4209)Gac>Aac	p.D1403N	ESPL1_ENST00000552462.1_Missense_Mutation_p.D1403N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1403					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGACTTGGAAGACCCTGTCTC	0.582000											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	310					0	0	0.139131	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													6	339					0	0	0.217242	0	0
CCT3	7203	broad.mit.edu	37	1	156280946	156280946	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:156280946C>T	ENST00000295688.3	-	12	1476	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	CCT3_ENST00000472765.2_Missense_Mutation_p.R354H|CCT3_ENST00000368259.2_Missense_Mutation_p.R361H|CCT3_ENST00000368261.3_Missense_Mutation_p.R354H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	399					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GAGAACATTGCGACACACTTG	0.537000													40	341					0	0	0.098360	0	0
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:2837296T>C	ENST00000397885.2	-	3	394	c.188A>G	c.(187-189)aAg>aGg	p.K63R		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388000													5	771					0	0	0.184627	0	0
OR1J2	26740	broad.mit.edu	37	9	125273336	125273336	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:125273336C>T	ENST00000335302.5	+	1	256	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GATGGACATGCGGACTAAGTA	0.428000													6	526					0	0	0.217242	0	0
SERPINF2	5345	broad.mit.edu	37	17	1648635	1648635	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:1648635C>T	ENST00000324015.3	+	4	188	c.111C>T	c.(109-111)agC>agT	p.S37S	SERPINF2_ENST00000450523.2_Silent_p.S37S|SERPINF2_ENST00000382061.4_Silent_p.S37S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	37					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	AGCTAACTAGCGGGCCGAACC	0.657000													38	172					0	0	0.225048	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100191950	100191950	+	Silent	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr5:100191950C>A	ENST00000231461.5	-	4	964	c.654G>T	c.(652-654)ctG>ctT	p.L218L		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	218					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CACTGTCATTCAGCATGGAAA	0.398000													6	435					0.0293803	0.0463599	0.029380	1	0
MYEF2	50804	broad.mit.edu	37	15	48443700	48443700	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:48443700G>T	ENST00000324324.7	-	13	1555	c.1276C>A	c.(1276-1278)Caa>Aaa	p.Q426K	MYEF2_ENST00000267836.6_Missense_Mutation_p.Q426K	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	426	Gly-rich.		Q -> R (in dbSNP:rs2470103).		transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CCAAAGCCTTGATTTATTCCA	0.388000													9	1093					0.00829132	0.0137999	0.069234	1	0
ZNF709	163051	broad.mit.edu	37	19	12575380	12575380	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403000													6	724					0	0	0.217242	0	0
ZNF557	79230	broad.mit.edu	37	19	7083689	7083689	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:7083689C>T	ENST00000414706.1	+	8	1700	c.1227C>T	c.(1225-1227)tgC>tgT	p.C409C	ZNF557_ENST00000439035.2_Silent_p.C402C|ZNF557_ENST00000252840.6_Silent_p.C409C	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GTAATTATTGCGGGAAATCCT	0.368000													5	457					0	0	0.184627	0	0
STAB2	55576	broad.mit.edu	37	12	104147083	104147083	+	Silent	SNP	C	C	T	rs139125034		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:104147083C>T	ENST00000388887.2	+	61	6870	c.6666C>T	c.(6664-6666)aaC>aaT	p.N2222N	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2222	Link.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGTGCCAACGAAGCTGCGA	0.552000													48	187					0	0	0.131918	0	0
CES1P1	0	broad.mit.edu	37	16	55803970	55803970	+	RNA	SNP	A	A	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:55803970A>G	ENST00000571348.1	+	0	545					NR_003276.2																						GGTGGTGGTGACCATTCAATA	0.577000													50	69					0	0	0.139131	0	0
BEST1	7439	broad.mit.edu	37	11	61730184	61730184	+	Missense_Mutation	SNP	G	G	A	rs61747600		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:61730184G>A	ENST00000449131.2	+	9	1464	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	BEST1_ENST00000301774.9_Missense_Mutation_p.D148N|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000378042.3_Missense_Mutation_p.D433N|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000378043.4_Missense_Mutation_p.D520N	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	520					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTCAGAGAGCGATGGGGCCTT	0.468000													34	182					0	0	0.183431	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65219105	65219105	+	Silent	SNP	G	G	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:65219105G>C	ENST00000380230.3	+	6	506	c.477G>C	c.(475-477)ggG>ggC	p.G159G	AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000496660.1_Silent_p.G68G|ANKDD1A_ENST00000357698.3_Silent_p.G159G|ANKDD1A_ENST00000395723.1_Silent_p.G68G|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395720.1_Silent_p.G159G|ANKDD1A_ENST00000319580.8_3'UTR	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	159					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GCCAGCTGGGGAGGACGGCGT	0.622000													79	371					0	0	0.139131	0	0
DISP1	84976	broad.mit.edu	37	1	223176847	223176847	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:223176847G>T	ENST00000284476.6	+	8	2272	c.2108G>T	c.(2107-2109)cGa>cTa	p.R703L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	703					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GAAGCATCTCGAATTTTTTTC	0.418000													8	860					0.0381472	0.0586695	0.038147	1	0
POTEG	404785	broad.mit.edu	37	14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:19553823G>A	ENST00000409832.3	+	1	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	136								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577000													44	862					0	0	0.104719	0	0
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262							transcription factor binding	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517000													6	84					0	0	0.047766	0	0
FMO5	2330	broad.mit.edu	37	1	146672844	146672844	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:146672844G>A	ENST00000254090.4	-	7	1461	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L	FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.P358L	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	358						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CAGGTTAGGAGGGAAGACCTT	0.468000													11	477					0	0	0.069234	0	0
PTRF	284119	broad.mit.edu	37	17	40557270	40557270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:40557270G>T	ENST00000357037.5	-	2	1027	c.608C>A	c.(607-609)tCg>tAg	p.S203*		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	203					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CGCCTCGTCCGACGAAAGCTC	0.662000													6	654					0.0381472	0.0586695	0.038147	1	0
SLCO3A1	28232	broad.mit.edu	37	15	92690367	92690367	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:92690367C>T	ENST00000318445.6	+	8	1880	c.1666C>T	c.(1666-1668)Ccc>Tcc	p.P556S	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P556S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	556					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCACAGACACCCTCAGTCAT	0.582000													69	283					0	0	0.139131	0	0
RPTN	126638	broad.mit.edu	37	1	152128196	152128196	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:152128196C>T	ENST00000316073.3	-	3	1443	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	460	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATAGTGGGAACTCTGGCCTTG	0.512000													21	3600					0	0	0.038147	0	0
SKOR1	390598	broad.mit.edu	37	15	68119541	68119541	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:68119541A>T	ENST00000380035.2	+	2	1433	c.1375A>T	c.(1375-1377)Atg>Ttg	p.M459L	SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000389002.1_Missense_Mutation_p.M415L|SKOR1_ENST00000554240.1_Missense_Mutation_p.M420L|SKOR1_ENST00000554054.1_Missense_Mutation_p.M431L			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	459					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						cggcggcgccATGTTCTGGGG	0.781000													17	61					0	0	0.146539	0	0
DNM1P47	0	broad.mit.edu	37	15	102294648	102294648	+	RNA	SNP	T	T	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:102294648T>C	ENST00000561463.1	+	0	2694																											TTCTCAGAGCTGCTGTCCAAC	0.587000													6	147					0	0	0.093190	0	0
TBCB	1155	broad.mit.edu	37	19	36616597	36616597	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:36616597C>T	ENST00000221855.3	+	6	1223	c.648C>T	c.(646-648)tgC>tgT	p.C216C	TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Silent_p.C165C	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	216	CAP-Gly.				'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding	p.C216C(1)		large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACTTCGAATGCCAGGCCAAGT	0.562000													8	1059					0	0	0.029380	0	0
ZNF7	7553	broad.mit.edu	37	8	146067242	146067242	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:146067242C>T	ENST00000528372.1	+	5	990	c.750C>T	c.(748-750)taC>taT	p.Y250Y	ZNF7_ENST00000325241.6_Silent_p.Y250Y|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Silent_p.Y154Y|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Silent_p.Y261Y|ZNF7_ENST00000529819.1_3'UTR			P17097	ZNF7_HUMAN	zinc finger protein 7	250					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AGAAGCCGTACGAATGTGCAG	0.438000													81	328					0	0	0.139131	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													5	48					0	0	0.217242	0	0
