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
GSG1L	146395	broad.mit.edu	37	16	27974490	27974490	+	Silent	SNP	C	C	T			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr16:27974490C>T	ENST00000447459.2	-	2	468	c.384G>A	c.(382-384)ccG>ccA	p.P128P	GSG1L_ENST00000380898.2_5'UTR|GSG1L_ENST00000395724.3_Silent_p.P128P	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	128						integral to membrane		p.P128P(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TCTCCGATGCCGGGGCCAGGT	0.542000													8	17					0	0	2.17888e-05	0	0
NBPF9	400818	broad.mit.edu	37	1	144815953	144815953	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr1:144815953A>G	ENST00000440491.2	+	4	550	c.550A>G	c.(550-552)Aat>Gat	p.N184D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.N184D|NBPF9_ENST00000281815.8_5'UTR	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9									p.N184D(2)		NS(2)|prostate(1)	3						CAACGATGACAATGAAGATGT	0.423000													15	72					0	0	2.31682e-05	0	0
SOHLH1	402381	broad.mit.edu	37	9	138590185	138590185	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr9:138590185T>A	ENST00000298466.5	-	3	395	c.335A>T	c.(334-336)gAg>gTg	p.E112V	SOHLH1_ENST00000425225.1_Missense_Mutation_p.E112V	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	112					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AGCGTGCTGCTCCTGACTGGG	0.642000													27	32					0	0	0.000227799	0	0
SNW1	22938	broad.mit.edu	37	14	78187103	78187103	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr14:78187103C>A	ENST00000261531.7	-	12	1261	c.1199G>T	c.(1198-1200)cGg>cTg	p.R400L	SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_3'UTR|SNW1_ENST00000554775.1_Missense_Mutation_p.R238L|SNW1_ENST00000555761.1_Missense_Mutation_p.R400L	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	400					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATTGGAAGTCCGAGGATTAGG	0.388000													36	53					2.75727e-19	1.39198e-17	0.000159656	1	0
DNAH9	1770	broad.mit.edu	37	17	11554609	11554609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr17:11554609C>T	ENST00000262442.3	+	13	2389	c.2321C>T	c.(2320-2322)gCa>gTa	p.A774V	DNAH9_ENST00000454412.2_Missense_Mutation_p.A774V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	774	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCCTCAGAGCAGCAGAGGAG	0.423000													12	32					0	0	6.40141e-05	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183406	11183406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr12:11183406C>T	ENST00000390675.2	-	1	600	c.529G>A	c.(529-531)Gcg>Acg	p.A177T	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	177					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						GTTACAGTCGCATCTGAAAGG	0.393000													6	58					0	0	2.17888e-05	0	0
SCAP	22937	broad.mit.edu	37	3	47462468	47462468	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr3:47462468T>C	ENST00000265565.5	-	11	1709	c.1297A>G	c.(1297-1299)Atg>Gtg	p.M433V	SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000545718.1_Missense_Mutation_p.M41V|SCAP_ENST00000441517.2_Missense_Mutation_p.M178V	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	433	SSD.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AAAAACAGCATCTGAAGGAAG	0.592000											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	32					0	0	0.000147903	0	0
MED22	6837	broad.mit.edu	37	9	136210997	136210997	+	Silent	SNP	C	C	T			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr9:136210997C>T	ENST00000491289.1	-	4	977	c.396G>A	c.(394-396)gaG>gaA	p.E132E	MED22_ENST00000371999.1_Silent_p.E126E|MED22_ENST00000344469.5_Silent_p.E132E|MED22_ENST00000343730.5_Silent_p.E132E|MED22_ENST00000486395.1_Silent_p.E132E|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000476080.1_Silent_p.E132E			Q15528	MED22_HUMAN	mediator complex subunit 22	132					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		AGTAATACTCCTCCTCCAGCT	0.607000													24	24					0	0	9.22233e-05	0	0
