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
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													11	91					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17945947	17945947	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:17945947C>T	ENST00000458235.1	-	15	2091	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_ENST00000534444.1_Silent_p.P664P|JAK3_ENST00000527670.1_Silent_p.P664P	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	664	Protein kinase 1.				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						TGATGAAGGGCGGGCTCCCAT	0.637000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								9	190					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200008	128200008	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:128200008G>A	ENST00000341105.2	-	6	1628	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	GATA2_ENST00000487848.1_Silent_p.L433L|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.L419L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	433					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TGTCCAGCCAGGGCAGCTGCA	0.617000			Mis		AML(CML blast transformation)								10	277					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	433019	433019	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:433019C>T	ENST00000316418.5	+	11	1179	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	AHRR_ENST00000505113.1_Missense_Mutation_p.R361W|AHRR_ENST00000506456.1_Missense_Mutation_p.R217W|AHRR_ENST00000512529.1_Missense_Mutation_p.R207W	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCTGTGCCTCCGGGGTGGCCC	0.667000													4	90					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													8	127					0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10502908	10502908	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:10502908G>A	ENST00000226951.6	-	18	1351	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	CLNK_ENST00000515667.1_Missense_Mutation_p.A109V	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	371	SH2.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TGTCCCCAGGGCAAACTGCTG	0.458000													4	206					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72920223	72920223	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr9:72920223T>G	ENST00000361138.5	+	11	1583	c.1525T>G	c.(1525-1527)Tta>Gta	p.L509V		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	509	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ATCAAATGACTTAAGAGCCTT	0.308000													13	376					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85674140	85674140	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:85674140C>T	ENST00000316824.3	+	1	256	c.101C>T	c.(100-102)aCg>aTg	p.T34M		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	34					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GTTATGGAGACGCTGGACAAT	0.567000													13	330					0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026421	129026421	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:129026421A>G	ENST00000259241.6	-	2	564	c.551T>C	c.(550-552)cTa>cCa	p.L184P		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	184					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGGGTCTCGTAGCAGGGTGAT	0.622000													6	150					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507232	71507232	+	Missense_Mutation	SNP	C	C	G	rs113587125	by1000genomes	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:71507232C>G	ENST00000528685.1	+	3	329	c.329C>G	c.(328-330)cCg>cGg	p.P110R	FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron			Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	0										lung(1)	1						CACGCCCACCCGGGCCTGCAT	0.612000													22	571					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													4	227					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													7	484					0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276876	71276876	+	Silent	SNP	A	A	G	rs36179995		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:71276876A>G	ENST00000398531.1	+	1	268	c.243A>G	c.(241-243)aaA>aaG	p.K81K	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	81	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.K81K(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTCCAAAGGGGGCTGTG	0.682000													6	422					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729994	41729994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:41729994G>A	ENST00000242208.4	-	3	781	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Nonsense_Mutation_p.Q179*|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	179					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGTGCTTCTGCTGCTGGAAG	0.562000										TSP Lung(11;0.080)			19	297					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884243	38884243	+	Missense_Mutation	SNP	T	T	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr21:38884243T>A	ENST00000398956.2	+	10	1576	c.1576T>A	c.(1576-1578)Ttg>Atg	p.L526M	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.3_Silent_p.G558G|DYRK1A_ENST00000398960.2_Silent_p.G567G|DYRK1A_ENST00000455387.2_Silent_p.G339G			Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	526					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTCCTCTTGGTTGGTCAGGCA	0.428000													12	307					0	0	1	0	0