PLRG1	5356	broad.mit.edu	37	4	155458483	155458483	+	Silent	SNP	A	A	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:155458483A>C	ENST00000499023.2	-	14	1566	c.1440T>G	c.(1438-1440)gcT>gcG	p.A480A	PLRG1_ENST00000393905.2_Silent_p.A480A|PLRG1_ENST00000302078.5_Silent_p.A471A	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	480						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TATCAGCTTCAGCTGTTAGTA	0.408000													52	265					0	0	0.139131	0	0
HRNR	388697	broad.mit.edu	37	1	152192788	152192788	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:152192788G>A	ENST00000368801.2	-	3	1392	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	439					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGGCCGGAGCTGGGAG	0.617000													6	593					0	0	0.217242	0	0
NDEL1	81565	broad.mit.edu	37	17	8370257	8370257	+	Missense_Mutation	SNP	C	C	T	rs138863036	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:8370257C>T	ENST00000380025.4	+	8	960	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000334527.7_Silent_p.N318N|NDEL1_ENST00000402554.3_3'UTR			Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	0	Interaction with CENPF.|Interaction with DISC1.|Interaction with NEFL (By similarity).|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT1.				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						GGGCAGTAAACGGCTTTGACC	0.537000													49	274					0	0	0.139131	0	0
FOXF1	2294	broad.mit.edu	37	16	86544628	86544628	+	Silent	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:86544628C>A	ENST00000262426.4	+	1	496	c.453C>A	c.(451-453)ctC>ctA	p.L151L		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	151					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GCCAGGCGCTCAAGCCCATGT	0.667000													6	435					0.00116845	0.0020137	0.217242	1	0
GPR179	440435	broad.mit.edu	37	17	36485562	36485562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:36485562G>T	ENST00000342292.4	-	11	3910	c.3890C>A	c.(3889-3891)tCa>tAa	p.S1297*		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1297						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TATGGGCTCTGATTTTCCCCG	0.582000													5	283					0.217242	0.299942	0.217242	1	0
ITGAV	3685	broad.mit.edu	37	2	187506230	187506230	+	Silent	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:187506230G>T	ENST00000261023.3	+	12	1348	c.1074G>T	c.(1072-1074)acG>acT	p.T358T	ITGAV_ENST00000433736.2_Silent_p.T312T|ITGAV_ENST00000374907.3_Silent_p.T322T|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	358					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACTTCCAGACGACAAAGCTGA	0.498000													7	816					0.0581538	0.0866955	0.058154	1	0
FRG1B	0	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr20:29625971C>A	ENST00000278882.3	+	5	595	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328000													8	528					2.32078e-09	4.1467e-09	0.132662	1	0
MYBPH	4608	broad.mit.edu	37	1	203138180	203138180	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:203138180C>T	ENST00000255416.4	-	9	1328	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	424	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TTTGGGGTTGCCCTGGATCTC	0.567000													75	555					0	0	0.139131	0	0
FOLH1B	219595	broad.mit.edu	37	11	89405142	89405142	+	RNA	SNP	C	C	T	rs3018757	by1000genomes	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:89405142C>T	ENST00000532352.1	+	0	1082							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTCATGAAACTGTGAGGAGC	0.433000													6	632					0	0	0.038147	0	0
FAM83H	286077	broad.mit.edu	37	8	144812372	144812372	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:144812372C>T	ENST00000388913.3	-	2	506	c.381G>A	c.(379-381)caG>caA	p.Q127Q		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	127					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGGCGGTGGCTGCACCAAGG	0.642000													38	126					0	0	0.235728	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619378	1619378	+	Missense_Mutation	SNP	G	G	A	rs138454470	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:1619378G>A	ENST00000412090.1	-	1	146	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	35						keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCCCCCACGGCCGGAGCCA	0.687000													7	317					0	0	0.038147	0	0
DICER1	23405	broad.mit.edu	37	14	95590833	95590833	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:95590833C>T	ENST00000526495.1	-	10	1367	c.1076G>A	c.(1075-1077)tGt>tAt	p.C359Y	DICER1_ENST00000343455.3_Missense_Mutation_p.C359Y|DICER1_ENST00000541352.1_Missense_Mutation_p.C359Y|DICER1_ENST00000393063.1_Missense_Mutation_p.C359Y|DICER1_ENST00000527414.1_Missense_Mutation_p.C359Y			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	359	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTGCTCTTCACATAGTGCATG	0.373000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				103	431					0	0	0.139131	0	0
USP20	0	broad.mit.edu	37	9	132623286	132623286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:132623286C>A	ENST00000315480.4	+	7	559	c.401C>A	c.(400-402)tCa>tAa	p.S134*	USP20_ENST00000372429.3_Nonsense_Mutation_p.S134*|USP20_ENST00000358355.1_Nonsense_Mutation_p.S134*			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	134					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GAGTCTGAGTCAGAGGACGAT	0.577000													7	594					0.00307968	0.00519696	0.038147	1	0
WHAMMP3	0	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													4	86					0	0	0.150653	0	0
PTPRK	5796	broad.mit.edu	37	6	128294292	128294292	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:128294292C>A	ENST00000368227.3	-	30	4561	c.4195G>T	c.(4195-4197)Ggg>Tgg	p.G1399W	PTPRK_ENST00000368207.3_Missense_Mutation_p.G1414W|PTPRK_ENST00000368215.3_Missense_Mutation_p.G1381W|PTPRK_ENST00000368210.3_Missense_Mutation_p.G1400W|PTPRK_ENST00000368226.4_Missense_Mutation_p.G1382W|PTPRK_ENST00000532331.1_Missense_Mutation_p.G1404W|PTPRK_ENST00000368213.5_Missense_Mutation_p.G1388W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1381	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCACTTCGCCCGCCACCATTT	0.428000													6	303					0.0381472	0.0586695	0.038147	1	0
LDHAL6B	92483	broad.mit.edu	37	15	59499545	59499545	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:59499545G>A	ENST00000307144.4	+	1	504	c.406G>A	c.(406-408)Gca>Aca	p.A136T	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	136					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	CTTTGTCACAGCAAACTCCAA	0.428000													6	615					0	0	0.217242	0	0
CEP89	84902	broad.mit.edu	37	19	33406284	33406284	+	Silent	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:33406284G>T	ENST00000305768.4	-	14	1612	c.1524C>A	c.(1522-1524)atC>atA	p.I508I		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	508						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTTCCACTGCGATTTTGCCAT	0.393000													6	607					0.0293803	0.0463599	0.029380	1	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													6	455					0	0	0.029380	0	0
CALML6	163688	broad.mit.edu	37	1	1848280	1848280	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:1848280G>A	ENST00000307786.3	+	4	797	c.343G>A	c.(343-345)Gca>Aca	p.A115T	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	115	EF-hand 3.					cytoplasm|nucleus	calcium ion binding	p.A115T(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGAGGGCGGCATTCCGTGT	0.597000													7	531					0	0	0.029380	0	0
D86994.2	0	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													5	27					0	0	0.184627	0	0
RNF40	9810	broad.mit.edu	37	16	30778186	30778186	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:30778186A>G	ENST00000324685.6	+	11	1853	c.1418A>G	c.(1417-1419)aAc>aGc	p.N473S	RNF40_ENST00000563683.1_Missense_Mutation_p.N433S|RNF40_ENST00000357890.5_Missense_Mutation_p.N373S|RNF40_ENST00000402121.3_Missense_Mutation_p.N165S	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	473					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGGCGGCCAACGAGCAGGCG	0.602000													14	96					0	0	0.132662	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													5	170					0	0	0.184627	0	0
DSCAML1	57453	broad.mit.edu	37	11	117387332	117387332	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:117387332G>A	ENST00000321322.6	-	8	1814	c.1813C>T	c.(1813-1815)Ctg>Ttg	p.L605L	DSCAML1_ENST00000527706.1_Silent_p.L335L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	545	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTGTCTGGCAGCAGCAGGGCA	0.582000													4	190					0	0	0.150653	0	0
BMS1	9790	broad.mit.edu	37	10	43318651	43318651	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:43318651A>G	ENST00000374518.4	+	20	3281	c.3218A>G	c.(3217-3219)aAa>aGa	p.K1073R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1073					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGATCAAGAAAGCACTCCGA	0.498000													7	351					0	0	0.093190	0	0
LINC00471	0	broad.mit.edu	37	2	232373630	232373630	+	RNA	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:232373630G>A	ENST00000313064.2	-	0	788					NR_024079.1																						aaaaaaaaaaggaaaaaGAAA	0.468000													5	42					0	0	0.184627	0	0
WAPAL	23063	broad.mit.edu	37	10	88260206	88260206	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:88260206T>G	ENST00000298767.5	-	3	1266	c.794A>C	c.(793-795)gAt>gCt	p.D265A		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	265	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AAAATCGTCATCCTTCATCTC	0.363000													81	256					0	0	0.139131	0	0
NEB	4703	broad.mit.edu	37	2	152466350	152466350	+	Silent	SNP	T	T	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:152466350T>C	ENST00000397345.3	-	81	12505	c.12303A>G	c.(12301-12303)gcA>gcG	p.A4101A	NEB_ENST00000409198.1_Silent_p.A3858A|NEB_ENST00000604864.1_Silent_p.A4101A|NEB_ENST00000603639.1_Silent_p.A4101A|NEB_ENST00000427231.2_Silent_p.A4101A|NEB_ENST00000172853.10_Silent_p.A3858A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4100					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGCCTTTTTTGCTTGGATAA	0.448000													116	504					0	0	0.139131	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751																											GACAGCTTGACACTTGCCATT	0.373000													8	296					0	0	0.080935	0	0
