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
CT47B1	643311	broad.mit.edu	37	X	120008925	120008925	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:120008925C>T	ENST00000371311.3	-	1	854	c.600G>A	c.(598-600)gcG>gcA	p.A200A		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	200								p.A200A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTGGGACCGACGCGGCCTCCT	0.716000													3	23					0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26789216	26789216	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:26789216C>A	ENST00000381588.4	-	5	1555	c.803G>T	c.(802-804)aGg>aTg	p.R268M	RNF6_ENST00000381570.3_Missense_Mutation_p.R268M|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.R268M	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	268					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTCCCTTTGCCTGAGTTCACT	0.458000													111	240					1.04528e-42	1.24341e-42	1	1	0
POC1B	282809	broad.mit.edu	37	12	89818965	89818965	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:89818965A>C	ENST00000393179.4	-	9	1528	c.915T>G	c.(913-915)atT>atG	p.I305M	POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.I393M|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000313546.3_Missense_Mutation_p.I435M					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GTTGTTCCATAATATGCTCTA	0.433000													166	296					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31241578	31241578	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:31241578A>T	ENST00000269197.5	+	5	355		c.e5-1			NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCTGTTTCTAGTTTGTTCGA	0.378000													3	27					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78857684	78857684	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:78857684G>T	ENST00000306801.3	+	16	2116	c.1754G>T	c.(1753-1755)tGg>tTg	p.W585L	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	585					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCAGGATCTGGCAGAACTTC	0.642000													5	160					5.9392e-07	6.41504e-07	1	1	0
MAGI1	9223	broad.mit.edu	37	3	65342652	65342652	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:65342652T>C	ENST00000402939.2	-	23	3789	c.3790A>G	c.(3790-3792)Agg>Ggg	p.R1264G	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1293					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTCGGATCCCTTGCGTGTGCC	0.592000													4	263					0	0	1	0	0
ZNF789	285989	broad.mit.edu	37	7	99084134	99084134	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:99084134C>A	ENST00000331410.5	+	5	571	c.301C>A	c.(301-303)Cca>Aca	p.P101T	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAGCTAACTCCAAAACAGAA	0.343000													12	33					1.52009e-12	1.73998e-12	1	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918835	51918835	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:51918835T>G	ENST00000353836.5	-	6	1280	c.1059A>C	c.(1057-1059)caA>caC	p.Q353H	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.Q205H|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.Q270H|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.Q295H|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.Q353H|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.Q263H|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.Q353H|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.Q295H|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.Q305H	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	353	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCCTGTTTGCTTGGGAAACCA	0.597000													9	478					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876174	2876174	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:2876174T>A	ENST00000520002.1	-	53	8414		c.e53-2		CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACGAGATAACTAGAAGGAAAA	0.378000													7	199					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42608900	42608900	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:42608900C>A	ENST00000359486.3	-	1	2548	c.2412G>T	c.(2410-2412)ctG>ctT	p.L804L	TCF20_ENST00000335626.4_Silent_p.L804L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGCTTTTGTTCAGAAGGCCCC	0.478000													4	47					0.014758	0.0153046	1	1	0
RGS8	85397	broad.mit.edu	37	1	182617279	182617279	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:182617279G>A	ENST00000483095.2	-	6	610	c.353C>T	c.(352-354)cCa>cTa	p.P118L	RGS8_ENST00000258302.4_Missense_Mutation_p.P136L|RGS8_ENST00000367557.4_Missense_Mutation_p.P118L|RGS8_ENST00000367556.1_Missense_Mutation_p.P118L			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	118	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CACCTCCCGTGGAGCCTGCAC	0.532000													32	165					0	0	1	0	0
MTFR1	9650	broad.mit.edu	37	8	66621209	66621209	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:66621209A>T	ENST00000262146.4	+	8	1059		c.e8-1		MTFR1_ENST00000458689.2_Splice_Site	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1							mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GTTTGTTTCTAGTTTGGGCCA	0.403000													7	124					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398000									Pendred syndrome				6	376					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357441	38357441	+	Silent	SNP	A	A	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:38357441A>C	ENST00000379705.3	-	2	887	c.30T>G	c.(28-30)gtT>gtG	p.V10V	TRPC4_ENST00000447043.1_Silent_p.V10V|TRPC4_ENST00000379679.1_Silent_p.V10V|TRPC4_ENST00000338947.5_Silent_p.V10V|TRPC4_ENST00000355779.2_Silent_p.V10V|TRPC4_ENST00000379673.2_Silent_p.V10V|TRPC4_ENST00000379681.3_Silent_p.V10V|TRPC4_ENST00000426868.2_Silent_p.V10V|TRPC4_ENST00000358477.2_Silent_p.V10V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	10					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGGAGCATTAACATTTCTTT	0.388000													81	83					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:183495729A>T	ENST00000367537.3	+	6	594		c.e6-1		SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000508461.1_Splice_Site			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333000													5	76					0	0	1	0	0
OS9	10956	broad.mit.edu	37	12	58089814	58089814	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:58089814C>T	ENST00000315970.7	+	4	514	c.473C>T	c.(472-474)aCa>aTa	p.T158I	OS9_ENST00000435406.2_Intron|OS9_ENST00000389146.6_Missense_Mutation_p.T158I|OS9_ENST00000439210.2_Missense_Mutation_p.T99I|OS9_ENST00000257966.8_Missense_Mutation_p.T158I|OS9_ENST00000551035.1_Missense_Mutation_p.T158I|OS9_ENST00000552285.1_Missense_Mutation_p.T158I|OS9_ENST00000413095.2_Intron|OS9_ENST00000389142.5_Missense_Mutation_p.T158I|RP11-571M6.7_ENST00000549477.1_RNA	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	158	PRKCSH.				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GATGATGAAACAGCCAAGGTG	0.507000													14	458					0	0	1	0	0
ERCC5	2073	broad.mit.edu	37	13	103513996	103513996	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:103513996G>T	ENST00000355739.4	+	7	2235	c.812G>T	c.(811-813)gGc>gTc	p.G271V	BIVM-ERCC5_ENST00000602836.1_Silent_p.G696G	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GATGAAGGGGGCTTTCTGAAG	0.388000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	315					4.3838e-07	4.76329e-07	1	1	0
