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
BHLHB9	80823	broad.mit.edu	37	X	102004384	102004384	+	Missense_Mutation	SNP	C	C	T	rs141213425	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:102004384C>T	ENST00000372735.1	+	4	1046	c.461C>T	c.(460-462)gCg>gTg	p.A154V	BHLHB9_ENST00000457056.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A154V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	154						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGGAACCTGCGGCTGGGGCC	0.493000													129	802					0	0	1	0	0
HEXB	3074	broad.mit.edu	37	5	73981215	73981215	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:73981215C>T	ENST00000261416.7	+	1	247	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	HEXB_ENST00000511181.1_Intron	NM_000521.3	NP_000512.1	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	44					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		GGAGGCGGCTCGGGCCCCGAG	0.711000													14	79					0	0	1	0	0
PCDHGA8	0	broad.mit.edu	37	5	140772668	140772668	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:140772668C>T	ENST00000398604.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTCTGCGCTCAGAGCC	0.498000													13	370					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													8	251					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175237	57175237	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:57175237G>A	ENST00000537055.2	-	2	1561	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GTGTAGGGCCGCTCGCCCGTG	0.672000													75	435					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11837209	11837209	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:11837209G>A	ENST00000262442.3	+	65	12378	c.12310G>A	c.(12310-12312)Gat>Aat	p.D4104N	DNAH9_ENST00000396001.2_Missense_Mutation_p.D416N|DNAH9_ENST00000454412.2_Missense_Mutation_p.D4028N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4104					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCCTATGATGATTTGCGCTA	0.532000													51	296					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125506294	125506294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:125506294G>A	ENST00000241305.3	-	14	2411	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	753					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCACGCTGTCGTCTCTTCTGC	0.577000													73	463					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31604852	31604852	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr20:31604852G>T	ENST00000170150.3	+	7	716	c.521G>T	c.(520-522)tGc>tTc	p.C174F		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	174						extracellular region	lipid binding										CCACAGCTGTGCCTGAGCATC	0.617000													148	871					3.78446e-69	4.49405e-69	1	1	0
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	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													5	109					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607000													9	241					1	1	1	1	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													13	108					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219678840	219678840	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:219678840G>C	ENST00000258415.4	+	6	1541	c.1114G>C	c.(1114-1116)Ggg>Cgg	p.G372R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	372					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GGTGCCAGCCGGGCAAGTGCC	0.587000													45	308					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123411658	123411658	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:123411658C>T	ENST00000360772.3	-	20	3867	c.3489G>A	c.(3487-3489)gaG>gaA	p.E1163E	MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360304.3_Silent_p.E1163E|MYLK_ENST00000359169.1_Silent_p.E1163E|MYLK_ENST00000346322.5_Silent_p.E1094E|MYLK_ENST00000475616.1_Silent_p.E1163E			Q15746	MYLK_HUMAN	myosin light chain kinase	1163	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCCTCTGTCCTCAGGCAGTG	0.592000													13	333					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150716447	150716447	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:150716447C>T	ENST00000605938.1	-	6	1053	c.978G>A	c.(976-978)tcG>tcA	p.S326S	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Intron|ATG9B_ENST00000377974.2_Silent_p.S326S	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	326					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGGGAACCGAGCTCAGCT	0.667000													14	133					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3980040	3980040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:3980040G>T	ENST00000309311.6	-	10	1459	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	457						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTCCACGTAGCGGCCCA	0.627000													24	187					2.52088e-20	2.81745e-20	1	1	0
TEX13A	56157	broad.mit.edu	37	X	104463929	104463929	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:104463929G>T	ENST00000372578.3	-	3	1060	c.949C>A	c.(949-951)Cta>Ata	p.L317I	TEX13A_ENST00000413579.1_Missense_Mutation_p.T316N|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L317I|IL1RAPL2_ENST00000344799.4_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGGGGATATAGTGGGTATGTC	0.557000													51	330					3.21987e-24	3.70773e-24	1	1	0
AQR	9716	broad.mit.edu	37	15	35168180	35168180	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr15:35168180C>A	ENST00000156471.5	-	28	3418	c.3193G>T	c.(3193-3195)Gct>Tct	p.A1065S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1065						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGAATCTGAGCAGCCTCTTCC	0.343000													50	371					2.0833e-19	2.30579e-19	1	1	0
TRPC7	57113	broad.mit.edu	37	5	135587384	135587384	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:135587384G>A	ENST00000513104.1	-	6	1814	c.1532C>T	c.(1531-1533)aCg>aTg	p.T511M	TRPC7_ENST00000355180.3_Missense_Mutation_p.T450M|TRPC7_ENST00000426057.2_Missense_Mutation_p.T395M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	511					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTGTGCAGCGTGTCGTCCTG	0.602000													27	160					0	0	1	0	0