TNC	3371	broad.mit.edu	37	9	117846677	117846677	+	Missense_Mutation	SNP	G	G	A	rs149181557	by1000genomes	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:117846677G>A	ENST00000350763.4	-	4	2353	c.1942C>T	c.(1942-1944)Cgg>Tgg	p.R648W	TNC_ENST00000537320.1_Missense_Mutation_p.R648W|TNC_ENST00000535648.1_Missense_Mutation_p.R648W|TNC_ENST00000423613.2_Missense_Mutation_p.R648W|TNC_ENST00000346706.3_Missense_Mutation_p.R648W|TNC_ENST00000341037.4_Missense_Mutation_p.R648W|TNC_ENST00000345230.3_Missense_Mutation_p.R648W|TNC_ENST00000542877.1_Missense_Mutation_p.R648W|TNC_ENST00000340094.3_Missense_Mutation_p.R648W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	648	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCTGTGACCCGCATCTCATTG	0.562000													62	268					0	0	0.139131	0	0
BRD2	6046	broad.mit.edu	37	6	32945220	32945220	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:32945220G>A	ENST00000395289.2	+	8	2803	c.1200_splice	c.e8-1	p.R401_splice	BRD2_ENST00000395287.1_Splice_Site_p.R401_splice|BRD2_ENST00000443797.2_Splice_Site_p.R281_splice|BRD2_ENST00000374831.4_Splice_Site_p.R401_splice|BRD2_ENST00000449085.2_Splice_Site_p.R354_splice|BRD2_ENST00000374825.4_Splice_Site_p.R401_splice			P25440	BRD2_HUMAN	bromodomain containing 2	401	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTTCTGCAGCGGAAGATGGAG	0.527000													5	584					0	0	0.217242	0	0
ZNF181	339318	broad.mit.edu	37	19	35232318	35232318	+	Silent	SNP	T	T	G	rs2607243		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:35232318T>G	ENST00000392232.3	+	6	1332	c.1164T>G	c.(1162-1164)acT>acG	p.T388T	ZNF181_ENST00000459757.1_Silent_p.T343T|ZNF181_ENST00000492450.1_Silent_p.T344T			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAATTCATACTCAAGAAAAAC	0.388000													7	276					0	0	0.069234	0	0
F5	2153	broad.mit.edu	37	1	169510340	169510340	+	Missense_Mutation	SNP	G	G	T	rs113604388		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:169510340G>T	ENST00000367796.3	-	13	4204	c.4003C>A	c.(4003-4005)Ctt>Att	p.L1335I	F5_ENST00000367797.3_Missense_Mutation_p.L1330I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1330	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTAGAGAAAGGGTTGTATGG	0.527000													9	1456					0.00909568	0.0150357	0.150653	1	0
TTC13	79573	broad.mit.edu	37	1	231044752	231044752	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:231044752G>A	ENST00000366661.4	-	21	2331	c.2324C>T	c.(2323-2325)tCg>tTg	p.S775L	TTC13_ENST00000414259.1_Missense_Mutation_p.S722L|TTC13_ENST00000366662.4_Missense_Mutation_p.S721L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	775							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CACGATGACCGAGTAAGCAAT	0.423000													74	579					0	0	0.139131	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													5	356					0	0	0.184627	0	0
BRD1	23774	broad.mit.edu	37	22	50167946	50167946	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr22:50167946G>A	ENST00000216267.8	-	12	3598	c.3112C>T	c.(3112-3114)Cgc>Tgc	p.R1038C	BRD1_ENST00000342989.5_Missense_Mutation_p.R764C|BRD1_ENST00000404760.1_Missense_Mutation_p.R1169C|BRD1_ENST00000542442.1_Missense_Mutation_p.R726C|BRD1_ENST00000404034.1_Missense_Mutation_p.R1038C|BRD1_ENST00000457780.2_3'UTR	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	1038					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTCATGGCGCGGTCAAAAGCG	0.577000													7	884					0	0	0.029380	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:32725559C>T	ENST00000435145.2	-	4	809	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000													6	75					0	0	0.029380	0	0
SPTLC1	10558	broad.mit.edu	37	9	94812277	94812277	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:94812277G>T	ENST00000262554.2	-	9	858	c.853C>A	c.(853-855)Cat>Aat	p.H285N		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	285						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCTCGGCCATGCTCTCCTAGG	0.383000													6	639					0.0381472	0.0586695	0.038147	1	0
TXNDC2	0	broad.mit.edu	37	18	9887461	9887461	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr18:9887461A>C	ENST00000306084.6	+	2	1184	c.985A>C	c.(985-987)Atc>Ctc	p.I329L	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.I262L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	329	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGAGGGTGACATCCCCAAGTC	0.592000													6	415					0	0	0.029380	0	0
UBBP4	0	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547000													7	388					0	0	0.047766	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36288204	36288204	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:36288204G>T	ENST00000539424.1	+	2	1715	c.50G>T	c.(49-51)cGa>cTa	p.R17L	TBC1D3F_ENST00000327454.6_Missense_Mutation_p.R97L|TBC1D3F_ENST00000505415.1_Missense_Mutation_p.R97L|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.R97L			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	97						intracellular	Rab GTPase activator activity	p.R97Q(1)|p.R97L(1)		liver(1)|pancreas(1)	2						CTCATAGATCGAGCGTACAAG	0.547000													10	1633					0.00198382	0.00339484	0.029380	1	0
TEX37	200523	broad.mit.edu	37	2	88828905	88828905	+	Silent	SNP	A	A	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:88828905A>G	ENST00000303254.3	+	4	598	c.456A>G	c.(454-456)ctA>ctG	p.L152L		NM_152670.2	NP_689883.1			testis expressed 37																		GCTACCTGCTACTGCCAGGGT	0.552000													64	248					0	0	0.139131	0	0
EMC10	284361	broad.mit.edu	37	19	50981234	50981234	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:50981234C>T	ENST00000376918.3	+	2	209	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	EMC10_ENST00000334976.6_Silent_p.L55L|EMC10_ENST00000598585.1_Silent_p.L55L	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10																		GGTGGGGCTGCTGCTGGAGCA	0.602000													11	41					0	0	0.069234	0	0
CACNA1B	774	broad.mit.edu	37	9	140968501	140968501	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:140968501G>A	ENST00000277549.5	+	34	4991	c.2422G>A	c.(2422-2424)Gcc>Acc	p.A808T	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1615T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1613T|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1614T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1612T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1614T			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1614					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.A1614S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTTCATCTACGCCATCATCGG	0.622000													84	406					0	0	0.139131	0	0
INSRR	3645	broad.mit.edu	37	1	156812204	156812204	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:156812204G>A	ENST00000368195.3	-	18	3619	c.3223C>T	c.(3223-3225)Cgg>Tgg	p.R1075W	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1075	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTCAGGCCGCAAAGATCGA	0.602000													6	574					0	0	0.217242	0	0
NPAP1	23742	broad.mit.edu	37	15	24922535	24922535	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:24922535C>A	ENST00000329468.2	+	1	1995	c.1521C>A	c.(1519-1521)ttC>ttA	p.F507L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CACCCTCCTTCAAGCCTCCCG	0.537000													9	1110					0.150653	0.220535	0.150653	1	0
FOXD4	2298	broad.mit.edu	37	9	117739	117739	+	Silent	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:117739G>T	ENST00000382500.2	-	1	678	c.381C>A	c.(379-381)ctC>ctA	p.L127L		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	127					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGATGCCGCTGAGCGTGAGGC	0.637000													9	846					0.0581538	0.0866955	0.058154	1	0
TSSC2	0	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													5	191					0	0	0.029380	0	0
HERC2P3	0	broad.mit.edu	37	15	20644585	20644585	+	RNA	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:20644585C>T	ENST00000428453.1	-	0	3187																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCTGAGTGACGGCACTGCAC	0.617000													4	37					0	0	0.047766	0	0
RIMS2	9699	broad.mit.edu	37	8	105026833	105026833	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:105026833G>A	ENST00000507740.1	+	17	3002	c.2766G>A	c.(2764-2766)acG>acA	p.T922T	RIMS2_ENST00000262231.10_Silent_p.T947T|RIMS2_ENST00000436393.2_Silent_p.T848T|RIMS2_ENST00000406091.3_Silent_p.T1108T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1170					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAAGGGAACGTTGGATAGAA	0.438000										HNSCC(12;0.0054)			48	185					0	0	0.139131	0	0
NLK	51701	broad.mit.edu	37	17	26495642	26495642	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:26495642G>A	ENST00000407008.3	+	6	1724	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	336	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGAACTACTAGGACGAAGAAT	0.413000													69	273					0	0	0.139131	0	0
GABPB2	126626	broad.mit.edu	37	1	151063024	151063024	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:151063024C>T	ENST00000368918.3	+	3	582	c.251C>T	c.(250-252)gCg>gTg	p.A84V	GABPB2_ENST00000368916.1_Missense_Mutation_p.A84V|GABPB2_ENST00000368917.1_Missense_Mutation_p.A84V	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	84					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GATGGACATGCGCACATCGTG	0.488000													5	557					0	0	0.217242	0	0
DPY19L2P1	0	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889																											ATCTTCGTAAAGTGGATGATT	0.423000													5	309					0	0	0.119110	0	0