RFX7	64864	broad.mit.edu	37	15	56388271	56388271	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:56388271C>T	ENST00000423270.1	-	9	1654	c.1655G>A	c.(1654-1656)tGc>tAc	p.C552Y	RFX7_ENST00000559447.2_Missense_Mutation_p.C455Y|RFX7_ENST00000422057.1_Missense_Mutation_p.C455Y|RFX7_ENST00000317318.6_Missense_Mutation_p.C552Y	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	455					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTTCTCTTGGCACTGTACAGG	0.512000													6	54					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240795	39240795	+	Missense_Mutation	SNP	A	A	T	rs9894966	by1000genomes	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:39240795A>T	ENST00000391417.4	+	1	337	c.337A>T	c.(337-339)Agc>Tgc	p.S113C		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.R111_C115delRPSCC(1)|p.S113C(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgccgccccagctgctgccg	0.667000													4	16					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53133936	53133936	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:53133936G>T	ENST00000542638.1	-	8	1336	c.889C>A	c.(889-891)Cgg>Agg	p.R297R	ELOVL5_ENST00000304434.6_Silent_p.R297R|ELOVL5_ENST00000370918.4_Silent_p.R287R|ELOVL5_ENST00000541407.1_Silent_p.R324R			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	297					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CAATCCTTCCGCAGCTTCCTT	0.478000													12	784					4.3838e-07	4.76329e-07	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248343639	248343639	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:248343639A>T	ENST00000359682.2	+	1	352	c.352A>T	c.(352-354)Atg>Ttg	p.M118L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTGGCTGTTATGGCTTATGA	0.408000													6	317					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGTTTTTTTAGTTGCAACTA	0.333000													3	32					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307905	54307905	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:54307905A>C	ENST00000545554.1	+	1	2805	c.2805A>C	c.(2803-2805)ttA>ttC	p.L935F	UNC13C_ENST00000260323.11_Missense_Mutation_p.L935F|UNC13C_ENST00000537900.1_Missense_Mutation_p.L935F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	935					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGAGGGGTTAGAACCCTTAA	0.403000													69	66					0	0	1	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031797	132031797	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:132031797C>A	ENST00000314099.8	-	1	409	c.361G>T	c.(361-363)Gca>Tca	p.A121S	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	121						integral to membrane				endometrium(1)|lung(1)	2						TCTTCTGCTGCCGCCTTCTCA	0.398000													4	147					0.00198382	0.00208101	1	1	0
AAR2	25980	broad.mit.edu	37	20	34832710	34832710	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:34832710G>T	ENST00000373932.3	+	3	1195	c.849G>T	c.(847-849)cgG>cgT	p.R283R	AAR2_ENST00000320849.4_Silent_p.R283R|AAR2_ENST00000397286.3_Silent_p.R283R	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		TCCTGTGCCGGTCAGAAGCAG	0.527000													13	237					2.35188e-11	2.65042e-11	1	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120331379	120331379	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:120331379A>T	ENST00000397843.2	+	27	2693		c.e27-1		ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12						apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTTTATCTTTAGTTGGATTGA	0.323000			T	MLL	AML								6	205					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60103973	60103973	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:60103973A>T	ENST00000371218.4	+	11	1331	c.1147A>T	c.(1147-1149)Act>Tct	p.T383S	FGGY_ENST00000474476.1_Intron|FGGY_ENST00000303721.7_Missense_Mutation_p.T383S|FGGY_ENST00000371212.1_Missense_Mutation_p.T295S|FGGY_ENST00000371210.1_Missense_Mutation_p.T84S	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	383					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GGGTTTCCTTACTGTTGATTT	0.418000													10	623					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93649533	93649533	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:93649533A>T	ENST00000343253.7	+	3	636		c.e3-1		CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTTTTCTCTAGTGTTAGTCC	0.328000													4	82					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18451282	18451282	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:18451282A>T	ENST00000541669.1	+	4	355		c.e4-1		LDHC_ENST00000535809.1_Splice_Site|LDHC_ENST00000544105.1_Splice_Site|LDHC_ENST00000280704.4_Splice_Site|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000537486.1_Splice_Site|LDHC_ENST00000536880.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C						glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TTTCCTTTTTAGATTACAGTG	0.383000													4	90					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46058627	46058627	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:46058627C>A	ENST00000536708.2	+	13	1566	c.1457C>A	c.(1456-1458)gCa>gAa	p.A486E	RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.A461E	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	461					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CAGCAGGAGGCACTTGAGGAG	0.567000													7	154					0.27861	0.28015	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76023475	76023475	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:76023475A>T	ENST00000393004.2	-	5	2294	c.2073T>A	c.(2071-2073)aaT>aaA	p.N691K	FILIP1_ENST00000370020.1_Missense_Mutation_p.N592K|FILIP1_ENST00000237172.7_Missense_Mutation_p.N691K|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	691										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTATTGCTTTATTCTTGGCAA	0.428000													9	928					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41142841	41142841	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:41142841A>T	ENST00000380588.4	+	4	521		c.e4-1		IGSF5_ENST00000479378.1_Splice_Site	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5							integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTTCTTCTTTAGTTATGGGAG	0.388000													5	170					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19127229	19127229	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:19127229T>C	ENST00000252137.6	-	5	627	c.584A>G	c.(583-585)aAt>aGt	p.N195S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	195					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GAGTTCGAGATTATCTTTCTG	0.562000													9	117					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688314	109688314	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:109688314T>A	ENST00000277225.5	+	3	2410	c.2121T>A	c.(2119-2121)atT>atA	p.I707I	ZNF462_ENST00000457913.1_Silent_p.I707I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	707					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGAGCAAAATTAACCAAACCA	0.458000													6	355					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517000													6	93					0	0	1	0	0