CYP4F24P	0	broad.mit.edu	37	19	15881953	15881953	+	RNA	SNP	A	A	G	rs4807986	by1000genomes	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:15881953A>G	ENST00000587443.2	-	0	944					NR_033864.1													p.W142fs*32(2)									CGGAAGCGCCACCCGTCATGG	0.537000													8	388					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66535410	66535410	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:66535410G>A	ENST00000273854.3	-	1	651	c.51C>T	c.(49-51)ggC>ggT	p.G17G	EPHA5_ENST00000432638.2_Silent_p.G17G|EPHA5_ENST00000511294.1_Silent_p.G17G|EPHA5_ENST00000354839.4_Silent_p.G17G	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	17					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGTCGCCGCCGCCGCTTgggg	0.756000										TSP Lung(17;0.13)			4	46					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736000													8	265					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723596	49723596	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:49723596G>A	ENST00000449682.2	-	9	1407	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	335	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P335L(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667000													6	153					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150921869	150921869	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:150921869C>G	ENST00000271640.5	+	12	1638	c.1448C>G	c.(1447-1449)tCa>tGa	p.S483*	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Nonsense_Mutation_p.S483*	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGCCCAGTCACGGAAGCAG	0.453000													74	475					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562000													11	351					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002																											AGCTTCACAGATCCACCGCTG	0.587000													7	126					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:148012531C>T	ENST00000369219.1	-	12	1444	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.K476K(2)|p.K476N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443000													4	41					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													13	638					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84342813	84342813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:84342813C>T	ENST00000295488.3	-	15	3014	c.2852G>A	c.(2851-2853)tGg>tAg	p.W951*	HELQ_ENST00000510985.1_Nonsense_Mutation_p.W884*	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	951							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGATACAGTCCAAATGTTGGT	0.358000								Other identified genes with known or suspected DNA repair function					36	220					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953504	56953504	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:56953504C>T	ENST00000504904.3	-	7	1579	c.860G>A	c.(859-861)gGg>gAg	p.G287E	ZNF667_ENST00000292069.6_Missense_Mutation_p.G287E|ZNF667_ENST00000342634.3_Missense_Mutation_p.G415E|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GAAGCCTCTCCCACATTTATT	0.363000													61	500					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165177322	165177322	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:165177322C>T	ENST00000342310.3	-	7	1177	c.795G>A	c.(793-795)caG>caA	p.Q265Q	LMX1A_ENST00000294816.2_Silent_p.Q265Q|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Silent_p.Q265Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	265	Gln-rich.|Poly-Gln.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCTGGGTGTTCTGCTGATCTT	0.572000													27	168					0	0	1	0	0
DPCD	25911	broad.mit.edu	37	10	103348197	103348197	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:103348197C>T	ENST00000416979.2	+	4	1042	c.614C>T	c.(613-615)cCt>cTt	p.P205L	DPCD_ENST00000470165.1_Intron|DPCD_ENST00000370151.4_Intron|DPCD_ENST00000370147.1_Intron|DPCD_ENST00000370148.2_Intron			Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	31							protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						GTTTTTTTCCCTCAGGGTCCG	0.667000													7	27					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505788	195505788	+	Missense_Mutation	SNP	G	G	C	rs2550253		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:195505788G>C	ENST00000463781.3	-	2	13122	c.12663C>G	c.(12661-12663)caC>caG	p.H4221Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4221Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	978					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)		GAGGGGTGGCGTGACCTGTGG	0.592000													3	61					0	0	1	0	0
CDK20	23552	broad.mit.edu	37	9	90584165	90584165	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr9:90584165C>A	ENST00000375883.3	-	6	1030	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	CDK20_ENST00000336654.5_Missense_Mutation_p.D255Y|CDK20_ENST00000325303.8_Missense_Mutation_p.D263Y|CDK20_ENST00000375871.4_Missense_Mutation_p.W200C|CDK20_ENST00000605159.1_Missense_Mutation_p.D242Y	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	263	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						CCCAGCAGATCCAATGCCTGG	0.597000													130	808					1.6318e-82	1.95816e-82	1	1	0
MYH2	4620	broad.mit.edu	37	17	10432367	10432367	+	Silent	SNP	G	G	A	rs139130605		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:10432367G>A	ENST00000245503.5	-	27	3768	c.3384C>T	c.(3382-3384)atC>atT	p.I1128I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.I1128I|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1128					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCTGCCTCGATTTCCTCCT	0.582000													58	330					0	0	1	0	0
METTL14	57721	broad.mit.edu	37	4	119626803	119626803	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119626803G>A	ENST00000388822.4	+	10	1060	c.893G>A	c.(892-894)cGt>cAt	p.R298H	METTL14_ENST00000506780.1_Missense_Mutation_p.R260H			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	298						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	p.R298P(3)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ACTGTGAAGCGTAGCACAGAC	0.373000													82	596					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34158555	34158555	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:34158555C>T	ENST00000373381.4	-	25	4203	c.4027G>A	c.(4027-4029)Gaa>Aaa	p.E1343K	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.E216K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1303	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTCTGCTTCGATGGTCCAG	0.562000													142	778					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36869292	36869292	+	Silent	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:36869292A>G	ENST00000378137.5	+	9	997	c.906A>G	c.(904-906)ccA>ccG	p.P302P	MLLT6_ENST00000325718.7_Intron			P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	631					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCCTCTGTCCAGAGGGCCTCA	0.607000			T	MLL	AL								65	319					0	0	1	0	0