SLX4	84464	broad.mit.edu	37	16	3639154	3639154	+	Silent	SNP	C	C	T	rs140872903		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:3639154C>T	ENST00000294008.3	-	12	5125	c.4485G>A	c.(4483-4485)gcG>gcA	p.A1495A		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1495	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCAGGGAGCCCGCGCCCGAGG	0.647000								Direct reversal of damage					158	652					0	0	0.139131	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								15	193					0	0	0.146539	0	0
SCN1A	6323	broad.mit.edu	37	2	166911170	166911170	+	Missense_Mutation	SNP	C	C	A	rs121917935		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:166911170C>A	ENST00000423058.2	-	4	597	c.580G>T	c.(580-582)Gat>Tat	p.D194Y	SCN1A_ENST00000303395.4_Missense_Mutation_p.D194Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.D194Y|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D194Y|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	194			D -> N (in SMEI; dbSNP:rs121917935).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACAGTGAAATCGAGCCAGTTC	0.338000													5	267					0.184627	0.26547	0.184627	1	0
MUC4	4585	broad.mit.edu	37	3	195511788	195511788	+	Silent	SNP	G	G	A	rs71291863		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr3:195511788G>A	ENST00000463781.3	-	2	7122	c.6663C>T	c.(6661-6663)caC>caT	p.H2221H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.H2221H|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1010					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGATGGCGTGACCTGTGG	0.597000													5	21					0	0	0.217242	0	0
SLC6A9	6536	broad.mit.edu	37	1	44463241	44463241	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:44463241G>A	ENST00000372310.3	-	14	2043	c.1878C>T	c.(1876-1878)agC>agT	p.S626S	SLC6A9_ENST00000357730.2_Silent_p.S645S|SLC6A9_ENST00000475075.2_Silent_p.S515S|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Silent_p.S699S|SLC6A9_ENST00000372306.3_Intron	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	699						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCTGGAGGCGGCTGGAGCCAT	0.677000													6	568					0	0	0.217242	0	0
NLRP13	126204	broad.mit.edu	37	19	56416346	56416346	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:56416346C>T	ENST00000588751.1	-	8	2604	c.2580G>A	c.(2578-2580)gcG>gcA	p.A860A	NLRP13_ENST00000342929.3_Silent_p.A860A			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	860							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAGTCAGGGCCGCACACAATA	0.468000													31	116					0	0	0.173368	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667870	49667870	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:49667870C>T	ENST00000249601.4	-	5	812	c.516G>A	c.(514-516)gcG>gcA	p.A172A	ARHGAP22_ENST00000374170.1_Silent_p.A82A|ARHGAP22_ENST00000435790.2_Silent_p.A178A|ARHGAP22_ENST00000374172.1_Silent_p.A63A|ARHGAP22_ENST00000417912.2_Silent_p.A188A|ARHGAP22_ENST00000417247.2_Silent_p.A82A	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	172	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGCAGGGGCGCCAGGCGGG	0.652000													67	297					0	0	0.139131	0	0
GTF3C1	2975	broad.mit.edu	37	16	27481702	27481702	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:27481702C>A	ENST00000356183.4	-	31	4556	c.4541G>T	c.(4540-4542)cGa>cTa	p.R1514L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1514L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1514						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTTGGAAATCGCCACGTAAA	0.502000													6	635					0.217242	0.299942	0.217242	1	0
ZDHHC2	51201	broad.mit.edu	37	8	17067927	17067927	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:17067927C>T	ENST00000262096.8	+	10	1583	c.888C>T	c.(886-888)tgC>tgT	p.C296C		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	296						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TTCCAACTTGCCTTGTTAACC	0.368000													4	161					0	0	0.184627	0	0
GAR1	54433	broad.mit.edu	37	4	110740164	110740164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:110740164C>A	ENST00000226796.6	+	4	641	c.377C>A	c.(376-378)tCa>tAa	p.S126*	GAR1_ENST00000394631.3_Nonsense_Mutation_p.S126*	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	126					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TAGTATTTTTCAGTTAAGTTG	0.299000													10	403					0.000442599	0.000768226	0.058154	1	0
FAT2	2196	broad.mit.edu	37	5	150947407	150947407	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr5:150947407G>T	ENST00000261800.5	-	1	1098	c.1086C>A	c.(1084-1086)ttC>ttA	p.F362L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	362					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCTTCTCGAATTTGAGGG	0.547000													6	466					0.217242	0.299942	0.217242	1	0
D86994.2	0	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													5	25					1.23904e-05	2.19771e-05	0.184627	1	0
ATP5B	506	broad.mit.edu	37	12	57037629	57037629	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:57037629C>T	ENST00000262030.3	-	4	649	c.599G>A	c.(598-600)gGc>gAc	p.G200D	ATP5B_ENST00000552919.1_Missense_Mutation_p.G200D	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	200					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAATTTTGCCACCCTTGGC	0.418000													5	427					0	0	0.184627	0	0
RP11-119F19.2	0	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs150975459	by1000genomes	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612000													5	117					0	0	0.217242	0	0
TRAV3	0	broad.mit.edu	37	14	22192277	22192277	+	RNA	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:22192277C>T	ENST00000390425.2	+	0	228																											TACAGGTGGGCTGAGAGCTCA	0.478000													71	288					0	0	0.139131	0	0
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:186544317G>A	ENST00000431808.1	-	14	2817	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522000													7	908					0	0	0.217242	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820227	50820227	+	Nonsense_Mutation	SNP	G	G	T	rs144340824		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:50820227G>T	ENST00000374115.3	+	1	1881	c.1441G>T	c.(1441-1443)Gag>Tag	p.E481*	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	481					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTCCCGTTCCGAGCGCGATGT	0.657000													5	293					0.217242	0.299942	0.217242	1	0
CXCR4	0	broad.mit.edu	37	2	136873279	136873279	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:136873279C>T	ENST00000409817.1	-	1	534	c.231G>A	c.(229-231)acG>acA	p.T77T	CXCR4_ENST00000241393.3_Silent_p.T73T|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	73					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.T77T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TGTACTTGTCCGTCATGCTTC	0.517000													76	346					0	0	0.139131	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:35930362T>C	ENST00000494488.2	+	10	915	c.915T>C	c.(913-915)taT>taC	p.Y305Y	SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron			Q16181	SEPT7_HUMAN	septin 7	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000													6	118					0	0	0.217242	0	0
ZNF195	0	broad.mit.edu	37	11	3380678	3380678	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:3380678C>T	ENST00000354599.6	-	4	1448	c.1344G>A	c.(1342-1344)aaG>aaA	p.K448K	ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000399602.4_Silent_p.K520K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000526601.1_Silent_p.K501K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGCTTCTCTCCAG	0.403000													7	742					0	0	0.038147	0	0
ASPM	259266	broad.mit.edu	37	1	197062244	197062244	+	Nonsense_Mutation	SNP	C	C	A	rs36074161		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:197062244C>A	ENST00000367409.4	-	21	9488	c.9232G>T	c.(9232-9234)Gaa>Taa	p.E3078*	ASPM_ENST00000367408.1_Nonsense_Mutation_p.E743*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.E1493*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3078					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTTAAATTCAATATATTTT	0.363000													6	579					0.00307968	0.00519696	0.038147	1	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								9	198					0	0	0.047766	0	0
NPIPB5	100132247	broad.mit.edu	37	16	22545865	22545865	+	Missense_Mutation	SNP	G	G	C	rs147500263	by1000genomes	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:22545865G>C	ENST00000424340.1	+	7	1840	c.1561G>C	c.(1561-1563)Gcc>Ccc	p.A521P	NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TCAGCTCACTGCCCTTCCACC	0.567000													8	1206					0	0	0.038147	0	0
F13B	2165	broad.mit.edu	37	1	197032085	197032085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:197032085G>T	ENST00000367412.1	-	2	210	c.167C>A	c.(166-168)tCa>tAa	p.S56*		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	56	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GCAGAAAAATGACAATTTTTT	0.398000													9	1140					0.0293803	0.0463599	0.029380	1	0
NPAS3	64067	broad.mit.edu	37	14	34269465	34269465	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:34269465A>T	ENST00000346562.2	+	11	1930	c.1856A>T	c.(1855-1857)gAg>gTg	p.E619V	NPAS3_ENST00000551492.1_Missense_Mutation_p.E656V|NPAS3_ENST00000357798.5_Missense_Mutation_p.E638V|NPAS3_ENST00000548645.1_Missense_Mutation_p.E621V|NPAS3_ENST00000356141.4_Missense_Mutation_p.E651V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATCAAGACGGAGATCTCAGAA	0.627000													36	154					0	0	0.203993	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000													7	470					0	0	0.038147	0	0
ADCY10	55811	broad.mit.edu	37	1	167865890	167865890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:167865890C>A	ENST00000367848.1	-	7	903	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	ADCY10_ENST00000367851.4_Nonsense_Mutation_p.E228*|ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E75*			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	228	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTGAAAAATTCATCAAAATTA	0.358000													8	1228					0.184627	0.26547	0.184627	1	0