CRYZL1	9946	broad.mit.edu	37	21	34975784	34975784	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr21:34975784G>A	ENST00000361534.2	-	8	602	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	CRYZL1_ENST00000381540.3_Missense_Mutation_p.R131C|CRYZL1_ENST00000381554.3_Missense_Mutation_p.R131C|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Missense_Mutation_p.R116C|CRYZL1_ENST00000445393.1_Missense_Mutation_p.R93C			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	131					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						GTATAGGCACGCACTCCATCC	0.423000													5	347					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18927007	18927007	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:18927007C>T	ENST00000379942.4	-	21	2937	c.2272G>A	c.(2272-2274)Gtg>Atg	p.V758M		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	758					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCACAGTCCACGTCACCATGG	0.463000													6	941					0	0	1	0	0
AQP12A	375318	broad.mit.edu	37	2	241631577	241631577	+	Silent	SNP	G	G	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:241631577G>C	ENST00000429564.1	+	2	309	c.246G>C	c.(244-246)gcG>gcC	p.A82A	AQP12A_ENST00000337801.4_Silent_p.A70A			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	70						integral to membrane	transporter activity	p.A70A(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TCTTCCTGGCGCACGGGGTCA	0.667000													6	231					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662000													5	79					0.000602214	0.00063419	1	1	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	rs75371407		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627000													9	917					0	0	1	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190779	39190779	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:39190779T>C	ENST00000344363.5	-	1	328	c.295A>G	c.(295-297)Agt>Ggt	p.S99G		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	109						extracellular region|keratin filament	structural constituent of epidermis	p.S99G(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGCTCCACTGCTGCCCTCC	0.652000													6	121					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644779	53644779	+	Silent	SNP	G	G	A	rs77716783	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:53644779G>A	ENST00000452676.2	-	5	1731	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.C435C|ZNF347_ENST00000334197.7_Silent_p.C434C	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGGCTTTGCCGCACTCATTAC	0.423000													23	532					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	106					0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238075	69238075	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:69238075G>A	ENST00000310673.3	+	2	356	c.202G>A	c.(202-204)Gca>Aca	p.A68T	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	68					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TTATTCTATAGCATCAAAGGG	0.368000													13	366					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													6	370					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:53856761T>C	ENST00000458035.1	+	4	2950	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348000													4	122					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26683776	26683776	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:26683776C>T	ENST00000272371.2	-	44	5782	c.5656G>A	c.(5656-5658)Gtc>Atc	p.V1886I	OTOF_ENST00000339598.3_Missense_Mutation_p.V1119I|OTOF_ENST00000402415.3_Missense_Mutation_p.V1196I|OTOF_ENST00000338581.6_Missense_Mutation_p.V1119I|OTOF_ENST00000403946.3_Missense_Mutation_p.V1886I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1886			V -> A (in dbSNP:rs45442103).		cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCTTTGACGCGCTTTTGC	0.647000													8	199					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098772	11098772	+	RNA	SNP	C	C	T	rs75545872		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr21:11098772C>T	ENST00000470054.1	-	0	153									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccgctcaggccgccctcctaa	0.622000													8	580					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85571180	85571180	+	Missense_Mutation	SNP	G	G	A	rs149307146	by1000genomes	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:85571180G>A	ENST00000295802.4	-	9	1587	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	RETSAT_ENST00000457495.2_Missense_Mutation_p.S431F|RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000475624.2_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	492					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.S492F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCCACAAAGGAGTTTTTGAA	0.537000													6	448					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158716310	158716310	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:158716310G>A	ENST00000407559.3	+	17	2301	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	715										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACTGTTTGCCGGAACAGCGCA	0.502000													5	397					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108032402	108032402	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:108032402C>T	ENST00000278612.8	-	17	3516	c.3411G>A	c.(3409-3411)cgG>cgA	p.R1137R		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1137					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.R1137R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGTGGTATGCCGGCTAATGG	0.383000													7	307					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													6	48					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941336	22941336	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:22941336T>C	ENST00000397104.3	-	5	1101	c.1102A>G	c.(1102-1104)Agc>Ggc	p.S368G	ZNF99_ENST00000596209.1_Missense_Mutation_p.S459G					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCTGCATTCTTCA	0.358000													4	199					0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249558	71249558	+	Missense_Mutation	SNP	T	T	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:71249558T>A	ENST00000398534.3	+	1	488	c.457T>A	c.