FNTB	2342	broad.mit.edu	37	14	65482384	65482384	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:65482384G>A	ENST00000246166.2	+	4	558	c.324G>A	c.(322-324)ctG>ctA	p.L108L	CHURC1-FNTB_ENST00000447296.2_Silent_p.L142L|CHURC1-FNTB_ENST00000542227.1_Silent_p.L62L|FNTB_ENST00000555742.1_3'UTR|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000448390.2_5'UTR	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATTGGATCCTGCACAGCTTGG	0.493000													5	208					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119244139	119244139	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:119244139T>C	ENST00000260187.2	-	2	346	c.52A>G	c.(52-54)Aca>Gca	p.T18A	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	18	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGGGCATCTGTGTAGCGGGCC	0.582000													3	45					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27838033	27838033	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:27838033A>T	ENST00000355467.4	+	11	1214		c.e11-1		ZNF512_ENST00000416005.2_Splice_Site|ZNF512_ENST00000379717.1_Splice_Site|ZNF512_ENST00000413371.2_Splice_Site|ZNF512_ENST00000556601.1_Splice_Site|RP11-158I13.2_ENST00000505973.1_RNA			Q96ME7	ZN512_HUMAN	zinc finger protein 512						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CTTGTCTTGTAGTTAAAATAT	0.363000													6	101					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104039	5104039	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:5104039A>G	ENST00000396912.1	+	5	1471	c.952A>G	c.(952-954)Aaa>Gaa	p.K318E	RBAK_ENST00000353796.3_Missense_Mutation_p.K318E|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	318					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAAGCCCTATAAATGTAATGA	0.423000													7	167					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618806	77618806	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:77618806A>G	ENST00000521891.2	+	2	2931	c.2483A>G	c.(2482-2484)aAc>aGc	p.N828S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N828S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N828S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N828S|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	828						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAGCCCAGAACATAGGCCTG	0.542000										HNSCC(33;0.089)			14	24					0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158378661	158378661	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:158378661A>T	ENST00000486715.1	+	10	1578		c.e10-1		GFM1_ENST00000264263.5_Splice_Site|GFM1_ENST00000478576.1_Splice_Site|GFM1_ENST00000490261.1_Splice_Site	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1						mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGTTTTTTTAGGATGTTGAG	0.348000													5	302					0	0	1	0	0
HERC2P9	440248	broad.mit.edu	37	15	28929443	28929443	+	RNA	SNP	C	C	T	rs692165	by1000genomes	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:28929443C>T	ENST00000528584.1	+	0	1980					NR_036443.1																						TTTTGGGCTCCCTGGGTGGTC	0.532000													3	31					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111694794	111694794	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:111694794A>T	ENST00000435970.1	-	15	5346	c.4530T>A	c.(4528-4530)agT>agA	p.S1510R	REV3L_ENST00000358835.3_Missense_Mutation_p.S1588R|REV3L_ENST00000368805.1_Missense_Mutation_p.S1588R|REV3L_ENST00000368802.3_Missense_Mutation_p.S1588R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1588					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTGTTTTGTACTTCTGGGAG	0.368000								DNA polymerases (catalytic subunits)					5	88					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98817000	98817000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:98817000C>T	ENST00000266058.4	-	12	1369	c.1124G>A	c.(1123-1125)gGt>gAt	p.G375D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G375D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	375					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAAACACACCACGGGGGAG	0.567000													14	36					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823530	74823530	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:74823530T>G	ENST00000256362.4	+	2	285	c.44T>G	c.(43-45)cTg>cGg	p.L15R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	15					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGCAGGAGCTGCAGGAAGCA	0.587000													8	102					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58207197	58207197	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:58207197C>A	ENST00000537081.1	-	3	129	c.130G>T	c.(130-132)Gtg>Ttg	p.V44L	AVIL_ENST00000257861.3_Missense_Mutation_p.V51L			O75366	AVIL_HUMAN	advillin	51	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTGGCCACTCTCCGGGTC	0.577000													54	98					2.40885e-21	2.80135e-21	1	1	0
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:42022431A>T	ENST00000264451.6	+	4	514		c.e4-1			NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTTGTTTAGTTAAAGCAG	0.348000													6	69					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610604	95610604	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:95610604A>G	ENST00000395505.2	-	3	449	c.357T>C	c.(355-357)taT>taC	p.Y119Y	ZNF484_ENST00000332591.6_Silent_p.Y119Y|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Silent_p.Y155Y|ZNF484_ENST00000395506.3_Silent_p.Y157Y	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CAATGTCCTTATATTCAAAGA	0.373000													53	120					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	3					0.150653	0.153607	1	1	0
A2ML1	144568	broad.mit.edu	37	12	8998036	8998036	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:8998036A>T	ENST00000299698.7	+	13	1656		c.e13-1		A2ML1_ENST00000539547.1_Splice_Site|A2ML1_ENST00000540049.1_3'UTR	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1							extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTCTTCTTTAGTTAATAGGG	0.428000													8	163					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169472850	169472850	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:169472850G>T	ENST00000256935.8	+	39	3987	c.3907G>T	c.(3907-3909)Gag>Tag	p.E1303*	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E364*|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E795*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1303	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGTGCAAGGAGCTGGCGGA	0.572000													11	590					8.28177e-16	9.53976e-16	1	1	0
SYCE1	93426	broad.mit.edu	37	10	135370646	135370646	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:135370646A>G	ENST00000368517.3	-	7	419	c.281T>C	c.(280-282)tTg>tCg	p.L94S	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.L130S|SYCE1_ENST00000432597.2_Missense_Mutation_p.L94S	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	130					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCACTCCTGCAACATGGTGTG	0.547000													253	468					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40476084	40476084	+	Splice_Site	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:40476084G>C	ENST00000287598.6	+	6	946	c.751_splice	c.e6+1	p.A251_splice	BUB1B_ENST00000412359.3_Splice_Site_p.A265_splice	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	251					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGCTCTCAAGGGTAAGTTTGT	0.388000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				11	48					0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49701422	49701422	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:49701422A>T	ENST00000433368.2	-	5	555	c.486T>A	c.(484-486)taT>taA	p.Y162*	CRISP3_ENST00000263045.4_Nonsense_Mutation_p.Y152*|CRISP3_ENST00000371159.4_Nonsense_Mutation_p.Y170*|CRISP3_ENST00000423399.2_Nonsense_Mutation_p.Y49*|CRISP3_ENST00000393666.1_Nonsense_Mutation_p.Y139*	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	139					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTACCTGTGTATAATGTCCAA	0.398000													8	675					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210001459	210001459	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:210001459T>A	ENST00000491415.2	+	1	108	c.51T>A	c.(49-51)acT>acA	p.T17T		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	17					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ACACCCTAACTAAAAAGCAGA	0.547000											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	103					0	0	1	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99219088	99219088	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:99219088G>T	ENST00000394152.2	+	5	807	c.480G>T	c.(478-480)aaG>aaT	p.K160N	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.K160N|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.K160N	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		TGGAGGTCAAGCCTGAATGGG	0.617000													7	117					5.68852e-11	6.39081e-11	1	1	0