HLA-DRB6	0	broad.mit.edu	37	6	32521666	32521666	+	RNA	SNP	T	T	C	rs117454723	by1000genomes	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:32521666T>C	ENST00000411500.1	-	0	817					NR_001298.1																						AACAGCCCTGTCCCAAGGAAG	0.507000													5	132					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429663	57429663	+	Missense_Mutation	SNP	A	A	C			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr20:57429663A>C	ENST00000371100.4	+	1	1895	c.1343A>C	c.(1342-1344)gAc>gCc	p.D448A	GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.D448A|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.D448A|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.T385P	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGGCCCCTGACGCCCCAGCC	0.771000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	18					0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39382043	39382043	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr22:39382043C>T	ENST00000402182.3	+	3	456	c.401C>T	c.(400-402)gCg>gTg	p.A134V	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.A134V|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.A134V			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	134					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TACCGAAGGGCGCTCTGCAGG	0.607000													54	375					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426350	125426350	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:125426350G>A	ENST00000284674.1	+	1	480	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	143					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CGCCGCGCTCGCCCTGTCCTG	0.711000													20	117					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75471704	75471704	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:75471704T>A	ENST00000427180.1	+	1	380	c.104T>A	c.(103-105)cTg>cAg	p.L35Q	SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000431235.2_Intron	NM_001113495.1	NP_001106967.1	Q9UHD8	SEPT9_HUMAN	septin 9	219					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGAGGGCAGCTGGAGGCTGCT	0.662000													5	175					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82818108	82818108	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:82818108A>G	ENST00000265077.3	+	7	4548	c.3983A>G	c.(3982-3984)gAg>gGg	p.E1328G	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E1328G|VCAN_ENST00000512590.2_Missense_Mutation_p.E1280G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1328	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TATATTATTGAGGTCAGAGAA	0.403000													63	387					0	0	1	0	0
CTD-2374C24.1	0	broad.mit.edu	37	5	104435316	104435316	+	RNA	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:104435316G>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TTTAAGTAAAGATTTGGAAGT	0.388000													60	390					1.59911e-31	1.86019e-31	1	1	0
KRT76	51350	broad.mit.edu	37	12	53170616	53170616	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:53170616C>A	ENST00000332411.2	-	1	513	c.460G>T	c.(460-462)Gga>Tga	p.G154*		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	154	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCTGAATTCCCCCAGGAAAG	0.577000													36	232					3.11337e-16	3.34835e-16	1	1	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074504	76074504	+	RNA	SNP	C	C	T	rs146281026	by1000genomes	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr15:76074504C>T	ENST00000395215.3	+	0	683																											TGAACGCACACGTGACACAGG	0.572000													5	152					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138447711	138447711	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:138447711C>G	ENST00000310018.2	-	6	633	c.351G>C	c.(349-351)ttG>ttC	p.L117F	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000483139.1_5'UTR	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	117					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.L117F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCTTTGTTTCAAGGCCTGCT	0.463000													92	512					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723603	49723603	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:49723603G>A	ENST00000449682.2	-	9	1400	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	333	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R333W(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662000													6	153					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68274196	68274196	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr14:68274196G>A	ENST00000347230.4	-	5	943	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R269W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	269					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGCAGGCCCCGGCTGGCCTTG	0.612000													39	215					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98157326	98157326	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:98157326G>A	ENST00000370192.3	-	7	809	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	237					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACATCATACGGCAGCCGGAAC	0.363000													62	281					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	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								26	457					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626541	1626541	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:1626541C>T	ENST00000421627.2	+	9	2344	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	816					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAGTACAGCGCGGTGAGAACT	0.632000													37	235					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102708080	102708080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:102708080C>A	ENST00000299855.5	-	9	1538	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	428	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GGAAAGTCTTCAGCTATTTGC	0.393000													51	460					6.4308e-24	7.33112e-24	1	1	0
DDX60L	91351	broad.mit.edu	37	4	169374381	169374381	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:169374381C>T	ENST00000511577.1	-	8	1137	c.890G>A	c.(889-891)cGt>cAt	p.R297H	DDX60L_ENST00000505890.1_Missense_Mutation_p.R297H|DDX60L_ENST00000260184.7_Missense_Mutation_p.R297H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	297							ATP binding|ATP-dependent helicase activity|RNA binding	p.R297L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACAGAGGCAACGCAGTCTGCA	0.458000													33	248					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; 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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	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)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			17	99					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17943473	17943473	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:17943473G>A	ENST00000458235.1	-	19	2634	c.2535C>T	c.(2533-2535)ggC>ggT	p.G845G	JAK3_ENST00000534444.1_Silent_p.G845G|JAK3_ENST00000527670.1_Silent_p.G845G	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	845	Protein kinase 2.			GD -> AH (in Ref. 1; AAA19626).	B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CTGTATTGTCGCCTAGCGGGT	0.617000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								94	589					0	0	1	0	0