(457-459)Tgc>Agc	p.C153S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	153	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TAAGCCCTGCTGCTGCTCTTC	0.602000													10	1069					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169622382	169622382	+	Silent	SNP	G	G	A	rs151152352		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:169622382G>A	ENST00000366787.3	-	20	3432	c.3183C>T	c.(3181-3183)tcC>tcT	p.S1061S	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1061	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGACACGCCGGAGTAGCCAT	0.637000													6	105					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42188061	42188061	+	Missense_Mutation	SNP	T	T	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:42188061T>A	ENST00000395925.3	-	3	215	c.131A>T	c.(130-132)gAa>gTa	p.E44V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	44					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCCAGGACTTTCATCCTCTAA	0.403000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				7	260					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62257096	62257096	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:62257096G>T	ENST00000474889.1	+	21	3425	c.3048G>T	c.(3046-3048)agG>agT	p.R1016S	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R987S|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1016	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGAATGAAAGGGTAGTGATCC	0.478000													10	225					0.000673444	0.000702981	1	1	0
ERLIN1	10613	broad.mit.edu	37	10	101911917	101911917	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr10:101911917C>T	ENST00000421367.2	-	11	3725	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	ERLIN1_ENST00000407654.3_Missense_Mutation_p.V340I	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	338					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		TTTTGGATGACGTTCTCTCCA	0.458000													6	132					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102516473	102516473	+	RNA	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:102516473G>A	ENST00000557932.1	+	0	1421																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ATCCTAGGGGGCTCCATGACA	0.642000													17	325					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15931828	15931828	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:15931828C>T	ENST00000338282.6	-	2	388	c.282G>A	c.(280-282)acG>acA	p.T94T	MYH11_ENST00000300036.5_Silent_p.T94T|MYH11_ENST00000576790.1_Silent_p.T94T|MYH11_ENST00000452625.2_Silent_p.T94T|MYH11_ENST00000396324.3_Silent_p.T94T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	94	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGTTGAGGCACGTCAGCTCCG	0.547000			T	CBFB	AML								16	411					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168310293	168310293	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:168310293G>A	ENST00000519560.1	-	5	881	c.462C>T	c.(460-462)cgC>cgT	p.R154R	SLIT3_ENST00000332966.8_Silent_p.R154R|SLIT3_ENST00000404867.3_Silent_p.R154R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	154					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGTGATGCCGCGGAACGCCT	0.502000													7	240					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161585	90161585	+	RNA	SNP	C	C	A	rs3812542	by1000genomes	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:90161585C>A	ENST00000564451.1	+	0	938				TUBB8P7_ENST00000567960.1_RNA																							GACGCTACACCGAAGGCGCGG	0.597000													4	161					1.42536e-11	1.60016e-11	1	1	0
TTLL2	83887	broad.mit.edu	37	6	167753613	167753613	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:167753613G>A	ENST00000239587.5	+	3	313	c.225G>A	c.(223-225)gcG>gcA	p.A75A		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	75					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.A75A(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATTTGATGGCGGAAGATGAAC	0.507000													5	286					0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49245081	49245081	+	Missense_Mutation	SNP	G	G	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:49245081G>C	ENST00000332955.2	-	8	1266	c.719C>G	c.(718-720)tCc>tGc	p.S240C		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	240	Ig-like C2-type.				fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGCTGGGCTGGAATTCACAGA	0.607000													8	173					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836697	23836697	+	Silent	SNP	T	T	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:23836697T>G	ENST00000359788.4	-	4	1206	c.1038A>C	c.(1036-1038)ggA>ggC	p.G346G	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	346					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAAAAGCTTTTCCACATTCTT	0.383000													5	255					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	121000776	121000776	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:121000776C>T	ENST00000325954.4	+	8	1618	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	RNF10_ENST00000413266.2_Missense_Mutation_p.A386V	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	386					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGGGATTGGCCGGAAGCAGA	0.542000													5	221					0	0	1	0	0
HMGN2P46	0	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	G	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:45848224G>T	ENST00000409454.1	+	0	1219																											TGCAGATTTTGTTTAGCTTTT	0.318000													10	62					0.000219431	0.000233146	1	1	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													7	480					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179545648	179545648	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:179545648C>T	ENST00000393371.2	-	9	1340	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	RASGEF1C_ENST00000361132.4_Silent_p.A348A|RASGEF1C_ENST00000522500.1_Silent_p.A197A			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	348	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGTGGGCCGCCCCGCGCA	0.667000													10	298					0	0	1	0	0