MAP3K6	9064	broad.mit.edu	37	1	27688678	27688678	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr1:27688678T>A	ENST00000493901.1	-	10	1558	c.1319A>T	c.(1318-1320)gAt>gTt	p.D440V	MAP3K6_ENST00000357582.2_Missense_Mutation_p.D440V|MAP3K6_ENST00000374040.3_Missense_Mutation_p.D432V	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	440				MQYYWD -> ALWVPV (in Ref. 3; AAI29952).|MQYYWD -> HTWVPV (in Ref. 3; AAI29951).	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)		GAAACCCACATCCCAGTAATA	0.597000													13	8					0	0	0.000151284	0	0
IGF1R	3480	broad.mit.edu	37	15	99440126	99440126	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr15:99440126G>C	ENST00000268035.6	+	4	1705	c.1094G>C	c.(1093-1095)cGa>cCa	p.R365P	IGF1R_ENST00000558762.1_Missense_Mutation_p.R365P	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	365					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ATTAACATCCGACGGGGGAGT	0.443000													15	31					0	0	7.07596e-05	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877888	76877888	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr1:76877888C>G	ENST00000328299.3	+	3	557	c.409C>G	c.(409-411)Cta>Gta	p.L137V	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	137					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TCCTCTTTTGCTAAAAAACCC	0.418000													17	16					0	0	5.01169e-05	0	0
SORCS3	22986	broad.mit.edu	37	10	107006985	107006985	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr10:107006985C>A	ENST00000369701.3	+	22	3228	c.3001C>A	c.(3001-3003)Cag>Aag	p.Q1001K	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1001						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAATATTTCCAGTCCCAGCT	0.468000													5	0					3.59834e-05	0.00165629	3.59834e-05	1	0
CCDC160	347475	broad.mit.edu	37	X	133379086	133379086	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chrX:133379086A>G	ENST00000517294.1	+	3	639	c.256A>G	c.(256-258)Att>Gtt	p.I86V	CCDC160_ENST00000370809.4_Missense_Mutation_p.I86V			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	86										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						CAAGAGAAACATTTCAAAGAA	0.294000													7	1					0	0	8.12818e-05	0	0
TRIM38	10475	broad.mit.edu	37	6	25983718	25983718	+	Missense_Mutation	SNP	A	A	G	rs139300929		TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr6:25983718A>G	ENST00000357085.3	+	8	1677	c.1201A>G	c.(1201-1203)Act>Gct	p.T401A	TRIM38_ENST00000349458.3_Missense_Mutation_p.T401A	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	401	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TTCTCCCCCAACTTCCCTTCA	0.507000													22	57					0	0	9.22233e-05	0	0
SLC6A13	6540	broad.mit.edu	37	12	330229	330229	+	Missense_Mutation	SNP	C	C	T	rs141229734		TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr12:330229C>T	ENST00000343164.4	-	15	1746	c.1694G>A	c.(1693-1695)cGt>cAt	p.R565H	SLC6A13_ENST00000445055.2_Missense_Mutation_p.R473H	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	565					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CATGAGCTGACGGATTCTCTG	0.652000													8	17					0	0	2.17888e-05	0	0
DHX38	9785	broad.mit.edu	37	16	72130255	72130255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr16:72130255G>A	ENST00000268482.3	+	2	708	c.199G>A	c.(199-201)Gat>Aat	p.D67N	DHX38_ENST00000536867.1_Missense_Mutation_p.D67N	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	67					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGAGAAGGACGATGGGGAGGA	0.572000													16	2					0	0	3.45872e-05	0	0
DPYSL5	56896	broad.mit.edu	37	2	27157527	27157527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr2:27157527C>T	ENST00000288699.6	+	8	1030	c.872C>T	c.(871-873)gCg>gTg	p.A291V	DPYSL5_ENST00000401478.1_Missense_Mutation_p.A291V	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	291					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTCCCACGCGGCTGCCTAT	0.582000													51	66					0	0	0.000147903	0	0
PCNX	22990	broad.mit.edu	37	14	71540341	71540341	+	Silent	SNP	T	T	C			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr14:71540341T>C	ENST00000304743.2	+	27	5378	c.4932T>C	c.(4930-4932)ccT>ccC	p.P1644P	PCNX_ENST00000238570.5_Silent_p.P1572P|PCNX_ENST00000439984.3_Silent_p.P1533P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1644						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTGTGAACCTGGCCATATTC	0.453000													24	39					0	0	9.22233e-05	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	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													6	51					0	0	1.12685e-05	0	0