PGPEP1L	145814	broad.mit.edu	37	15	99512729	99512729	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:99512729C>T	ENST00000535714.1	-	4	939	c.134G>A	c.(133-135)gGg>gAg	p.G45E	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000378919.6_Missense_Mutation_p.G99E	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	99					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CATGCAGACCCCTGACTCCAG	0.627000													8	862					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103293529	103293529	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:103293529A>T	ENST00000520539.1	-	41	6521	c.5915T>A	c.(5914-5916)cTa>cAa	p.L1972Q	UBR5_ENST00000220959.4_Missense_Mutation_p.L1972Q|UBR5_ENST00000521922.1_Missense_Mutation_p.L1966Q	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1972					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTTGCGTTCTAGTTGAGGTGT	0.373000													8	192					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240794	39240794	+	Silent	SNP	C	C	A	rs9894106		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:39240794C>A	ENST00000391417.4	+	1	336	c.336C>A	c.(334-336)ccC>ccA	p.P112P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgccccagctgctgcc	0.667000													4	17					0.217242	0.219656	1	1	0
NEK3	4752	broad.mit.edu	37	13	52728066	52728066	+	Silent	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:52728066A>T	ENST00000452082.2	-	3	1566	c.336T>A	c.(334-336)atT>atA	p.I112I	NEK3_ENST00000400357.2_Silent_p.I91I|NEK3_ENST00000339406.3_Silent_p.I91I|NEK3_ENST00000378101.2_Silent_p.I91I			P51956	NEK3_HUMAN	NIMA-related kinase 3	91	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TCTGCTGTTTAATCTTTTGCA	0.353000													5	151					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464695	141464695	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:141464695A>T	ENST00000247879.2	+	1	799	c.737A>T	c.(736-738)tAc>tTc	p.Y246F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	246					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttcttactttactttcttgct	0.418000													5	236					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48523234	48523234	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:48523234T>A	ENST00000537810.1	-	55	8126		c.e55-2		FRYL_ENST00000507873.2_Splice_Site|FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000503238.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTGTTTAACTAAAAAGAGAA	0.373000													7	90					0	0	1	0	0
SPRED1	161742	broad.mit.edu	37	15	38631947	38631947	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:38631947G>C	ENST00000299084.4	+	5	1293	c.433G>C	c.(433-435)Gag>Cag	p.E145Q		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	145					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGCAAATGAAGAGGATTCTTC	0.388000									Legius syndrome				3	91					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60806849	60806849	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:60806849T>A	ENST00000335670.6	-	4	490	c.390A>T	c.(388-390)ttA>ttT	p.L130F	RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.L163F|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.L75F|RORA_ENST00000309157.4_Missense_Mutation_p.L155F|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	163					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GGCATTTCTGTAATCGACAGT	0.498000													227	470					0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172841199	172841199	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:172841199C>T	ENST00000264108.4	+	9	963	c.927C>T	c.(925-927)ttC>ttT	p.F309F	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Silent_p.F224F	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	309					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGCAAGGATTCAATGAAGATA	0.333000													3	54					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111933013	111933013	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:111933013C>T	ENST00000375741.2	+	16	2027	c.1777C>T	c.(1777-1779)Cca>Tca	p.P593S	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P500S|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P490S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P415S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.P572S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.P415S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P415S|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.P337S|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.P415S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.P543S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	593					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCATTCAGTGCCATCTCATAC	0.532000													5	414					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42850678	42850678	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:42850678C>T	ENST00000200557.6	+	11	1044	c.875C>T	c.(874-876)aCa>aTa	p.T292I	ADAM11_ENST00000535346.1_Missense_Mutation_p.T92I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	292	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCCATGGAAACATGGGCAGAT	0.612000													17	62					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1791575	1791575	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:1791575C>A	ENST00000518288.1	+	3	245	c.82C>A	c.(82-84)Cga>Aga	p.R28R	ARHGEF10_ENST00000262112.6_Silent_p.R28R|ARHGEF10_ENST00000520359.1_Silent_p.R4R|ARHGEF10_ENST00000398560.1_Silent_p.R28R|ARHGEF10_ENST00000398564.1_Silent_p.R28R|ARHGEF10_ENST00000349830.3_Silent_p.R4R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	28					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CATGGACCAGCGAGAGCCCCT	0.582000													5	74					3.09899e-07	3.38748e-07	1	1	0
TCOF1	6949	broad.mit.edu	37	5	149769510	149769510	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:149769510G>T	ENST00000451292.1	+	20	3326	c.3218G>T	c.(3217-3219)aGc>aTc	p.S1073I	TCOF1_ENST00000504761.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1036I|TCOF1_ENST00000445265.2_Missense_Mutation_p.S959I|TCOF1_ENST00000323668.7_Missense_Mutation_p.S959I|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1073I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1036					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAAAGCCAGCATGGCTGGG	0.582000													42	37					2.54085e-39	3.00282e-39	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48840368	48840368	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:48840368A>G	ENST00000314191.2	-	20	2278	c.2222T>C	c.(2221-2223)aTt>aCt	p.I741T	PRKDC_ENST00000338368.3_Missense_Mutation_p.I741T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	741					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATCGAGTTCAATGATGTTGTG	0.448000								Non-homologous end-joining					57	56					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63547747	63547747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:63547747G>T	ENST00000397968.2	+	12	2401	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*	CDH7_ENST00000323011.3_Nonsense_Mutation_p.G659*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	659					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAGGGCGGGGGAGAGGAGGA	0.478000													4	38					0.0293803	0.0302103	1	1	0