GRIN2A	0	broad.mit.edu	37	16	9934952	9934952	+	Silent	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:9934952G>T	ENST00000396573.2	-	7	1647	c.1338C>A	c.(1336-1338)acC>acA	p.T446T	GRIN2A_ENST00000330684.3_Silent_p.T446T|GRIN2A_ENST00000404927.2_Silent_p.T446T|GRIN2A_ENST00000535259.1_Silent_p.T289T|GRIN2A_ENST00000562109.1_Silent_p.T446T|GRIN2A_ENST00000396575.2_Silent_p.T446T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	446					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCCCTCATTGGTTGAATTGC	0.403000													60	389					5.86059e-21	6.61492e-21	1	1	0
AC024560.3	0	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													11	495					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:115080343G>T	ENST00000537058.1	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000536727.1_Intron			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													8	403					5.4927e-09	5.85204e-09	1	1	0
METTL14	57721	broad.mit.edu	37	4	119609076	119609076	+	Splice_Site	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119609076A>G	ENST00000388822.4	+	2	233		c.e2-1		METTL14_ENST00000506780.1_Splice_Site			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GTCTTTTCTCAGTTGGGAGCT	0.383000													48	220					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364521	5364521	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:5364521C>T	ENST00000300773.2	-	1	288	c.234G>A	c.(232-234)acG>acA	p.T78T	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	78			T -> K (in dbSNP:rs57273781).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCAGCACCGTGGGCATTG	0.537000													45	287					0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100078981	100078981	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:100078981C>T	ENST00000415585.2	+	5	573	c.551C>T	c.(550-552)cCg>cTg	p.P184L	CSTF2_ENST00000486615.1_Intron|CSTF2_ENST00000372972.2_Missense_Mutation_p.P184L			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	184	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						ATTGTGGATCCGGAAATTGCC	0.468000													95	714					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528950	57528950	+	Silent	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:57528950A>G	ENST00000420713.1	+	4	895	c.783A>G	c.(781-783)agA>agG	p.R261R		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AACATAAGAGAATTCATACTG	0.393000													19	142					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815377	106815377	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:106815377G>A	ENST00000407775.2	+	8	3317	c.3067G>A	c.(3067-3069)Ggg>Agg	p.G1023R	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G891R|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G891R|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G754R|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1023					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTCCTCAAATGGGTGTGCTGC	0.433000													20	204					0	0	1	0	0
DHDH	27294	broad.mit.edu	37	19	49447742	49447742	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:49447742C>T	ENST00000221403.2	+	6	913	c.873C>T	c.(871-873)caC>caT	p.H291H	DHDH_ENST00000523250.1_Silent_p.H152H|DHDH_ENST00000522614.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	291					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		AGGCCAAGCACGTCTGGGAGT	0.617000													70	431					0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTCTAATAAATAAAAAGGTAA	0.338000								Other conserved DNA damage response genes					11	78					0	0	1	0	0
MALL	7851	broad.mit.edu	37	2	110849265	110849265	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:110849265G>A	ENST00000272462.2	-	2	961	c.188C>T	c.(187-189)tCg>tTg	p.S63L	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	63	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		CGAGGTGAGCGAGACATACAT	0.448000													34	468					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14756009	14756009	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:14756009G>A	ENST00000284268.6	-	4	807	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	159					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATCCCACCAGGAAACTGTATT	0.453000													51	258					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63520109	63520109	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:63520109T>A	ENST00000377819.5	+	5	3023	c.2869T>A	c.(2869-2871)Tcc>Acc	p.S957T	RTN3_ENST00000540798.1_Missense_Mutation_p.S845T|RTN3_ENST00000356000.3_Missense_Mutation_p.S180T|RTN3_ENST00000341307.2_Missense_Mutation_p.S161T|RTN3_ENST00000537981.1_Missense_Mutation_p.S161T|RTN3_ENST00000339997.4_Missense_Mutation_p.S938T|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	957	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCTGGTTGACTCCTTGAAGGT	0.413000													119	778					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:170871082G>A	ENST00000392092.2	+	3	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	86	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q86Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612000													10	374					0	0	1	0	0
PCDHB11	0	broad.mit.edu	37	5	140581425	140581425	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:140581425C>T	ENST00000354757.3	+	1	2078	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A328V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		693					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A693V(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGTGGTGGCGTTGGCCTCG	0.692000													160	940					0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68692363	68692363	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:68692363T>A	ENST00000509734.1	+	15	2273	c.1595T>A	c.(1594-1596)aTa>aAa	p.I532K	RAD17_ENST00000354868.5_Missense_Mutation_p.I521K|RAD17_ENST00000361732.2_Missense_Mutation_p.I521K|RAD17_ENST00000282891.6_Missense_Mutation_p.I435K|RAD17_ENST00000358030.2_Missense_Mutation_p.I356K|RAD17_ENST00000521422.1_Missense_Mutation_p.I356K|RAD17_ENST00000305138.4_Missense_Mutation_p.I521K|RAD17_ENST00000380774.3_Missense_Mutation_p.I532K|RAD17_ENST00000354312.3_Missense_Mutation_p.I521K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000345306.6_Missense_Mutation_p.I521K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	532	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGGTTTCTAATAAATAAAAAG	0.343000								Other conserved DNA damage response genes					10	83					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2495532	2495532	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:2495532G>T	ENST00000397066.4	+	10	1091	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	335	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GCACCTGACCGTGGAGTGTGT	0.607000													51	336					8.00217e-19	8.68807e-19	1	1	0