RP11-266K4.9	0	broad.mit.edu	37	12	8388326	8388326	+	RNA	SNP	G	G	C	rs113732517		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:8388326G>C	ENST00000304751.9	+	0	316				FAM86FP_ENST00000427893.2_RNA																							CGAGCCTCCCGAGGGCTGCAC	0.577000													4	160					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16952952	16952952	+	RNA	SNP	G	G	A	rs1762946	by1000genomes	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:16952952G>A	ENST00000412962.1	-	0	664																											TCTGCCCTCAGCTTGGTCACG	0.622000													13	121					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77423797	77423797	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:77423797C>T	ENST00000322886.7	-	10	1933	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A	E2F7_ENST00000416496.2_Silent_p.A566A	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	566					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGACCCTGACGCTGGTCCCT	0.582000													12	372					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5348537	5348537	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:5348537C>T	ENST00000399537.4	-	29	9017	c.8669G>A	c.(8668-8670)cGg>cAg	p.R2890Q	TNRC18_ENST00000430969.1_Missense_Mutation_p.R2890Q			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2890	BAH.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCTGGAGACCCGCAGGGCCGC	0.692000													4	65					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	232					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000													7	475					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091520	143091520	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:143091520C>A	ENST00000367603.2	-	5	5098	c.4356G>T	c.(4354-4356)atG>atT	p.M1452I	HIVEP2_ENST00000367604.1_Missense_Mutation_p.M1452I|HIVEP2_ENST00000012134.2_Missense_Mutation_p.M1452I	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCTTGGTTTCCATGAAGAGCT	0.512000													7	252					0.00198382	0.00203512	1	1	0
GEN1	348654	broad.mit.edu	37	2	17963200	17963200	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:17963200C>T	ENST00000381254.2	+	14	2935	c.2721C>T	c.(2719-2721)agC>agT	p.S907S	GEN1_ENST00000317402.7_Silent_p.S907S|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	907					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATTCCAAAGCACTTGAAATT	0.348000								Homologous recombination					6	172					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													6	241					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93088643	93088643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:93088643C>T	ENST00000298050.3	+	3	236	c.136C>T	c.(136-138)Cga>Tga	p.R46*	CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Nonsense_Mutation_p.R46*	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	46										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTTGGAGACACGATTAGATCT	0.388000													11	189					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192175	125192175	+	Missense_Mutation	SNP	A	A	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:125192175A>T	ENST00000431078.1	+	5	1008	c.644A>T	c.(643-645)gAt>gTt	p.D215V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	215	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGCAAGGAGATGGGGTCCTG	0.507000													8	204					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28909687	28909687	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:28909687G>A	ENST00000395503.4	+	14	1863	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	ATP2A1_ENST00000536376.1_Missense_Mutation_p.R435H|ATP2A1_ENST00000357084.3_Missense_Mutation_p.R560H	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	560					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GACACCCTGCGCTGCTTGGCC	0.637000													12	230					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			5	125					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000													6	359					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629152	1629152	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:1629152C>A	ENST00000399685.1	-	1	541	c.464G>T	c.(463-465)tGc>tTc	p.C155F		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	155	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627000													7	923					1.12685e-05	1.20807e-05	1	1	0
SRGAP3	9901	broad.mit.edu	37	3	9036070	9036070	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:9036070C>T	ENST00000383836.3	-	19	2792	c.2365G>A	c.(2365-2367)Gtg>Atg	p.V789M	SRGAP3_ENST00000360413.3_Missense_Mutation_p.V765M	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	789					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGTCCATCCACGCCGTTGTGC	0.577000			T	RAF1	pilocytic astrocytoma								12	329					0	0	1	0	0