WDR3	10885	broad.mit.edu	37	1	118493455	118493455	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:118493455A>T	ENST00000349139.4	+	16	1793		c.e16-1			NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTTGATGTTTAGTTTTTTCTG	0.269000													6	101					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054669	67054669	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:67054669G>A	ENST00000295568.4	+	3	1331	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.A426A	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	426										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CTGTTTGCGCGATGCCAGTTG	0.423000													5	442					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912404	150912404	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:150912404C>T	ENST00000329903.4	+	6	1462	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	477					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCttcagtcctggggatta	0.517000													12	299					0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23915501	23915501	+	Silent	SNP	G	G	A	rs1064418	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:23915501G>A	ENST00000330377.2	-	3	711	c.594C>T	c.(592-594)caC>caT	p.H198H	AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	198	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane		p.H198H(1)		kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TGCTCCCTTCGTGCATGACCT	0.632000													5	302					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30890728	30890728	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:30890728C>A	ENST00000321897.5	+	22	2792	c.2160C>A	c.(2158-2160)ttC>ttA	p.F720L	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.F720L|VARS2_ENST00000542001.1_Missense_Mutation_p.F580L|VARS2_ENST00000541562.1_Missense_Mutation_p.F750L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	720					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCTGAGATTCACACTCTGCT	0.612000													130	158					1.55176e-64	1.86416e-64	1	1	0
FOXRED2	80020	broad.mit.edu	37	22	36892016	36892016	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:36892016G>T	ENST00000397224.4	-	7	1715	c.1622C>A	c.(1621-1623)aCc>aAc	p.T541N	FOXRED2_ENST00000366463.3_Missense_Mutation_p.T93N|FOXRED2_ENST00000216187.6_Missense_Mutation_p.T541N|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T541N	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	541					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGCTCACCGGTGGGGAGGTA	0.542000													83	146					9.47799e-51	1.13486e-50	1	1	0
VPS33A	65082	broad.mit.edu	37	12	122723269	122723269	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:122723269G>T	ENST00000267199.4	-	10	1279	c.1167C>A	c.(1165-1167)gtC>gtA	p.V389V	RP11-512M8.5_ENST00000535844.1_Silent_p.V350V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	389					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TGTAATTGTTGACCTGGAAAT	0.383000													9	145					1.58986e-06	1.70711e-06	1	1	0
SLC16A4	9122	broad.mit.edu	37	1	110919782	110919782	+	Splice_Site	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:110919782A>G	ENST00000369779.4	-	7	1281	c.1030_splice	c.e7-1	p.G344_splice	SLC16A4_ENST00000369781.4_Splice_Site_p.G176_splice|SLC16A4_ENST00000437429.2_Splice_Site_p.G234_splice|SLC16A4_ENST00000472422.2_Splice_Site_p.G296_splice|SLC16A4_ENST00000541986.1_Splice_Site_p.G282_splice	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	344						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TCTCAAGGATACCTGGAACAA	0.398000													4	362					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90185512	90185512	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:90185512C>A	ENST00000394412.3	-	11	2392	c.2316G>T	c.(2314-2316)aaG>aaT	p.K772N		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	772					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTGGAGCTCCTTGCCCTCGA	0.692000													12	16					5.90632e-09	6.53466e-09	1	1	0
TCTN2	79867	broad.mit.edu	37	12	124171482	124171482	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:124171482G>A	ENST00000303372.5	+	6	792	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	TCTN2_ENST00000426174.2_Missense_Mutation_p.G221R	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	222					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTGCTCTGCTGGGACGACGAC	0.527000													10	760					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:14316410T>A	ENST00000545643.1	-	3	528		c.e3-2		RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2							endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TATCCAAAACTAAAGAAAAAA	0.398000													12	141					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897195	61897195	+	Silent	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:61897195A>T	ENST00000427159.2	-	21	3156	c.2511T>A	c.(2509-2511)cgT>cgA	p.R837R		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	837					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						TTTGTTCCTTACGTTGCTGTG	0.537000													32	1120					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10442881	10442881	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:10442881T>A	ENST00000245503.5	-	13	1532		c.e13-2		MYH2_ENST00000532183.1_Splice_Site|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Splice_Site	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTCAGCAACTAAAAAGAAGA	0.413000													7	148					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:42742008A>T	ENST00000263805.4	-	2	2719	c.2393T>A	c.(2392-2394)gTa>gAa	p.V798E	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TTTCTTGGTTACTTGCTGAAT	0.458000													10	335					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30974117	30974117	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:30974117T>A	ENST00000597505.1	-	19	2591		c.e19-2		DCDC1_ENST00000339794.5_Splice_Site|DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000406071.2_Splice_Site			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGGCCCACCTAAAACAAAAG	0.333000													3	30					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41559142	41559142	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:41559142T>A	ENST00000396942.1	-	22	2472		c.e22-2		ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000347528.4_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000352337.4_Splice_Site|ANK1_ENST00000289734.7_Splice_Site			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTGACTAACTAAAACGAGAA	0.468000											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	84					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90281337	90281337	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:90281337A>T	ENST00000268130.7	+	16	1932	c.1831A>T	c.(1831-1833)Aat>Tat	p.N611Y	WDR93_ENST00000560294.1_Missense_Mutation_p.N583Y|WDR93_ENST00000444934.2_Missense_Mutation_p.N328Y	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	611					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTTCTATTTTAATTTTGAGGC	0.443000													8	635					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77973126	77973126	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:77973126C>A	ENST00000354212.4	-	9	1630	c.1377G>T	c.(1375-1377)ggG>ggT	p.G459G	MAGI2_ENST00000522391.1_Silent_p.G459G|MAGI2_ENST00000536571.1_Silent_p.G291G|MAGI2_ENST00000535697.1_Silent_p.G296G|MAGI2_ENST00000419488.1_Silent_p.G459G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	459	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGCTGCAGGCCCATCCGGAA	0.433000													6	122					1	1	1	1	0