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:22838561_22838563delAAG	ENST00000404138.1	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)del	p.K803del	ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													10	383	---	---	---	---					
C1orf122	127687	broad.mit.edu	37	1	38274674	38274674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:38274674delC	ENST00000373043.1	+	2	1779	c.73delC	c.(73-75)ccfs	p.P26fs	C1orf122_ENST00000373042.4_Frame_Shift_Del_p.P89fs|C1orf122_ENST00000446260.2_Frame_Shift_Del_p.R116fs|C1orf122_ENST00000525096.2_Intron|C1orf122_ENST00000468084.1_Frame_Shift_Del_p.P26fs			Q6ZSJ8	CA122_HUMAN	chromosome 1 open reading frame 122	89										kidney(2)|lung(2)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0393)				ACCTGGAGCGCCCCCCCAGCC	0.592													7	1060	---	---	---	---					
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs72406230		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)del	p.S65del	B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685													7	426	---	---	---	---					
DENND4B	9909	broad.mit.edu	37	1	153907304	153907306	+	In_Frame_Del	DEL	TGT	TGT	-	rs2275483	by1000genomes	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:153907304_153907306delTGT	ENST00000361217.4	-	18	3121_3123	c.2703_2705delACA	c.(2701-2706)cag>ca	p.QQ909del		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	909	Gln-rich.							p.Q789Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ctgctgctgctgttgctgctgct	0.645													8	445	---	---	---	---					
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:167385016_167385018delCCA	ENST00000367862.5	+	16	2472_2474	c.2237_2239delCCA	c.(2236-2241)tcc>t	p.ST746del	POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	734					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601													7	1343	---	---	---	---					
APOBEC4	403314	broad.mit.edu	37	1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-	rs141411396		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aaa>aa	p.KK363del	APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419													8	1168	---	---	---	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)del	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													8	628	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:207642044delC	ENST00000367057.3	+	3	807	c.618delC	c.(616-618)gtfs	p.V206fs	CR2_ENST00000458541.2_Frame_Shift_Del_p.V206fs|CR2_ENST00000367059.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Del_p.V206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGAGTGCTGTCCCCCCCACAT	0.398													7	1075	---	---	---	---					
ANKRD36C	400986	broad.mit.edu	37	2	96521448	96521449	+	Frame_Shift_Ins	INS	-	-	A	rs113448291		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:96521448_96521449insA	ENST00000456556.1	-	63	4644_4645	c.4560_4561insT	c.(4558-4563)gcagagfs	p.E1521fs	ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.E548fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.E772fs					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AACTTACTCTCAGCTTTAGAAA	0.406													9	288	---	---	---	---					
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)cafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473													7	424	---	---	---	---					
MARCH7	64844	broad.mit.edu	37	2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:160604680delT	ENST00000259050.3	+	5	1001	c.879delT	c.(877-879)acfs	p.T293fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393													10	362	---	---	---	---					
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)tfs	p.H565fs	ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron			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													10	101	---	---	---	---					
NGEF	25791	broad.mit.edu	37	2	233785144	233785146	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:233785144_233785146delCTC	ENST00000264051.3	-	5	954_956	c.676_678delGAG	c.(676-678)del	p.E226del	NGEF_ENST00000409079.1_In_Frame_Del_p.E134del|NGEF_ENST00000373552.4_In_Frame_Del_p.E134del	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	226	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGCTGGCCGGctcctcctcctcc	0.586													7	468	---	---	---	---					
RP11-325B23.2	0	broad.mit.edu	37	3	98031434	98031434	+	RNA	DEL	A	A	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333													12	157	---	---	---	---					
NEK11	79858	broad.mit.edu	37	3	130881254	130881254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:130881254delA	ENST00000383366.4	+	11	1258	c.965delA	c.(964-966)cafs	p.Q322fs	NEK11_ENST00000511262.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510769.1_Frame_Shift_Del_p.Q217fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.Q174fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.Q322fs	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	322					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATTTATAGGCAAAAAAGGATC	0.423													8	1820	---	---	---	---					
RP11-103G8.2	0	broad.mit.edu	37	3	150421899	150421900	+	RNA	INS	-	-	C	rs34009900	by1000genomes	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:150421899_150421900insC	ENST00000475393.1	+	0	20				RP11-103G8.2_ENST00000471093.1_RNA																							TTCTGTCCCTGCTCTTCAGCGT	0.545													18	11	---	---	---	---					
AC024560.3	0	broad.mit.edu	37	3	197346770	197346771	+	RNA	INS	-	-	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:197346770_197346771insA	ENST00000418868.1	-	0	685					NR_003266.2																						CTAAAAGAAAGAAAAAAAAAGG	0.406													8	146	---	---	---	---					
EVC	2121	broad.mit.edu	37	4	5809995	5809997	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:5809995_5809997delCAG	ENST00000382674.2	+	18	2813_2815	c.2629_2631delCAG	c.(2629-2631)del	p.Q880del	EVC_ENST00000264956.6_In_Frame_Del_p.Q880del			P57679	EVC_HUMAN	Ellis van Creveld syndrome	880					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TCTGCACGCCCAGCAGCAGCAGG	0.591													7	320	---	---	---	---					
NPNT	255743	broad.mit.edu	37	4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)del	p.P333del	NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522													7	575	---	---	---	---					
DDX60	55601	broad.mit.edu	37	4	169229302	169229302	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:169229302delA	ENST00000393743.3	-	4	410	c.119delT	c.(118-120)tgfs	p.L40fs		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	40							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCCATCAATCAAAAAAAATTC	0.308													7	207	---	---	---	---					