FRG1B	0	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K														p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338000													6	514					0	0	0.105934	0	0
SV2A	0	broad.mit.edu	37	1	149882423	149882423	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:149882423C>T	ENST00000369146.3	-	4	1400	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	SV2A_ENST00000369145.1_Missense_Mutation_p.G304S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	304					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCGTACACGCCACCAATCATC	0.562000													50	228					0	0	0.139131	0	0
ZNF219	0	broad.mit.edu	37	14	21561128	21561128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:21561128C>A	ENST00000360947.3	-	3	739	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ZNF219_ENST00000421093.2_Nonsense_Mutation_p.E110*|ZNF219_ENST00000451119.2_Nonsense_Mutation_p.E110*	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	110					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGTGGGCGCTCGGGCTGGTGT	0.721000											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	104					0.014758	0.024231	0.184627	1	0
PRG4	10216	broad.mit.edu	37	1	186269304	186269304	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:186269304A>C	ENST00000445192.2	+	3	203	c.158A>C	c.(157-159)tAc>tCc	p.Y53S	PRG4_ENST00000367486.3_Missense_Mutation_p.Y53S|PRG4_ENST00000367483.4_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.Y53S|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	53	SMB 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGTCAACACTACATGGAGTGC	0.483000													96	723					0	0	0.139131	0	0
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	A	rs17851045		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:25380275T>A	ENST00000311936.3	-	3	374	c.183A>T	c.(181-183)caA>caT	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423000	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			72	278					0	0	0.139131	0	0
MGAM	8972	broad.mit.edu	37	7	141766505	141766505	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:141766505C>T	ENST00000475668.2	+	41	4957	c.4903C>T	c.(4903-4905)Cgg>Tgg	p.R1635W	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.483000													6	669					0	0	0.029380	0	0
APOA4	337	broad.mit.edu	37	11	116692155	116692155	+	Nonsense_Mutation	SNP	C	C	A	rs145184607		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:116692155C>A	ENST00000357780.3	-	3	733	c.619G>T	c.(619-621)Gaa>Taa	p.E207*		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ACTTTGAATTCGTCAGCGTAG	0.622000													11	1063					0.0477658	0.0725442	0.047766	1	0
SLC6A9	6536	broad.mit.edu	37	1	44463406	44463406	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:44463406C>A	ENST00000372310.3	-	14	1878	c.1713G>T	c.(1711-1713)ttG>ttT	p.L571F	SLC6A9_ENST00000357730.2_Missense_Mutation_p.L590F|SLC6A9_ENST00000475075.2_Missense_Mutation_p.L460F|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Missense_Mutation_p.L644F|SLC6A9_ENST00000372306.3_Intron	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	644						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGGCATTTTTCAAACGCTGCA	0.647000													7	597					0.0293803	0.0463599	0.029380	1	0
MS4A3	932	broad.mit.edu	37	11	59837071	59837071	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:59837071C>T	ENST00000278865.3	+	6	611	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	MS4A3_ENST00000534744.1_Missense_Mutation_p.L134F|MS4A3_ENST00000358152.2_Missense_Mutation_p.L134F|MS4A3_ENST00000395032.2_Missense_Mutation_p.L57F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	180						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				ACTGCTGATTCTCACCTTGCT	0.413000													14	754					0	0	0.105934	0	0
ZNF462	58499	broad.mit.edu	37	9	109689490	109689490	+	Silent	SNP	A	A	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:109689490A>C	ENST00000277225.5	+	3	3586	c.3297A>C	c.(3295-3297)ccA>ccC	p.P1099P	ZNF462_ENST00000457913.1_Silent_p.P1099P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1099					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1099P(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGGGTTCCCCACCCCCCCCAC	0.532000													12	128					0	0	0.083992	0	0
MYBPH	4608	broad.mit.edu	37	1	203138179	203138179	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:203138179G>A	ENST00000255416.4	-	9	1329	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	424	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ATTTGGGGTTGCCCTGGATCT	0.562000													78	563					0	0	0.139131	0	0
KLHL31	401265	broad.mit.edu	37	6	53519025	53519025	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:53519025G>A	ENST00000370905.3	-	2	1186	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	KLHL31_ENST00000407079.1_Missense_Mutation_p.T349M	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGGCATTTCCGTAAGCTTGCT	0.483000													6	421					0	0	0.217242	0	0
TAS2R20	259295	broad.mit.edu	37	12	11149731	11149731	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:11149731C>T	ENST00000538986.1	-	1	743	c.744G>A	c.(742-744)tcG>tcA	p.S248S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	248					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AATTCCAAAACGATATGATTA	0.378000													75	348					0	0	0.139131	0	0
OR5A1	219982	broad.mit.edu	37	11	59211572	59211572	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:59211572A>G	ENST00000302030.2	+	1	956	c.931A>G	c.(931-933)Aag>Gag	p.K311E		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTTGGAAAGGAAGAAAGTGTT	0.438000													101	456					0	0	0.139131	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													7	593					0	0	0.029380	0	0
CD207	50489	broad.mit.edu	37	2	71060828	71060828	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:71060828G>A	ENST00000410009.3	-	3	559	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	172					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TGGAGTGCCCGGATCTTTGTA	0.428000													45	196					0	0	0.139131	0	0
TNS3	64759	broad.mit.edu	37	7	47407972	47407972	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:47407972G>A	ENST00000398879.1	-	17	2637	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	TNS3_ENST00000311160.9_Silent_p.T757T|TNS3_ENST00000355730.3_Silent_p.T517T			Q68CZ2	TENS3_HUMAN	tensin 3	757						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTGCCGCCCGGTGGCCCTGC	0.632000													6	787					0	0	0.217242	0	0
PCDHB8	0	broad.mit.edu	37	5	140559512	140559512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr5:140559512G>T	ENST00000239444.2	+	1	2142	c.1897G>T	c.(1897-1899)Gag>Tag	p.E633*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		633	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGAGCGAGCGCGACGC	0.692000													5	401					0.184627	0.26547	0.184627	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39908691	39908691	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:39908691G>T	ENST00000425673.1	+	9	1354	c.1029G>T	c.(1027-1029)atG>atT	p.M343I	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.M343I|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.M284I|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.M343I|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.M343I			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	343	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTCTCGGATGCTGCTGGTGG	0.612000													8	62					0.0477658	0.0725442	0.047766	1	0
NAA25	80018	broad.mit.edu	37	12	112516479	112516479	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:112516479C>A	ENST00000261745.4	-	6	792	c.544G>T	c.(544-546)Gaa>Taa	p.E182*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	182						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACCATTTTTTCGACCATTCTC	0.348000													5	404					0.217242	0.299942	0.217242	1	0
DNM1P47	0	broad.mit.edu	37	15	102294651	102294651	+	RNA	SNP	T	T	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:102294651T>G	ENST00000561463.1	+	0	2697																											TCAGAGCTGCTGTCCAACCTG	0.587000													5	152					0	0	0.093190	0	0
BTBD7	55727	broad.mit.edu	37	14	93761248	93761248	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:93761248C>A	ENST00000334746.5	-	3	425	c.118G>T	c.(118-120)Gaa>Taa	p.E40*	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Nonsense_Mutation_p.E40*|BTBD7_ENST00000555525.1_Nonsense_Mutation_p.E40*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	40										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AACTTTGATTCGCAACCATAG	0.348000													6	442					0.217242	0.299942	0.217242	1	0
OR2M5	127059	broad.mit.edu	37	1	248309316	248309316	+	Silent	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:248309316C>A	ENST00000366476.1	+	1	867	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	289					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)			ATCCCCTCATCTACAGCCTCC	0.493000													99	610					3.26951e-42	5.97362e-42	0.139131	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	52					0	0	0.038147	0	0
SORBS2	8470	broad.mit.edu	37	4	186544436	186544436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:186544436G>T	ENST00000431808.1	-	14	2698	c.2135C>A	c.(2134-2136)tCg>tAg	p.S712*	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Nonsense_Mutation_p.S812*|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Nonsense_Mutation_p.S712*|SORBS2_ENST00000418609.1_Nonsense_Mutation_p.S616*			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	712						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTTAGGAGCCGAATTTTTTTT	0.448000													7	767					0.0293803	0.0463599	0.029380	1	0