ABHD4	63874	broad.mit.edu	37	14	23072464	23072464	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:23072464C>T	ENST00000428304.2	+	3	352	c.282C>T	c.(280-282)cgC>cgT	p.R94R	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	94					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TGAGTGCCCGCCGCACACTGC	0.612000													3	126					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19017283	19017283	+	Silent	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:19017283A>T	ENST00000379878.3	-	25	2638	c.2397T>A	c.(2395-2397)atT>atA	p.I799I	GPR64_ENST00000379873.2_Silent_p.I815I|GPR64_ENST00000379876.1_Silent_p.I791I|GPR64_ENST00000340581.3_Silent_p.I696I|GPR64_ENST00000360279.4_Silent_p.I793I|GPR64_ENST00000357544.3_Silent_p.I785I|GPR64_ENST00000357991.3_Silent_p.I812I|GPR64_ENST00000356606.4_Silent_p.I801I|GPR64_ENST00000379869.3_Silent_p.I815I|GPR64_ENST00000354791.3_Silent_p.I799I	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	815					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TCTTCTTTTTAATTCGACAGA	0.433000													4	122					0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14687628	14687628	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:14687628A>T	ENST00000284274.4	+	5	546		c.e5-1			NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B											breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TCGATGTTGTAGTTACCAGAA	0.348000													5	107					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150404112	150404112	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:150404112G>A	ENST00000295910.6	-	4	635	c.583C>T	c.(583-585)Cct>Tct	p.P195S	FAM194A_ENST00000491361.1_Missense_Mutation_p.P49S	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	195										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGACATTCAGGTTCAGCTTTC	0.388000													25	121					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45537772	45537772	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:45537772A>G	ENST00000415258.1	+	13	1670	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	LARS2_ENST00000265537.3_Missense_Mutation_p.K510R|LARS2_ENST00000414984.1_Missense_Mutation_p.K467R|LARS2-AS1_ENST00000442534.2_RNA			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	510					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CTTAGGTGCAAGGGAGCAGCC	0.363000													72	97					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57351601	57351601	+	Splice_Site	SNP	A	A	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:57351601A>C	ENST00000361249.3	+	7	953	c.855_splice	c.e7-1	p.K286_splice		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	286	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCTGGCAGAAATTCATTTTC	0.393000													12	69					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127338092	127338092	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:127338092A>T	ENST00000265056.7	+	13	2480	c.2236A>T	c.(2236-2238)Atg>Ttg	p.M746L	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	746					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GGTGGCCAAGATGTACAGTGA	0.567000													69	108					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186086589	186086589	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:186086589A>T	ENST00000271588.4	+	77	11912		c.e77-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTTGTTTTAGTTCCACCTT	0.403000													4	69					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43462454	43462454	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:43462454T>A	ENST00000282041.5	-	31	5339		c.e31-2		EPG5_ENST00000585906.1_Splice_Site	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)						autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGATCGAACTAAAAAGAAAA	0.393000													3	33					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408000													8	374					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75478338	75478338	+	RNA	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:75478338T>C	ENST00000459803.1	-	0	327					NR_024241.1																						TCAGGGTCTCTGCCAGTGCCT	0.557000													4	67					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12546651	12546651	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:12546651A>T	ENST00000284995.6	+	6	1218		c.e6-1		TSEN2_ENST00000454502.2_Splice_Site|TSEN2_ENST00000444864.1_Intron|TSEN2_ENST00000415684.1_Intron|TSEN2_ENST00000383797.5_Splice_Site|TSEN2_ENST00000314571.7_Intron|TSEN2_ENST00000402228.3_Splice_Site	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit						mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CTTTCTCTTTAGTTGGTGCAA	0.299000													4	26					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255401	25255401	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:25255401G>A	ENST00000328086.7	-	6	2489	c.1686C>T	c.(1684-1686)cgC>cgT	p.R562R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	562					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTTTCACCTTGCGGTAACTCT	0.542000													4	199					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27427422	27427422	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:27427422C>T	ENST00000295736.5	-	23	3496	c.3426G>A	c.(3424-3426)aaG>aaA	p.K1142K	SLC4A7_ENST00000440156.1_Silent_p.K1138K|SLC4A7_ENST00000388777.4_Silent_p.K692K|SLC4A7_ENST00000437179.1_Silent_p.K1023K|SLC4A7_ENST00000445684.1_Silent_p.K1138K|SLC4A7_ENST00000446700.1_Silent_p.K1134K|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Silent_p.K1018K|SLC4A7_ENST00000454389.1_Silent_p.K1151K|SLC4A7_ENST00000435667.2_Silent_p.K1027K|SLC4A7_ENST00000455077.1_Silent_p.K1023K	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1142						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						ctttctttttcttactttctG	0.323000													5	84					0	0	1	0	0