NELFE	7936	broad.mit.edu	37	6	31922356	31922356	+	Silent	SNP	G	G	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:31922356G>T	ENST00000375429.3	-	7	944	c.718C>A	c.(718-720)Cga>Aga	p.R240R	NELFE_ENST00000444811.2_Silent_p.R210R|NELFE_ENST00000375425.5_Silent_p.R247R	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		tctcggtctcggtctcgatcc	0.572000													6	171					0.00621372	0.00626637	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													6	195					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68549244	68549244	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:68549244G>A	ENST00000265641.5	-	11	1501	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y	CPT1A_ENST00000376618.2_Silent_p.Y449Y|CPT1A_ENST00000540367.1_Silent_p.Y449Y|CPT1A_ENST00000539743.1_Silent_p.Y449Y	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	449					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTACCTGTCGTAACATCGGC	0.473000													25	551					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100222206	100222206	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:100222206C>T	ENST00000231461.5	-	3	654	c.344G>A	c.(343-345)cGc>cAc	p.R115H	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.R115H|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	115					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TAGTGTCCGGCGCCTGTCAAG	0.433000													10	358					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836724	23836724	+	Silent	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:23836724T>C	ENST00000359788.4	-	4	1179	c.1011A>G	c.(1009-1011)gaA>gaG	p.E337E	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	337					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTAGGGTTTTTCTCCAGTAT	0.378000													6	244					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63054530	63054530	+	Silent	SNP	G	G	A	rs138708550		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:63054530G>A	ENST00000561311.1	+	38	5069	c.4839G>A	c.(4837-4839)tcG>tcA	p.S1613S	TLN2_ENST00000306829.6_Silent_p.S1613S|TLN2_ENST00000472902.1_Silent_p.S6S			Q9Y4G6	TLN2_HUMAN	talin 2	1613					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAGTTCATCGTACCTCATTC	0.542000													23	605					0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115560805	115560805	+	Missense_Mutation	SNP	G	G	A	rs117984283	by1000genomes	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:115560805G>A	ENST00000490035.1	-	6	1305	c.806C>T	c.(805-807)aCg>aTg	p.T269M	LSAMP_ENST00000539563.1_Missense_Mutation_p.T266M|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	269	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTGGCCCTCCGTGCTCTTAAT	0.483000													5	218					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:12155757C>A	ENST00000602107.1	-	5	599	c.600G>T	c.(598-600)agG>agT	p.R200S	CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423000													6	513					2.0095e-06	2.17391e-06	1	1	0
SESN2	83667	broad.mit.edu	37	1	28595710	28595710	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:28595710G>A	ENST00000253063.3	+	2	428	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	36					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGAGAGCCGGGCTCGGCGA	0.557000													10	292					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21631113	21631113	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:21631113C>T	ENST00000328843.6	+	14	2616	c.2585C>T	c.(2584-2586)aCc>aTc	p.T862I	DNAH11_ENST00000409508.3_Missense_Mutation_p.T862I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	862	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCAGCCTTCACCTTGGAGGAC	0.502000									Kartagener syndrome				9	181					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76825927	76825927	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:76825927A>T	ENST00000248598.5	-	2	1021	c.989T>A	c.(988-990)tTa>tAa	p.L330*	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	330	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ACCAACGTGTAAACGATATTT	0.358000													13	417					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30978877	30978877	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:30978877G>A	ENST00000262519.8	+	10	3424	c.2738G>A	c.(2737-2739)cGt>cAt	p.R913H		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	913	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AAGAGGCCTCGTCCCTCCACT	0.557000													23	454					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43939401	43939401	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:43939401A>G	ENST00000282406.4	+	15	2449	c.2339A>G	c.(2338-2340)gAt>gGt	p.D780G		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	780	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGACTGCAGATTCTCCCAAT	0.418000													12	343					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627000													6	846					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185196	130185196	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:130185196G>A	ENST00000422113.2	-	2	453	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	43						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TAGGTGGGCAGCAAGGAAAAC	0.557000													10	185					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507261	71507261	+	Missense_Mutation	SNP	A	A	G	rs111708284	by1000genomes	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:71507261A>G	ENST00000528685.1	+	3	358	c.358A>G	c.(358-360)Aca>Gca	p.T120A	FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron			Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	0										lung(1)	1						AGCTGTCCCTACAGGACTCCA	0.627000													7	394					0	0	1	0	0