HYOU1	10525	broad.mit.edu	37	11	118919004	118919004	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:118919004C>T	ENST00000404233.3	-	20	2456	c.2332G>A	c.(2332-2334)Gca>Aca	p.A778T	HYOU1_ENST00000525859.1_Missense_Mutation_p.A716T|HYOU1_ENST00000529972.1_Missense_Mutation_p.A716T	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	778						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CAGGTGGATGCGGCGCTGAGC	0.617000													7	383					0	0	0.038147	0	0
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctg>ct	p.LK116del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	116					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576													10	314	---	---	---	---					
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:12785492_12785493insT	ENST00000332530.3	+	3	598_599	c.372_373insT	c.(370-375)tagtttfs	p.*F124fs	AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	194							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455													7	820	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431													7	503	---	---	---	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													9	894	---	---	---	---					
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cag>ca	p.QR1173del	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1173					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													9	500	---	---	---	---					
NDC1	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:54298190_54298192delTTA	ENST00000371429.3	-	3	849_851	c.251_253delTAA	c.(250-255)agt>a	p.IS84del	NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TTGAAAATACTTATTATTATTAT	0.305													7	212	---	---	---	---					
USP1	7398	broad.mit.edu	37	1	62916272	62916272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:62916272delA	ENST00000339950.4	+	9	2793	c.1978delA	c.(1978-1980)aafs	p.K661fs	USP1_ENST00000371146.1_Frame_Shift_Del_p.K661fs	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	661					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGTTTTGAACAAAAAAAATGT	0.373													7	315	---	---	---	---					
TNNI3K	51086	broad.mit.edu	37	1	74957824	74957826	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:74957824_74957826delCTT	ENST00000370891.2	+	25	2544_2546	c.2528_2530delCTT	c.(2527-2532)cct>c	p.PS843del	FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTCTCTCACCTTCTTCTTCTTC	0.473													8	902	---	---	---	---					
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:114968116_114968118delTGT	ENST00000358465.2	-	9	1731_1733	c.1648_1650delACA	c.(1648-1650)del	p.T550del	TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	550	Poly-Thr.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid								8	1135	---	---	---	---					
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gag>ga	p.EE173del	POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448													7	151	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)tcfs	p.L289fs	ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557													7	545	---	---	---	---					
SYT2	127833	broad.mit.edu	37	1	202573647	202573649	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:202573647_202573649delTTC	ENST00000367267.1	-	3	471_473	c.279_281delGAA	c.(277-282)aac>aa	p.KN93del	RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	93					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.N94S(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ctccttcttgttcttcttcttct	0.532													9	534	---	---	---	---					
RAB4A	5867	broad.mit.edu	37	1	229422305	229422305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:229422305delA	ENST00000366690.4	+	2	312	c.104delA	c.(103-105)gafs	p.E35fs	RAB4A_ENST00000473894.1_Intron	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	30							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CAGTTTATTGAAAAAAAATGT	0.323													8	260	---	---	---	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)cafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													11	560	---	---	---	---					
OR2T33	391195	broad.mit.edu	37	1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)ggfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428													10	518	---	---	---	---					
PXDN	7837	broad.mit.edu	37	2	1651971	1651971	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:1651971delT	ENST00000252804.4	-	17	3631	c.3581delA	c.(3580-3582)acfs	p.N1194fs		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1194					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GATCTCAGGGTTTTTAATCTC	0.552													7	1055	---	---	---	---					
APOB	338	broad.mit.edu	37	2	21228307	21228307	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:21228307delA	ENST00000233242.1	-	26	11560	c.11433delT	c.(11431-11433)ttfs	p.F3811fs		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3811					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGGTTATCTCAAAAAAGGGAA	0.428													7	891	---	---	---	---					
FAM98A	25940	broad.mit.edu	37	2	33813402	33813402	+	Splice_Site	DEL	T	T	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:33813402delT	ENST00000403368.1	-	4	591	c.522_splice	c.e4+1	p.K174_splice	FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Splice_Site_p.K174_splice	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	175										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AAGGTCTTACTTTTTTTTCAA	0.338													9	475	---	---	---	---					
AC007092.1	0	broad.mit.edu	37	2	58688842	58688843	+	RNA	DEL	CT	CT	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:58688842_58688843delCT	ENST00000452840.1	+	0	127																											TCTCTGCTAGCTCTCTCTCTCT	0.465													7	161	---	---	---	---					
ANKRD36BP2	0	broad.mit.edu	37	2	89082220	89082223	+	RNA	DEL	TGAT	TGAT	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:89082220_89082223delTGAT	ENST00000393525.3	+	0	474																											TGTGTACATATGATTGATTATGTA	0.328													8	139	---	---	---	---					
ANKRD20A8P	0	broad.mit.edu	37	2	95519511	95519512	+	RNA	INS	-	-	TACT			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:95519511_95519512insTACT	ENST00000432432.2	-	0	316					NR_040113.1																						TTCAAAACAAATAATTTTTTTG	0.307													9	107	---	---	---	---					
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)aaafs	p.K700fs		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307													8	926	---	---	---	---					
RGPD8	727851	broad.mit.edu	37	2	113181886	113181887	+	Splice_Site	INS	-	-	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:113181886_113181887insA	ENST00000302558.3	-	2	264		c.e2-2		RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CATTGACTTCTAAAAAAAAATT	0.252													8	766	---	---	---	---					
SCN9A	6335	broad.mit.edu	37	2	167055992	167055992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:167055992delT	ENST00000375387.4	-	27	5500	c.5160delA	c.(5158-5160)aafs	p.K1720fs	SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1719						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGGATGAACTTTTTTTGGGT	0.423													8	1118	---	---	---	---					
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)tfs	p.H565fs	ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	811							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411													9	74	---	---	---	---					
IKZF2	22807	broad.mit.edu	37	2	214012392	214012393	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:214012392_214012393delAC	ENST00000442445.1	-	3	253_254	c.196_197delGT	c.(196-198)cfs	p.V66fs	IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000413091.3_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGCTGGAGAGACACACACACAC	0.401													7	358	---	---	---	---					
AAMP	14	broad.mit.edu	37	2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)cafs	p.P15fs	AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617													8	1534	---	---	---	---					
USP4	7375	broad.mit.edu	37	3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr3:49321969_49321971delTCT	ENST00000351842.4	-	17	2185_2187	c.2177_2179delAGA	c.(2176-2181)acc>a	p.KT726del	USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532													12	631	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294													7	35	---	---	---	---					
SEC62	7095	broad.mit.edu	37	3	169700663	169700664	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr3:169700663_169700664insA	ENST00000337002.4	+	4	478_479	c.420_421insA	c.(418-423)gaaaaafs	p.EK140fs	SEC62_ENST00000480708.1_Frame_Shift_Ins_p.EK140fs|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	140					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						aagaaaaagagaaaaaaaaaga	0.277													7	171	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)tfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													9	485	---	---	---	---					
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)ttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGCTCAGGTCAAAAAAAATTG	0.294													7	292	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:134073569_134073571delCTG	ENST00000264360.4	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctc>ct	p.LC758del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	758	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581													7	233	---	---	---	---					
TCERG1	10915	broad.mit.edu	37	5	145886722	145886723	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr5:145886722_145886723insA	ENST00000296702.5	+	19	2900_2901	c.2862_2863insA	c.(2860-2865)acaaaafs	p.TK954fs	TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.TK933fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	954					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCACTTACCAAAAAAAAGAG	0.376													8	653	---	---	---	---					