UTP11L	51118	broad.mit.edu	37	1	38484984	38484984	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:38484984T>A	ENST00000373014.4	+	6	557	c.496T>A	c.(496-498)Ttt>Att	p.F166I	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	166					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGACAGAGTCTTTAATAGGCC	0.423000													6	83					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201054102	201054102	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:201054102C>T	ENST00000362061.3	-	9	1434	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G403D	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	403					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTTGTTCAAGCCTGCAATTTC	0.532000													4	166					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9015723	9015723	+	Silent	SNP	C	C	T	rs144233170	by1000genomes	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:9015723C>T	ENST00000397910.4	-	29	38303	c.38100G>A	c.(38098-38100)ccG>ccA	p.P12700P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12702	SEA 5.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGGGTGAACGGCACCAGGA	0.468000													13	1613					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109509468	109509468	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:109509468G>A	ENST00000257548.5	+	5	625	c.532G>A	c.(532-534)Gac>Aac	p.D178N	USP30_ENST00000392784.2_Missense_Mutation_p.D147N	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	178					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGATGAGCGAGACCGCCAGCC	0.443000													12	177					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109023492	109023492	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:109023492G>A	ENST00000478945.1	-	7	930	c.684C>T	c.(682-684)ggC>ggT	p.G228G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	228						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGAGAAGTCTGCCATGGACCA	0.502000													4	83					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948799	133948799	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:133948799A>T	ENST00000445123.1	+	3	274		c.e3-1		FAM122C_ENST00000370784.4_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site|FAM122C_ENST00000414371.2_Splice_Site			Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTTTTTAGTTTTAATTC	0.338000													8	71					0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67666418	67666418	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:67666418A>T	ENST00000347310.5	+	5	662		c.e5-1		IL23R_ENST00000371002.1_Splice_Site|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTTGTTTTAAGTTTAGAGAC	0.373000													4	54					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172115263	172115263	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:172115263T>A	ENST00000336824.4	+	26	3712	c.3613T>A	c.(3613-3615)Taa>Aaa	p.*1205K	FNDC3B_ENST00000415807.2_Nonstop_Mutation_p.*1205K|FNDC3B_ENST00000416957.1_Nonstop_Mutation_p.*1205K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	0						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTTAATGAAGTAAACCCAACA	0.328000													4	105					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	4					0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121488728	121488728	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:121488728T>G	ENST00000296600.4	+	2	1426	c.1043T>G	c.(1042-1044)aTt>aGt	p.I348S	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	348						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GATAAGGTAATTCATGCCACA	0.473000													51	105					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140275475	140275475	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:140275475C>T	ENST00000458420.3	+	11	1985	c.1795C>T	c.(1795-1797)Cgg>Tgg	p.R599W		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	599					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.R599W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCGGGTGTGCGGCGCCTCAA	0.577000										HNSCC(16;0.037)			4	166					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28164063	28164063	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:28164063C>T	ENST00000304658.5	-	8	1641	c.1141G>A	c.(1141-1143)Gtt>Att	p.V381I	XPO6_ENST00000565698.1_Missense_Mutation_p.V367I	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	381					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTTAGGTGAACACTCACAAAG	0.408000													4	176					0	0	1	0	0
NXN	64359	broad.mit.edu	37	17	725651	725651	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:725651C>T	ENST00000336868.3	-	4	750	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	NXN_ENST00000538650.1_5'UTR|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.R112Q	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	220	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	p.R220Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTTGATCTTCCGGTAGGATTC	0.592000													6	520					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169701918	169701918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:169701918G>A	ENST00000333360.7	-	3	398	c.259C>T	c.(259-261)Cag>Tag	p.Q87*	C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367779.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367782.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367781.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367776.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367777.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367774.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367775.1_Nonsense_Mutation_p.Q87*	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	87	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AGAGGTTTCTGGGTTCCTACC	0.433000													3	38					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172227005	172227005	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:172227005A>T	ENST00000241261.2	-	4	541		c.e4+1		TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10						activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGTTTCTCTTACTTGGAGAAG	0.358000													6	149					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42541661	42541661	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42541661G>A	ENST00000372899.1	+	2	526	c.268G>A	c.(268-270)Gag>Aag	p.E90K	UBR2_ENST00000372901.1_Missense_Mutation_p.E90K|UBR2_ENST00000372903.2_Missense_Mutation_p.E90K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	90					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCCAAAACTTGAGCAAGCAAA	0.388000													324	135					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16910759	16910759	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16910759G>A	ENST00000524140.2	+	17	3940	c.3522G>A	c.(3520-3522)gtG>gtA	p.V1174V	NWD1_ENST00000523826.1_Silent_p.V968V|NWD1_ENST00000339803.6_Silent_p.V1039V|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000552788.1_Silent_p.V1174V|NWD1_ENST00000379808.3_Silent_p.V1174V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1174							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGCCCCCGTGAGCCTGCTGG	0.617000													30	31					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61566751	61566751	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:61566751C>T	ENST00000263102.6	-	6	1164	c.933G>A	c.(931-933)gaG>gaA	p.E311E		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	311						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TTCTCTCCATCTCCCTCTGCA	0.488000			T	RET	NSCLC								5	109					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30890912	30890912	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:30890912C>T	ENST00000321897.5	+	23	2849	c.2217C>T	c.(2215-2217)gtC>gtT	p.V739V	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Silent_p.V739V|VARS2_ENST00000542001.1_Silent_p.V599V|VARS2_ENST00000541562.1_Silent_p.V769V			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	739					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTCTGAGGTCCAGAGCTGCC	0.542000													129	139					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48151675	48151675	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:48151675A>T	ENST00000381501.3	-	11	1062	c.905T>A	c.(904-906)aTa>aAa	p.I302K	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	302	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGTTTCCTTTATATGATAATG	0.333000													4	80					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176562268	176562268	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:176562268G>T	ENST00000439151.2	+	2	209	c.164G>T	c.(163-165)gGa>gTa	p.G55V	NSD1_ENST00000361032.4_Missense_Mutation_p.G55V|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000347982.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	55					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTGTCAGTGGAACATCCCAA	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			4	166					0.150653	0.153607	1	1	0