AQP12A	375318	broad.mit.edu	37	2	241631584	241631584	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:241631584G>T	ENST00000429564.1	+	2	316	c.253G>T	c.(253-255)Gtc>Ttc	p.V85F	AQP12A_ENST00000337801.4_Missense_Mutation_p.V73F			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	73						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCGCACGGGGTCACCTTGGA	0.667000													5	237					2.4624e-09	2.7132e-09	1	1	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													4	136					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50128699	50128699	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:50128699T>C	ENST00000299192.7	+	12	1785	c.1594T>C	c.(1594-1596)Tcc>Ccc	p.S532P	HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Missense_Mutation_p.S446P	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	532							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CAAGAACATTTCCCAGGTAAG	0.308000													14	457					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													5	117					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													13	81					0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19200968	19200969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:19200968_19200969insC	ENST00000375341.3	-	14	1824_1825	c.1567_1568insG	c.(1567-1569)ccgfs	p.P523fs	ALDH4A1_ENST00000290597.5_Frame_Shift_Ins_p.P523fs|ALDH4A1_ENST00000538839.1_Frame_Shift_Ins_p.P472fs|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Frame_Shift_Ins_p.P463fs	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	523					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AGAGGCTCGGGCCCCCCCAAAG	0.599													7	385	---	---	---	---					
MAP3K6	9064	broad.mit.edu	37	1	27688114	27688115	+	Frame_Shift_Ins	INS	-	-	GC	rs142955447		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:27688114_27688115insGC	ENST00000374040.3	-	10	1818_1819	c.1558_1559insGC	c.(1558-1560)ggtfs	p.G520fs	MAP3K6_ENST00000357582.2_Frame_Shift_Ins_p.G528fs|MAP3K6_ENST00000493901.1_Frame_Shift_Ins_p.G528fs			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	528					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCAGGACCAGCACCTGCAGG	0.629													15	244	---	---	---	---					
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:38078467_38078469delTGC	ENST00000356545.2	-	8	1537_1539	c.750_752delGCA	c.(748-753)caa>ca	p.QQ250del	RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621													7	638	---	---	---	---					
SRSF11	9295	broad.mit.edu	37	1	70687376	70687377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:70687376_70687377insG	ENST00000370950.3	+	2	139_140	c.57_58insG	c.(55-60)ccgtggfs	p.W20fs	SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.W20fs			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	20	Poly-Gly.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.P19P(1)		large_intestine(3)|ovary(2)|skin(1)	6						GCGGCGGGCCcggtggcggagg	0.649													8	462	---	---	---	---					
ODF2L	57489	broad.mit.edu	37	1	86826141	86826142	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:86826141_86826142insT	ENST00000359242.3	-	12	1502_1503	c.1221_1222insA	c.(1219-1224)aaagaafs	p.E408fs	ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.E408fs|ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.E248fs	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	408						centrosome		p.K378fs*22(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		AGGGTTTTCTGTTTTTTTTCTA	0.287													7	278	---	---	---	---					
RPTN	126638	broad.mit.edu	37	1	152127917	152127920	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:152127917_152127920delTGTC	ENST00000316073.3	-	3	1719_1722	c.1655_1658delGACA	c.(1654-1659)aafs	p.RQ552fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	552	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.505													7	2844	---	---	---	---					
GPATCH4	54865	broad.mit.edu	37	1	156565504	156565504	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:156565504delT	ENST00000368232.4	-	8	746	c.614delA	c.(613-615)agfs	p.K208fs	GPATCH4_ENST00000438976.2_Frame_Shift_Del_p.K213fs|GPATCH4_ENST00000497287.1_5'UTR	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	208						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCTTTTTCTTTTTTTTGGG	0.537													8	371	---	---	---	---					
CH17-132F21.1	0	broad.mit.edu	37	2	90458648	90458648	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:90458648delT	ENST00000603238.1	+	2	324	c.324delT	c.(322-324)tgfs	p.108fs																								CTTATTACTGTCAACAGAGTG	0.512													9	2796	---	---	---	---					
COBLL1	22837	broad.mit.edu	37	2	165551295	165551296	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:165551295_165551296insA	ENST00000375458.2	-	11	2827_2828	c.2606_2607insT	c.(2605-2607)tcafs	p.S869fs	COBLL1_ENST00000342193.4_Frame_Shift_Ins_p.S907fs|COBLL1_ENST00000194871.6_Frame_Shift_Ins_p.S974fs|COBLL1_ENST00000392717.2_Frame_Shift_Ins_p.S945fs|COBLL1_ENST00000409184.3_Frame_Shift_Ins_p.S907fs	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	945										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCTGCATCTGCAAAAAAAAAGA	0.421													9	179	---	---	---	---					
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gcfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448													7	1511	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													8	858	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggfs	p.G335fs	MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582													7	608	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400814	195400815	+	RNA	INS	-	-	TT			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:195400814_195400815insTT	ENST00000445430.1	+	0	1410_1411																											ACCTGGTTGTCTGGTCAGGCAT	0.574													8	167	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389361	1389362	+	Frame_Shift_Del	DEL	CA	CA	-	rs71299249		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:1389361_1389362delCA	ENST00000324803.4	+	1	4022_4023	c.1062_1063delCA	c.(1060-1065)ctcafs	p.LT354fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	354					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.653													7	1646	---	---	---	---					
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:15995680delT	ENST00000505450.1	-	15	2282	c.1670delA	c.(1669-1671)atfs	p.N557fs	PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428													9	328	---	---	---	---					