TNXB	7148	broad.mit.edu	37	6	32063513	32063514	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:32063513_32063514delAC	ENST00000375244.3	-	3	2317_2318	c.2116_2117delGT	c.(2116-2118)afs	p.V706fs	TNXB_ENST00000375247.2_Frame_Shift_Del_p.V706fs|TNXB_ENST00000479795.1_Frame_Shift_Del_p.V706fs			P22105	TENX_HUMAN	tenascin XB	706	EGF-like 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAAGCCCTCTACACACACACAC	0.668													7	218	---	---	---	---					
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													8	529	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111709251	111709251	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:111709251delT	ENST00000435970.1	-	10	1482	c.666delA	c.(664-666)aafs	p.K222fs	REV3L_ENST00000368802.3_Frame_Shift_Del_p.K300fs|REV3L_ENST00000358835.3_Frame_Shift_Del_p.K300fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.K300fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	300					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTCTGAAATTTTTTTTCAC	0.284								DNA polymerases (catalytic subunits)					7	477	---	---	---	---					
AHI1	54806	broad.mit.edu	37	6	135784283	135784284	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:135784283_135784284insT	ENST00000367800.4	-	6	1126_1127	c.910_911insA	c.(910-912)aaafs	p.K304fs	AHI1_ENST00000457866.2_Frame_Shift_Ins_p.K304fs|AHI1_ENST00000327035.6_Frame_Shift_Ins_p.K304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	304						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTCTTTTTTGTTTTTTTTGGT	0.307													7	391	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:146350671_146350672insT	ENST00000392299.2	+	2	488_489	c.18_19insT	c.(16-21)ttttttfs	p.FF6fs	GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	6					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTCCTTTTGTTTTTTTTCCC	0.644													8	655	---	---	---	---					
MPP6	51678	broad.mit.edu	37	7	24705665	24705666	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:24705665_24705666insA	ENST00000396475.2	+	9	1208_1209	c.909_910insA	c.(907-912)agaaaafs	p.RK303fs	MPP6_ENST00000222644.4_Frame_Shift_Ins_p.RK303fs|MPP6_ENST00000409761.1_Frame_Shift_Ins_p.RK191fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	303					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CTATAAGTAGCAAAAAAAAGAA	0.302													7	865	---	---	---	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs10951154	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)cac>ca	p.HR72del	HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	72	Poly-His.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	307	---	---	---	---					
WASL	8976	broad.mit.edu	37	7	123332873	123332875	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:123332873_123332875delGGA	ENST00000223023.4	-	9	1205_1207	c.873_875delTCC	c.(871-876)ccc>cc	p.PP293del		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	293	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gtgtggagggggaggaggaggag	0.567													9	362	---	---	---	---					
TRBV7-4	0	broad.mit.edu	37	7	142176678	142176679	+	RNA	DEL	CA	CA	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:142176678_142176679delCA	ENST00000390369.2	-	0	49																											GTAGTCATCGCACACACACACA	0.460													13	304	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-	rs137989738		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)del	p.S745del	DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	745	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621													8	304	---	---	---	---					
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)tcafs	p.S7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535													7	343	---	---	---	---					
NOL6	65083	broad.mit.edu	37	9	33463120	33463120	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:33463120delC	ENST00000455041.2	-	24	3105	c.3046delG	c.(3046-3048)atfs	p.D1016fs	NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1068					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGGGCCAGATCCCCAAAGGCC	0.557													14	91	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													10	57	---	---	---	---					
PRTFDC1	56952	broad.mit.edu	37	10	25226219	25226219	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:25226219delC	ENST00000320152.6	-	3	261	c.233delG	c.(232-234)gtfs	p.G78fs	PRTFDC1_ENST00000376378.1_Frame_Shift_Del_p.G78fs|PRTFDC1_ENST00000376376.3_Frame_Shift_Del_p.G78fs	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	78					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						GAATTTGTAACCTCCTTTAAG	0.378													86	232	---	---	---	---					
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:46969401_46969403delCAG	ENST00000374325.3	-	2	210_212	c.58_60delCTG	c.(58-60)del	p.L21del	SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631													10	339	---	---	---	---					
A1CF	29974	broad.mit.edu	37	10	52569667	52569669	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:52569667_52569669delAGC	ENST00000395489.2	-	14	1993_1995	c.1597_1599delGCT	c.(1597-1599)del	p.A533del	ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del|A1CF_ENST00000373995.3_In_Frame_Del_p.A540del|A1CF_ENST00000373993.1_In_Frame_Del_p.A540del|A1CF_ENST00000374001.1_In_Frame_Del_p.A532del|A1CF_ENST00000395495.1_In_Frame_Del_p.A485del	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	540					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGAAagcagtagcagcagcagca	0.512													7	392	---	---	---	---					
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:102763415_102763417delCCT	ENST00000370220.1	+	2	3623_3625	c.560_562delCCT	c.(559-564)gcc>g	p.AS187del	LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	187	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.650													13	676	---	---	---	---					
MUC6	4588	broad.mit.edu	37	11	1025891	1025892	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:1025891_1025892insT	ENST00000421673.2	-	22	2762_2763	c.2712_2713insA	c.(2710-2715)tcagccfs	p.A905fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	905	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGTGGGCTGTGAGTCGTTGA	0.658													17	101	---	---	---	---					
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)acfs	p.N1311fs	NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1328					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								9	1114	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													12	733	---	---	---	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:108788635_108788637delTGA	ENST00000526794.1	+	17	2372_2374	c.2340_2342delTGA	c.(2338-2343)agt>ag	p.SD780del	DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	780							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*								7	353	---	---	---	---					
BCL9L	283149	broad.mit.edu	37	11	118772974	118772974	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:118772974delG	ENST00000334801.3	-	6	2442	c.1478delC	c.(1477-1479)cgfs	p.P493fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	493	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GTCCCCACCCGGGGGGTGCCC	0.622													7	703	---	---	---	---					
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(301-306)ctttttfs	p.LF101fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													11	867	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aag>aa	p.NK168del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596													10	1271	---	---	---	---					
KIF21A	55605	broad.mit.edu	37	12	39713783	39713784	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:39713783_39713784insT	ENST00000395670.3	-	27	4122_4123	c.3703_3704insA	c.(3703-3705)tccfs	p.S1235fs	KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.S1199fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.S1222fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.S1215fs|KIF21A_ENST00000361418.5_Frame_Shift_Ins_p.S1235fs|KIF21A_ENST00000547745.1_5'UTR			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1235					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AGGCTCTGGAATTTTTTTTTCT	0.342													8	589	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:46320707_46320708delTC	ENST00000465950.1	-	1	3040_3041	c.1831_1832delGA	c.(1831-1833)afs	p.E611fs	SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													10	910	---	---	---	---					
MBD6	0	broad.mit.edu	37	12	57919302	57919302	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:57919302delT	ENST00000355673.3	+	6	907	c.551delT	c.(550-552)ctfs	p.L184fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.L184fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	184	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTGGGGGGCTTTTCCCCCCA	0.637													7	614	---	---	---	---					
EBPL	84650	broad.mit.edu	37	13	50235208	50235209	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr13:50235208_50235209insA	ENST00000242827.6	-	4	566_567	c.516_517insT	c.(514-519)ttacggfs	p.LR172fs	EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_Stop_Codon_Ins|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	172					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.F172fs*7(1)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		CACACACCGTTAAAAAAAAACA	0.480													8	261	---	---	---	---					
APEX1	328	broad.mit.edu	37	14	20923820	20923820	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:20923820delA	ENST00000216714.3	+	2	284	c.16delA	c.(16-18)aafs	p.K7fs	APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs|APEX1_ENST00000557365.1_Intron	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	7	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAAGCGTGGGAAAAAGGGAGC	0.557								Other BER factors					7	775	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174626	63174626	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:63174626delT	ENST00000322893.7	-	11	2835	c.2567delA	c.(2566-2568)acfs	p.N856fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	856					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCTTAGTGGGTTTTTGGTCAC	0.463													8	709	---	---	---	---					