PTEN	5728	broad.mit.edu	37	10	89717727	89717727	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr10:89717727G>T	ENST00000371953.3	+	7	2109	c.752G>T	c.(751-753)gGt>gTt	p.G251V	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	251	C2 tensin-type.		G -> C (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G251D(2)|p.G165_*404del(1)|p.?(1)|p.G251V(1)|p.G251fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTGTGTGTGGTGATATCAAA	0.398000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			17	1					1.01871e-10	4.98214e-09	0.000132079	1	0
MKL2	57496	broad.mit.edu	37	16	14334345	14334345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr16:14334345C>A	ENST00000572567.1	+	8	1248	c.1050C>A	c.(1048-1050)taC>taA	p.Y350*	MKL2_ENST00000573051.1_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000571589.1_Intron|MKL2_ENST00000341243.5_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0				P -> A (in Ref. 1; AAQ82435).	cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATTCAAGTACGGCGGGGCCC	0.493000													15	21					3.41278e-10	1.61849e-08	5.01169e-05	1	0
FMNL1	752	broad.mit.edu	37	17	43309817	43309817	+	Silent	SNP	G	G	A			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr17:43309817G>A	ENST00000331495.3	+	3	633	c.297G>A	c.(295-297)aaG>aaA	p.K99K	FMNL1_ENST00000328118.3_Silent_p.K99K|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	99	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TCAGCCGAAAGGTAGCAGCTG	0.542000													10	16					0	0	6.40141e-05	0	0
ZFX	7543	broad.mit.edu	37	X	24229387	24229387	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chrX:24229387C>G	ENST00000379177.1	+	11	2739	c.2312C>G	c.(2311-2313)aCg>aGg	p.T771R	ZFX_ENST00000539115.1_Missense_Mutation_p.T542R|ZFX_ENST00000540034.1_Missense_Mutation_p.T810R|ZFX_ENST00000379188.3_Missense_Mutation_p.T771R|ZFX_ENST00000338565.3_Missense_Mutation_p.T721R|ZFX_ENST00000304543.5_Missense_Mutation_p.T771R	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	771				T -> R (in Ref. 5).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TCCATTCACACGAAAGACTAT	0.453000													34	4					0	0	0.000132358	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651241	1651241	+	Silent	SNP	A	A	C			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr11:1651241A>C	ENST00000399676.2	+	1	209	c.171A>C	c.(169-171)ggA>ggC	p.G57G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	57						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gctgtgggggatgtggctccg	0.682000													4	57					0	0	3.59834e-05	0	0
DNM1	1759	broad.mit.edu	37	9	130965819	130965819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr9:130965819G>A	ENST00000341179.7	+	1	162	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000393608.1_Intron|DNM1_ENST00000486160.1_Missense_Mutation_p.G24S|DNM1_ENST00000393594.3_Missense_Mutation_p.G24S|DNM1_ENST00000372923.3_Missense_Mutation_p.G24S|DNM1_ENST00000475805.1_Missense_Mutation_p.G24S	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	24					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTCTGCCATCGGCCAGAACGC	0.682000													9	11					0	0	3.86212e-05	0	0
NRK	203447	broad.mit.edu	37	X	105178259	105178259	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chrX:105178259G>C	ENST00000428173.2	+	20	3628	c.3325G>C	c.(3325-3327)Ggt>Cgt	p.G1109R	NRK_ENST00000243300.9_Missense_Mutation_p.G1108R			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1108							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAGCCAGGTGGTGGAAATGA	0.418000										HNSCC(51;0.14)			3	23					0	0	1.23904e-05	0	0
NCOA3	8202	broad.mit.edu	37	20	46262905	46262905	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr20:46262905C>G	ENST00000372004.3	+	10	1294	c.1078C>G	c.(1078-1080)Cga>Gga	p.R360G	NCOA3_ENST00000371997.3_Missense_Mutation_p.R370G|NCOA3_ENST00000371998.3_Missense_Mutation_p.R360G|NCOA3_ENST00000341724.6_Missense_Mutation_p.R370G	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	360					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AACAAATGATCGACATGGCTT	0.388000													31	50					0	0	0.000159656	0	0