HERC5	51191	broad.mit.edu	37	4	89381265	89381266	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:89381265_89381266insA	ENST00000264350.3	+	3	562_563	c.409_410insA	c.(409-411)aaafs	p.K137fs	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	137					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CATTTTACAAGAAAAAAAAATA	0.272													7	174	---	---	---	---					
RRH	10692	broad.mit.edu	37	4	110756541	110756541	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:110756541delT	ENST00000317735.4	+	3	351	c.317delT	c.(316-318)atfs	p.I106fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	106					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGATTGAATATTTTTTTTGGA	0.393													7	339	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													9	392	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:13919383delT	ENST00000265104.4	-	7	981	c.877delA	c.(877-879)gafs	p.R293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome				8	931	---	---	---	---					
SYNGAP1	8831	broad.mit.edu	37	6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)del	p.H966del	SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645													7	613	---	---	---	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctc>ct	p.LC138del				Q99750	MDFI_HUMAN	MyoD family inhibitor	199					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													7	412	---	---	---	---					
GLTSCR1L	23506	broad.mit.edu	37	6	42789764	42789766	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:42789764_42789766delGAT	ENST00000314073.5	+	3	180_182	c.4_6delGAT	c.(4-6)del	p.D6del	GLTSCR1L_ENST00000394168.1_In_Frame_Del_p.D6del					GLTSCR1-like																		AGTTGTCATGGATGATGATGATG	0.369													8	425	---	---	---	---					
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)ggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493													14	1686	---	---	---	---					
MED23	9439	broad.mit.edu	37	6	131919846	131919846	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:131919846delT	ENST00000403834.3	-	19	2467	c.2294delA	c.(2293-2295)atfs	p.N765fs	MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368068.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	759					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.N759fs*7(1)|p.N765fs*7(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTCCTCCACATTTTTTTTCAG	0.378													7	406	---	---	---	---					
AHI1	54806	broad.mit.edu	37	6	135784284	135784284	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:135784284delT	ENST00000367800.4	-	6	1126	c.910delA	c.(910-912)cafs	p.T304fs	AHI1_ENST00000457866.2_Frame_Shift_Del_p.T304fs|AHI1_ENST00000327035.6_Frame_Shift_Del_p.T304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	304						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTCTTTTTTGTTTTTTTTGGT	0.308													7	206	---	---	---	---					
PPP1R17	10842	broad.mit.edu	37	7	31735179	31735179	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:31735179delA	ENST00000342032.3	+	3	807	c.179delA	c.(178-180)cafs	p.Q60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	60					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											GAGTCAGACCAAAAAAAACCA	0.438													8	609	---	---	---	---					
DPY19L2P2	0	broad.mit.edu	37	7	102883498	102883498	+	RNA	DEL	A	A	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:102883498delA	ENST00000312132.4	-	0	2616																											GTACCACTGTAAAAAAAAAAA	0.284													7	53	---	---	---	---					
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr9:139734633_139734635delAGA	ENST00000371675.3	+	14	2498_2500	c.1613_1615delAGA	c.(1612-1617)gag>g	p.EK538del	RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del					RAB, member RAS oncogene family-like 6																		CCCTCTaaggagaagaagaagaa	0.571													15	276	---	---	---	---					
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:6867223_6867225delTTC	ENST00000299454.4	+	1	341_343	c.310_312delTTC	c.(310-312)del	p.F108del	OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517													7	423	---	---	---	---					
PSMA1	5682	broad.mit.edu	37	11	14529252	14529254	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:14529252_14529254delCAT	ENST00000530457.1	-	9	1138_1140	c.608_610delATG	c.(607-612)gtg>g	p.DV203del	PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000396394.2_In_Frame_Del_p.DV228del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000418988.2_In_Frame_Del_p.DV234del|PSMA1_ENST00000396393.1_In_Frame_Del_p.DV228del			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATGGAGACACATCATCATCATC	0.360													10	437	---	---	---	---					
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:19901475_19901477delAGC	ENST00000396085.1	+	5	933_935	c.572_574delAGC	c.(571-576)aag>a	p.KQ191del	NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	191	CH.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611													7	407	---	---	---	---					
HMGB1	3146	broad.mit.edu	37	13	31035498	31035500	+	In_Frame_Del	DEL	TCA	TCA	-	rs56178645		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr13:31035498_31035500delTCA	ENST00000405805.1	-	5	1582_1584	c.642_644delTGA	c.(640-645)gaa>ga	p.DE214del	HMGB1_ENST00000339872.4_In_Frame_Del_p.DE214del|HMGB1_ENST00000341423.5_In_Frame_Del_p.DE214del|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000399494.1_In_Frame_Del_p.DE214del			P09429	HMGB1_HUMAN	high mobility group box 1	214	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		ACCAACTTATTCATCATCAtcat	0.369													7	106	---	---	---	---					
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)tafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418													11	222	---	---	---	---					
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaaggafs	p.G728fs	RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332													7	132	---	---	---	---					