VRTN	55237	broad.mit.edu	37	14	74824463	74824463	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:74824463delG	ENST00000256362.4	+	2	1218	c.977delG	c.(976-978)cgfs	p.R326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated		DNA binding|transposase activity	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGCTTCCACCGGGGGGGCGTC	0.642													8	551	---	---	---	---					
MLH3	27030	broad.mit.edu	37	14	75514603	75514604	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:75514603_75514604insT	ENST00000355774.2	-	2	1970_1971	c.1755_1756insA	c.(1753-1758)aaaatcfs	p.I586fs	MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	586					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTGCTAGATTCTTTTTTTTTCT	0.356								Mismatch excision repair (MMR)					11	633	---	---	---	---					
IGHV3-23	0	broad.mit.edu	37	14	106725714	106725715	+	RNA	INS	-	-	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:106725714_106725715insG	ENST00000390609.2	-	0	18_19																											ATCCCAGGGCTGGGCTCCTCTC	0.500													11	324	---	---	---	---					
IGHV3-48	0	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304																											TAGTATATGGTACTACTACTACT	0.502													13	1418	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23283336	23283337	+	RNA	INS	-	-	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:23283336_23283337insT	ENST00000560464.1	-	0	5097																											CTTCCCAATGAGAATCTCTGAA	0.426													11	153	---	---	---	---					
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aafs	p.K11fs	FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage					7	672	---	---	---	---					
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)cta>ct	p.LL16del	EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		ATCCCCCGATAGCAGCAGCAGCA	0.665													9	684	---	---	---	---					
RAB40C	57799	broad.mit.edu	37	16	677579	677580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:677579_677580insC	ENST00000535977.1	+	7	1025_1026	c.803_804insC	c.(802-804)accfs	p.T268fs	RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	268					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q271fs*7(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCACCCCAGAGCCCCCCCCAGA	0.678													10	338	---	---	---	---					
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gcc>gc	p.AS587del	SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	587					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542													10	295	---	---	---	---					
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)del	p.E91del	COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576													8	564	---	---	---	---					
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)ccc>cc	p.PS612del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	612	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611													7	302	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaa>ga	p.EE189del		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													14	318	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:8415820_8415822delTTC	ENST00000360416.3	-	24	3037_3039	c.2899_2901delGAA	c.(2899-2901)del	p.E967del	MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.350													11	547	---	---	---	---					
RAI1	10743	broad.mit.edu	37	17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:17699993_17699995delGCA	ENST00000353383.1	+	3	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgc>c	p.RS1244del	RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1244	Poly-Ser.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TTGCGGAGCCGCAGCAGCAGCAG	0.626													8	185	---	---	---	---					
TOB1	10140	broad.mit.edu	37	17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:48940610_48940612delGTG	ENST00000499247.2	-	2	1200_1202	c.767_769delCAC	c.(766-771)cag>c	p.PQ256del	TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517													8	194	---	---	---	---					
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr18:34261459_34261460delAG	ENST00000257209.4	+	12	1493_1494	c.1371_1372delAG	c.(1369-1374)gcagfs	p.AE457fs	FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000591635.1_Intron	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	457					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.460													9	253	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1207092	1207092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:1207092delC	ENST00000326873.7	+	1	1353	c.180delC	c.(178-180)tafs	p.Y60fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	60	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.Y60fs*1(3)|p.Y60*(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCTCTTACGGCAAGGTGA	0.622		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			65	105	---	---	---	---					
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000330915.3	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gag>ga	p.DGDSE489del	KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717													7	13	---	---	---	---					
LSM14A	26065	broad.mit.edu	37	19	34710340	34710340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:34710340delC	ENST00000544216.3	+	7	903	c.826delC	c.(826-828)ggfs	p.R276fs	LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs|LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	276					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGGGGGTCATCGGGGTGGCAG	0.438													8	559	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													15	326	---	---	---	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)del	p.L394del	FUZ_ENST00000445575.2_Intron|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635													7	182	---	---	---	---					
SIGLEC9	27180	broad.mit.edu	37	19	51628233	51628235	+	Translation_Start_Site	DEL	TGC	TGC	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:51628233_51628235delTGC	ENST00000440804.3	+	0	69_71				SIGLEC9_ENST00000250360.3_Start_Codon_Del	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9						cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCCCAGACATGCTGCTGCTGCT	0.611													9	178	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21146788	21146789	+	RNA	INS	-	-	T	rs34056823		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr20:21146788_21146789insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							tgtattttGTATTTTTTTTTTT	0.401													7	52	---	---	---	---					
ZNF337	26152	broad.mit.edu	37	20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)afs	p.T231fs	RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.510													9	398	---	---	---	---					
BCAS1	8537	broad.mit.edu	37	20	52611567	52611567	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr20:52611567delT	ENST00000395961.3	-	6	1077	c.911delA	c.(910-912)agfs	p.K304fs	BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K304fs|BCAS1_ENST00000434986.2_Frame_Shift_Del_p.K17fs|BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K304fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	304						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTCTGGGTCCTTTTTTGTTTC	0.338													7	799	---	---	---	---					
TCP10L	140290	broad.mit.edu	37	21	33949091	33949091	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr21:33949091delC	ENST00000300258.3	-	5	754	c.641delG	c.(640-642)gtfs	p.G214fs	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCTTCAGACACCCCCCCGTCT	0.478													7	546	---	---	---	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													8	1371	---	---	---	---					
ZNRF3	84133	broad.mit.edu	37	22	29445819	29445821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr22:29445819_29445821delCAG	ENST00000544604.2	+	8	1825_1827	c.1650_1652delCAG	c.(1648-1653)gac>ga	p.DS550del	ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	550						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGgcagcgacagcagcagcagc	0.660													7	188	---	---	---	---					
BCOR	54880	broad.mit.edu	37	X	39933796	39933797	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chrX:39933796_39933797delGA	ENST00000342274.4	-	4	1164_1165	c.802_803delTC	c.(802-804)gfs	p.S268fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.S268fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.S268fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.S268fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	268					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						CGAAGGTGTCGAGAGCCTCATG	0.609			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						17	40	---	---	---	---					
TSIX	0	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	AC	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCACACATGACACACACACAC	0.470													12	302	---	---	---	---					
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chrX:110406206_110406208delGAA	ENST00000519681.1	+	10	1037_1039	c.595_597delGAA	c.(595-597)del	p.E203del	PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			14	352	---	---	---	---					
SPANXN3	139067	broad.mit.edu	37	X	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)atfs	p.N24fs		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453													7	388	---	---	---	---					
ARHGAP4	393	broad.mit.edu	37	X	153173252	153173253	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chrX:153173252_153173253insC	ENST00000370028.3	-	23	2948_2949	c.2891_2892insG	c.(2890-2892)gccfs	p.A964fs	ARHGAP4_ENST00000393721.1_Frame_Shift_Ins_p.A746fs|ARHGAP4_ENST00000370016.1_Frame_Shift_Ins_p.A903fs|ARHGAP4_ENST00000537206.1_Frame_Shift_Ins_p.A901fs|ARHGAP4_ENST00000350060.5_Frame_Shift_Ins_p.A924fs	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	924					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCCCAGGGCCCCGGGAGAA	0.713													7	128	---	---	---	---					