BRD9	65980	broad.mit.edu	37	5	889776	889777	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:889776_889777insA	ENST00000323510.4	-	1	37_38	c.38_39insT	c.(37-39)tctfs	p.S13fs	BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000483173.1_Intron			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	0							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACAATTTAAGGAAAAAAAAATT	0.446													8	480	---	---	---	---					
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)ggg>g	p.EG228del	IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													7	278	---	---	---	---					
BDP1	55814	broad.mit.edu	37	5	70766233	70766233	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:70766233delT	ENST00000358731.4	+	7	1194	c.931delT	c.(931-933)ttfs	p.F312fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	312	Myb-like.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AACAGATATGTTTTTTTTAGC	0.294													9	350	---	---	---	---					
CTD-2503O16.4	0	broad.mit.edu	37	5	74227325	74227325	+	RNA	DEL	C	C	-	rs146363494		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:74227325delC	ENST00000505200.1	-	0	335																											cagagaattgcttgaacccag	0.463													4	4	---	---	---	---					
UNC5A	90249	broad.mit.edu	37	5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agc>ag	p.ST371del	UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	371					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGACCTCAGCACCACCACCACC	0.645													7	865	---	---	---	---					
AACSP1	0	broad.mit.edu	37	5	178213643	178213643	+	RNA	DEL	T	T	-	rs111517974		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:178213643delT	ENST00000503486.2	-	0	647					NR_024035.1																						CCGGTCTGCCTTCCAGAGGCG	0.597													14	8	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38816440	38816440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:38816440delA	ENST00000359357.3	+	35	4665	c.4411delA	c.(4411-4413)aafs	p.K1472fs	DNAH8_ENST00000449981.2_Frame_Shift_Del_p.K1689fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.K1472fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCTCCATTTAAAAAAAATAT	0.343													7	312	---	---	---	---					
SLC17A5	26503	broad.mit.edu	37	6	74351590	74351590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:74351590delA	ENST00000355773.5	-	3	617	c.349delT	c.(349-351)atfs	p.Y117fs	SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.Y117fs	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	117					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGTAGCCATAAAAAAAGGAA	0.423													8	1083	---	---	---	---					
COL12A1	1303	broad.mit.edu	37	6	75899298	75899298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:75899298delT	ENST00000322507.8	-	6	937	c.628delA	c.(628-630)ttfs	p.I210fs	COL12A1_ENST00000483888.2_Frame_Shift_Del_p.I210fs|COL12A1_ENST00000416123.2_Frame_Shift_Del_p.I210fs|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	210	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTATATGGAATTTTTTTTATT	0.323													9	961	---	---	---	---					
SHPRH	257218	broad.mit.edu	37	6	146264834	146264836	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:146264834_146264836delATC	ENST00000367503.3	-	9	2079_2081	c.1681_1683delGAT	c.(1681-1683)del	p.D561del	SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	561					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAGTAAGGATCATCATCATCA	0.360													10	785	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146755219	146755221	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr6:146755219_146755221delGAG	ENST00000361719.2	+	9	3342_3344	c.2872_2874delGAG	c.(2872-2874)del	p.E961del	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.E961del|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	961					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)	TTACAACGTAGAGGAGGAGGAGG	0.586													7	992	---	---	---	---					
TWISTNB	221830	broad.mit.edu	37	7	19738111	19738113	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:19738111_19738113delTTC	ENST00000222567.5	-	4	913_915	c.843_845delGAA	c.(841-846)aaa>aa	p.KK281del		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGGTGCTTTTTCTTCTTCTTCT	0.433													9	3309	---	---	---	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs10951154	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)cac>ca	p.HR72del	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del	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	395	---	---	---	---					
ELN	2006	broad.mit.edu	37	7	73462847	73462849	+	In_Frame_Del	DEL	GCA	GCA	-	rs140742644		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:73462847_73462849delGCA	ENST00000252034.7	+	15	1159_1161	c.760_762delGCA	c.(760-762)del	p.A260del	ELN_ENST00000320492.7_In_Frame_Del_p.A224del|ELN_ENST00000320399.6_In_Frame_Del_p.A260del|ELN_ENST00000357036.5_In_Frame_Del_p.A265del|ELN_ENST00000380575.4_In_Frame_Del_p.A250del|ELN_ENST00000445912.1_In_Frame_Del_p.A260del|ELN_ENST00000414324.1_In_Frame_Del_p.A255del|ELN_ENST00000380576.5_In_Frame_Del_p.A260del|ELN_ENST00000380553.4_In_Frame_Del_p.A143del|ELN_ENST00000458204.1_In_Frame_Del_p.A250del|ELN_ENST00000380562.4_In_Frame_Del_p.A260del|ELN_ENST00000358929.4_In_Frame_Del_p.A260del|ELN_ENST00000380584.4_In_Frame_Del_p.A246del|ELN_ENST00000429192.1_In_Frame_Del_p.A265del	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	260	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGCCCCCAGgcagcagcagcag	0.621			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						7	779	---	---	---	---					
EIF4H	7458	broad.mit.edu	37	7	73609131	73609132	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:73609131_73609132insC	ENST00000265753.8	+	6	669_670	c.530_531insC	c.(529-531)gccfs	p.A177fs	EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Frame_Shift_Ins_p.A157fs	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	177					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						CGGCGAACAGGCCCCCCCATGG	0.569													8	702	---	---	---	---					
WASL	8976	broad.mit.edu	37	7	123332839	123332841	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:123332839_123332841delAGG	ENST00000223023.4	-	9	1239_1241	c.907_909delCCT	c.(907-909)del	p.P303del		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	303	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	p.P303A(1)		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						TTCCCCTagcaggaggaggagga	0.616													10	598	---	---	---	---					
TNPO3	23534	broad.mit.edu	37	7	128610259	128610259	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:128610259delG	ENST00000393245.1	-	20	3016	c.2643delC	c.(2641-2643)ccfs	p.P881fs	TNPO3_ENST00000471234.1_Frame_Shift_Del_p.P783fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.P881fs|TNPO3_ENST00000265388.5_Frame_Shift_Del_p.P847fs|TNPO3_ENST00000482320.1_Frame_Shift_Del_p.P781fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	847					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GTAGGGTATAGGGGGGGAGGC	0.483													10	1345	---	---	---	---					