KMT2C	58508	broad.mit.edu	37	7	151891141	151891141	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr7:151891141A>T	ENST00000355193.2	-	31	4831	c.4613T>A	c.(4612-4614)tTg>tAg	p.L1538*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.L1538*					lysine (K)-specific methyltransferase 2C																		AGGCTGTGGCAATGGAGTTGG	0.393000													22	0					0	0	7.16444e-05	0	0
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													7	166	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs138980379		TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGTAGATTGTTATTTCGTTTTT	0.416													4	6	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr1:152276467_152276468insGGA	ENST00000368799.1	-	3	10929_10930	c.10894_10895insTCC	c.(10894-10896)gtc>TCCgtc	p.3631_3632insS	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3631	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis				8	643	---	---	---	---					
ITPKB	3707	broad.mit.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs11278152		TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr1:226924876_226924884delCTGCCGCTG	ENST00000429204.1	-	2	603_611	c.276_284delCAGCGGCAG	c.(274-285)agt>ag	p.SSGS92del	ITPKB_ENST00000272117.3_In_Frame_Del_p.SSGS92del|ITPKB_ENST00000366784.1_In_Frame_Del_p.SSGS92del	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746													8	23	---	---	---	---					
KALRN	8997	broad.mit.edu	37	3	123953675	123953675	+	Splice_Site	DEL	G	G	-			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr3:123953675delG	ENST00000360013.3	+	3	269		c.e3-1		KALRN_ENST00000460856.1_Splice_Site|KALRN_ENST00000240874.3_Splice_Site	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTTCTTGCAGGGGGTCGTGA	0.488													2	4	---	---	---	---					
PBX2P1	5088	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr3:142895155delC	ENST00000560287.1	+	0	29																											GGCCTCAGGGCCCCCCCCCAG	0.746													19	14	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(163-168)gggcgg>ggGGCgcgg	p.55_56GR>GAR	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													2	4	---	---	---	---					
PURA	5813	broad.mit.edu	37	5	139494456	139494458	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr5:139494456_139494458delCTT	ENST00000331327.3	+	1	749_751	c.690_692delCTT	c.(688-693)cgc>cg	p.RF230del		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	230					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACAAGCGCTTCTTCTTCGAT	0.596													21	4	---	---	---	---					
C6orf223	221416	broad.mit.edu	37	6	43970503	43970504	+	In_Frame_Ins	INS	-	-	GCG	rs72369323		TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr6:43970503_43970504insGCG	ENST00000336600.5	+	4	389_390	c.369_370insGCG	c.(367-372)cgcggc>cgGCGcggc	p.123_124insR	RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	123										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGGTAGAGCGCgcggcggcggc	0.777													4	8	---	---	---	---					
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832	byFrequency	TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)cagfs	p.Q466fs	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.460													3	4	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)del	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													8	313	---	---	---	---					
ASF1B	55723	broad.mit.edu	37	19	14232424	14232424	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A17Z-06A-11D-A196-08	TCGA-EE-A17Z-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f421d6c-acb9-470b-b315-a1f1375a4d1c	0f5f5be4-90e5-4ed4-abd6-595b4fe4806e	g.chr19:14232424delG	ENST00000263382.3	-	3	821	c.322delC	c.(322-324)gafs	p.R108fs	ASF1B_ENST00000592798.1_Intron|ASF1B_ENST00000474890.1_Frame_Shift_Del_p.R108fs	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	108	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						TAGCCCACTCGGATGAACTCC	0.587													22	35	---	---	---	---					