DYNC1H1	1778	broad.mit.edu	37	14	102445788	102445788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr14:102445788delT	ENST00000360184.4	+	3	641	c.477delT	c.(475-477)ccfs	p.P159fs		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	159	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGTGGCTCCTTTTTTTAAGT	0.408													7	458	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23283336	23283337	+	RNA	INS	-	-	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:23283336_23283337insT	ENST00000560464.1	-	0	5097																											CTTCCCAATGAGAATCTCTGAA	0.426													10	80	---	---	---	---					
UBE2Q2P1	0	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													10	26	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-	rs140846731		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)del	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424													8	233	---	---	---	---					
TUBB8P7	0	broad.mit.edu	37	16	90161966	90161966	+	RNA	DEL	T	T	-	rs56265310		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:90161966delT	ENST00000567960.1	+	0	702				TUBB8P7_ENST00000564451.1_RNA																							CTACCATGAGTTGGGGTCACC	0.542													8	96	---	---	---	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgt>cg	p.RR591del	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547													7	1034	---	---	---	---					
NUFIP2	57532	broad.mit.edu	37	17	27620932	27620934	+	In_Frame_Del	DEL	TGG	TGG	-	rs1054145	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:27620932_27620934delTGG	ENST00000225388.4	-	1	202_204	c.144_146delCCA	c.(142-147)cat>ca	p.HH50del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.HH50del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	50	His-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			Ctggtgatgatggtggtggtggt	0.591													10	515	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:61899155_61899157delCTC	ENST00000427159.2	-	15	2167_2169	c.1522_1524delGAG	c.(1522-1524)del	p.E508del		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													8	709	---	---	---	---					
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:39898948_39898950delCAC	ENST00000597629.1	+	2	682_684	c.608_610delCAC	c.(607-612)tca>t	p.SP203del	ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del			P26651	TTP_HUMAN	ZFP36 ring finger protein	197					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685													8	1057	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													17	400	---	---	---	---					
LIG1	3978	broad.mit.edu	37	19	48665600	48665600	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:48665600delA	ENST00000263274.7	-	3	445	c.26delT	c.(25-27)tcfs	p.F9fs	LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000427526.2_Intron|LIG1_ENST00000536218.1_Frame_Shift_Del_p.F9fs	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	9					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTGGGGTGGAAAAATGACCT	0.453								Nucleotide excision repair (NER)					7	532	---	---	---	---					
FLT3LG	0	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)del	p.L20del	FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621													7	306	---	---	---	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)del	p.E306del	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532													8	241	---	---	---	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr22:30742328_30742330delCTG	ENST00000215793.7	-	3	518_520	c.364_366delCAG	c.(364-366)del	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													11	432	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gcc>g	p.EA1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	302	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr22:38120029_38120031delCCT	ENST00000406386.3	+	7	1721_1723	c.1466_1468delCCT	c.(1465-1470)gcc>g	p.AS489del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	489					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													14	432	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr22:42262949_42262951delGCA	ENST00000361204.4	+	2	369_371	c.203_205delGCA	c.(202-207)ggc>g	p.GS68del		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	68	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567													15	356	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)atfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													7	501	---	---	---	---					
TAF1	6872	broad.mit.edu	37	X	70603000	70603000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:70603000delA	ENST00000449580.1	+	12	1981	c.1930delA	c.(1930-1932)aafs	p.K646fs	TAF1_ENST00000373790.4_Frame_Shift_Del_p.K646fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.K667fs|TAF1_ENST00000276072.3_Frame_Shift_Del_p.K667fs			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	646					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAAGCACATCAAAAAAAAGGC	0.408													10	273	---	---	---	---					
TSIX	0	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	AC	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCACACATGACACACACACAC	0.470													9	430	---	---	---	---					
ARMCX3	51566	broad.mit.edu	37	X	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tct>tc	p.SD61del	ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	61						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517													7	803	---	---	---	---					
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:119694117_119694119delGAG	ENST00000371322.5	-	1	436_438	c.375_377delCTC	c.(373-378)tca>tc	p.SS127del	CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	145	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488													11	238	---	---	---	---