C7orf55-LUC7L2	0	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:139094365_139094366delAG	ENST00000354926.4	+	7	1098_1099	c.744_745delAG	c.(742-747)gaagfs	p.EE248fs	LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs	NM_016019.3	NP_057103.2																					AACGAAGAGAAGAGAGAGAGAG	0.391													7	125	---	---	---	---					
SPIDR	23514	broad.mit.edu	37	8	48648055	48648057	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:48648055_48648057delGGT	ENST00000518074.1	+	19	2783_2785	c.2612_2614delGGT	c.(2611-2616)ggg>g	p.GW871del	SPIDR_ENST00000297423.4_3'UTR|SPIDR_ENST00000541342.1_3'UTR|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_3'UTR|SPIDR_ENST00000518060.1_3'UTR					scaffolding protein involved in DNA repair																		TGGCTGCAAGGGTGGTGGTGGTG	0.468													8	223	---	---	---	---					
CHD7	55636	broad.mit.edu	37	8	61769038	61769040	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:61769038_61769040delGGA	ENST00000423902.2	+	34	7678_7680	c.7199_7201delGGA	c.(7198-7203)cgg>c	p.RR2404del	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2404	Poly-Arg.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCTCGCCAGCGGAGGAGGAGGAG	0.512													8	167	---	---	---	---					
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													7	1530	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110539106	110539108	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:110539106_110539108delGCA	ENST00000378402.5	+	77	12682_12684	c.12578_12580delGCA	c.(12577-12582)ggc>g	p.GS4193del		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4193	Poly-Ser.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTagcagtggcagcagcagcag	0.433										HNSCC(38;0.096)			7	105	---	---	---	---					
XPA	7507	broad.mit.edu	37	9	100455962	100455964	+	In_Frame_Del	DEL	TTC	TTC	-	rs3176652		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr9:100455962_100455964delTTC	ENST00000375128.4	-	2	314_316	c.250_252delGAA	c.(250-252)del	p.E84del		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	84	Interaction with CEP164 and required for UV resistance.|Poly-Glu.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	p.E84*(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CAATTTTCTGTTCTTCTTCTTCT	0.340			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	550	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:61828745_61828747delGTG	ENST00000280772.1	-	37	12083_12085	c.11892_11894delCAC	c.(11890-11895)act>ac	p.TT3964del	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3964	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498													7	836	---	---	---	---					
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:105727547_105727549delAGA	ENST00000369755.3	+	1	589_591	c.44_46delAGA	c.(43-48)gag>g	p.EK15del	SLK_ENST00000335753.4_In_Frame_Del_p.EK15del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	15					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGGGAGCGAGAAGAAGAAGAA	0.448													10	613	---	---	---	---					
PPP1R32	220004	broad.mit.edu	37	11	61254528	61254528	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:61254528delA	ENST00000338608.2	+	10	1068	c.943delA	c.(943-945)aafs	p.K316fs	PPP1R32_ENST00000432063.2_Frame_Shift_Del_p.K296fs	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	316																	GACTGTGGGGAAAAAGGTGAG	0.577													9	1453	---	---	---	---					
SLC22A9	114571	broad.mit.edu	37	11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-993)gcafs	p.A331fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	331					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406													7	971	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:6711207_6711209delCTT	ENST00000309577.6	-	4	518_520	c.355_357delAAG	c.(355-357)del	p.K119del	CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537													13	330	---	---	---	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tac>ta	p.YF102del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													7	1490	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tac>ta	p.YG717del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	717						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645													8	448	---	---	---	---					
RP11-536C10.7	0	broad.mit.edu	37	14	19408019	19408019	+	RNA	DEL	A	A	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr14:19408019delA	ENST00000548050.1	-	0	279					NR_046104.1																						CTGTGGAGCCAAAAAAAAAAT	0.393													8	48	---	---	---	---					
ELMSAN1	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)del	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GTAGGgctgcctgctgctgctgc	0.650													7	196	---	---	---	---					
IGHV3-21	0	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	ACT	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr14:106691799_106691801delACT	ENST00000390607.2	-	0	301_303																											AGTATATGTAACTACTACTACTA	0.517													10	1555	---	---	---	---					
IGHV3-21	0	broad.mit.edu	37	14	106691994	106691995	+	RNA	INS	-	-	AC			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr14:106691994_106691995insAC	ENST00000390607.2	-	0	125																											ACAGAGAGACATTGGTCAGAAA	0.510													9	952	---	---	---	---					
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr15:45710840_45710841insT	ENST00000305560.6	+	7	2153_2154	c.2054_2055insT	c.(2053-2055)tttfs	p.F685fs	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	685						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCTG	0.361													9	539	---	---	---	---					
RP11-160C18.2	0	broad.mit.edu	37	15	79024621	79024622	+	RNA	INS	-	-	C	rs11072796	by1000genomes	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr15:79024621_79024622insC	ENST00000568337.1	+	0	202																											GAGGTGAGTGGTGGGTGGGGAG	0.460													7	239	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr15:89876828_89876830delTGC	ENST00000268124.5	-	2	489_491	c.156_158delGCA	c.(154-159)caa>ca	p.QQ54del	POLG_ENST00000442287.2_In_Frame_Del_p.QQ54del	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	54	Poly-Gln.				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgct	0.690								DNA polymerases (catalytic subunits)					7	140	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													10	979	---	---	---	---					
CNOT1	23019	broad.mit.edu	37	16	58577316	58577316	+	Frame_Shift_Del	DEL	A	A	-	rs34615461		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:58577316delA	ENST00000441024.2	-	31	4913	c.4629delT	c.(4627-4629)ttfs	p.F1543fs	CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000317147.5_Intron	NM_206999.2	NP_996882.1	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	0					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		aatataacagaaaaaaaaaaa	0.279													8	11	---	---	---	---					
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:69726420_69726422delCAG	ENST00000349945.1	+	14	3962_3964	c.2410_2412delCAG	c.(2410-2412)del	p.Q812del	NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473													16	390	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:8397095_8397097delCCT	ENST00000360416.3	-	32	4301_4303	c.4163_4165delAGG	c.(4162-4167)gcc>g	p.EA1388del	MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					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						TTCTTCCTGGCCTCCTCCTCCTC	0.596													7	292	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	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													12	359	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													26	250	---	---	---	---					
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)agfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393													8	820	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58050857	58050857	+	RNA	DEL	G	G	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:58050857delG	ENST00000586209.1	+	0	158																											TTTTTTTTTTGGCAGTTTTTA	0.423													7	120	---	---	---	---					
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:62291438_62291440delTCC	ENST00000258991.3	-	2	222_224	c.138_140delGGA	c.(136-141)gaa>ga	p.EE50del	TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del			Q8IWB9	TEX2_HUMAN	testis expressed 2	50	Poly-Glu.				signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552													7	616	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:66141017delC	ENST00000590019.1	-	0	70																											AAGATTTCTACAAAAAAAAAA	0.323													8	336	---	---	---	---					
KCTD1	284252	broad.mit.edu	37	18	24128262	24128264	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr18:24128262_24128264delTCC	ENST00000417602.1	-	1	236_238	c.237_239delGGA	c.(235-240)gac>ga	p.ED79del	KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000408011.3_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cccacctccgtcctcctcctcct	0.690													5	7	---	---	---	---					
ADNP2	22850	broad.mit.edu	37	18	77894260	77894261	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr18:77894260_77894261insC	ENST00000262198.4	+	4	1419_1420	c.964_965insC	c.(964-966)cccfs	p.P322fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGCT	0.644													8	509	---	---	---	---					
UBXN6	80700	broad.mit.edu	37	19	4454085	4454085	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:4454085delT	ENST00000301281.6	-	2	213	c.89delA	c.(88-90)agfs	p.K30fs	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	30						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667													11	1255	---	---	---	---					
GTF2F1	2962	broad.mit.edu	37	19	6381791	6381793	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:6381791_6381793delCTT	ENST00000394456.5	-	7	1215_1217	c.751_753delAAG	c.(751-753)del	p.K251del	GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	251					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CGTCTGAACCCTTCTTCTTCTTC	0.611													9	291	---	---	---	---					
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)ggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393													13	1059	---	---	---	---					
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:16640581_16640583delTGC	ENST00000546361.2	-	8	1156_1158	c.1005_1007delGCA	c.(1003-1008)caa>ca	p.QQ339del	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	339	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.670													12	224	---	---	---	---					
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:40900180_40900182delTCC	ENST00000324001.7	-	7	4347_4349	c.4077_4079delGGA	c.(4075-4080)gaa>ga	p.EE1359del	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing.		axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695													9	184	---	---	---	---					
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566													13	349	---	---	---	---					
ZNF548	147694	broad.mit.edu	37	19	57908592	57908592	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:57908592delT	ENST00000598895.1	+	3	444	c.228delT	c.(226-228)ccfs	p.P76fs	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000336128.7_Intron|ZNF548_ENST00000597400.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000366197.5_Intron			Q8NEK5	ZN548_HUMAN	zinc finger protein 548	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGTTACCCCTTTTTACCCAA	0.542													7	1798	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													7	41	---	---	---	---					
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	RNA	INS	-	-	T	rs144948060		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347													9	22	---	---	---	---					
C22orf43	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gcc>g	p.DA171del		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433													9	433	---	---	---	---					
ATF4	468	broad.mit.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(397-402)caccccfs	p.HP133fs	ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	133					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CTAATAAGCAGCCCCCCCAGAC	0.525													7	1825	---	---	---	---					
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcg>gc	p.AL139del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	139	Leucine-zipper (Potential).				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724													13	399	---	---	---	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:21627678_21627680delGAG	ENST00000425654.2	+	19	3025_3027	c.2545_2547delGAG	c.(2545-2547)del	p.E856del	CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													16	297	---	---	---	---					
MED14	9282	broad.mit.edu	37	X	40539348	40539348	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:40539348delT	ENST00000324817.1	-	21	2766	c.2648delA	c.(2647-2649)acfs	p.N883fs	MED14_ENST00000496531.1_Intron	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	883					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGAGTTTGTTGATGGCATT	0.463													58	420	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:70360648_70360650delCAG	ENST00000333646.6	+	42	6416_6418	c.6217_6219delCAG	c.(6217-6219)del	p.Q2079del	MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcaacagcaacagcagcagcagc	0.621			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						11	389	---	---	---	---					