EDNRB	1910	broad.mit.edu	37	13	78477314	78477314	+	Missense_Mutation	SNP	C	C	A	rs77132068	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:78477314C>A	ENST00000377211.4	-	4	1200	c.1048G>T	c.(1048-1050)Gtt>Ttt	p.V350F	EDNRB_ENST00000446573.1_Missense_Mutation_p.V260F|EDNRB_ENST00000334286.5_Missense_Mutation_p.V260F	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	260					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GTCTTCTGAACGGGATGAAGC	0.408000													52	121					2.3318e-11	2.65042e-11	1	1	0
MPRIP	23164	broad.mit.edu	37	17	17064559	17064559	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:17064559G>C	ENST00000395811.5	+	15	2141	c.2052G>C	c.(2050-2052)gaG>gaC	p.E684D	MPRIP_ENST00000444976.1_Missense_Mutation_p.E646D|MPRIP_ENST00000395804.3_Missense_Mutation_p.E684D|MPRIP_ENST00000341712.4_Missense_Mutation_p.E684D	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	684	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AACAGCTGGAGCAGAGCCAGA	0.567000													15	9					0	0	1	0	0
MSANTD4	84437	broad.mit.edu	37	11	105880839	105880839	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:105880839T>A	ENST00000301919.4	-	3	1878		c.e3-2			NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							nucleus											AATTTCAAACTAAGAGCAAAG	0.368000													7	123					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49019264	49019264	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:49019264A>T	ENST00000226432.4	+	9	1369		c.e9-1		CWH43_ENST00000513409.1_Splice_Site	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)						GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTTCTGTTTAGTTCTGTGGC	0.378000													5	33					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602905	138602905	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:138602905A>G	ENST00000440172.1	-	2	1515	c.1467T>C	c.(1465-1467)ccT>ccC	p.P489P	KIAA1549_ENST00000242365.4_Silent_p.P439P|KIAA1549_ENST00000422774.1_Silent_p.P489P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	489						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGGGACGATAGGTCTGGAGG	0.458000			O	BRAF	pilocytic astrocytoma								45	78					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16539554	16539554	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16539554T>A	ENST00000602009.1	-	2	950	c.55A>T	c.(55-57)Att>Ttt	p.I19F	EPS15L1_ENST00000248070.6_Missense_Mutation_p.I173F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I173F			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	173	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCCTTGTCAATGTCACTGAGG	0.577000													17	59					0	0	1	0	0
XKR8	55113	broad.mit.edu	37	1	28293158	28293158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:28293158G>A	ENST00000373884.5	+	3	1243	c.635G>A	c.(634-636)tGg>tAg	p.W212*	XKR8_ENST00000481387.1_3'UTR	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	212						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CTGCTGCTGTGGCCCCGAGTC	0.662000													5	89					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163228383	163228383	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:163228383C>A	ENST00000332142.5	-	16	3646	c.3547G>T	c.(3547-3549)Ggt>Tgt	p.G1183C		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1183					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTATGAAGACCCACGATTCCT	0.408000													7	230					5.18039e-06	5.54607e-06	1	1	0
AGO1	26523	broad.mit.edu	37	1	36367579	36367579	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:36367579T>C	ENST00000373204.4	+	10	1384	c.1171T>C	c.(1171-1173)Tac>Cac	p.Y391H	AGO1_ENST00000373206.1_Missense_Mutation_p.Y316H	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CTTAGATCCCTACATCCAGGA	0.537000													3	150					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89154613	89154613	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:89154613A>T	ENST00000554922.1	-	18	2991		c.e18+1		EML5_ENST00000352093.5_Splice_Site|EML5_ENST00000380664.5_Splice_Site	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5							cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TAGGTTACTTACTTTTTCCAA	0.383000													9	722					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380510	3380510	+	Silent	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:3380510T>C	ENST00000354599.6	-	4	1616	c.1512A>G	c.(1510-1512)aaA>aaG	p.K504K	ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Silent_p.K553K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393000													5	205					0	0	1	0	0
EIF1	10209	broad.mit.edu	37	17	39846195	39846195	+	Splice_Site	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:39846195T>C	ENST00000469257.1	+	2	341		c.e2+2		EIF1_ENST00000310837.4_Intron|JUP_ENST00000540235.1_Intron|EIF1_ENST00000591776.1_Splice_Site			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTAAGAAAGTAGGTCTTCAG	0.423000											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	91					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201335996	201335996	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:201335996C>A	ENST00000509001.1	-	7	459	c.173G>T	c.(172-174)gGc>gTc	p.G58V	TNNT2_ENST00000367320.2_Missense_Mutation_p.G67V|TNNT2_ENST00000367322.1_Missense_Mutation_p.G58V|TNNT2_ENST00000236918.7_Missense_Mutation_p.G63V|TNNT2_ENST00000360372.4_Missense_Mutation_p.G53V|TNNT2_ENST00000458432.2_Missense_Mutation_p.G70V|TNNT2_ENST00000421663.2_Missense_Mutation_p.G60V|TNNT2_ENST00000367318.5_Missense_Mutation_p.G58V|TNNT2_ENST00000367315.2_Missense_Mutation_p.G58V|TNNT2_ENST00000367317.4_Missense_Mutation_p.G58V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	68					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CTCCATTGGGCCATCTGGAGG	0.597000													47	87					5.13769e-22	5.99397e-22	1	1	0
GPR115	221393	broad.mit.edu	37	6	47682442	47682442	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:47682442G>A	ENST00000283303.2	+	6	1719	c.1461G>A	c.(1459-1461)ctG>ctA	p.L487L	GPR115_ENST00000327753.3_Silent_p.L487L|GPR115_ENST00000371220.1_Silent_p.L544L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	487					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACCTCTCTCTGTTTTTCTGGA	0.408000													17	2489					0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135197645	135197645	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:135197645G>A	ENST00000278060.5	+	4	1133	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.E350E	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	488					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CGCCCCTGGAGGATGCTGCCC	0.582000													3	92					0	0	1	0	0
GOLM1	51280	broad.mit.edu	37	9	88642810	88642810	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:88642810T>A	ENST00000388712.3	-	10	1298		c.e10-2		GOLM1_ENST00000388711.3_Splice_Site	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1							Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CATTAAAAACTAAAAAGGAAA	0.323000													8	55					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31726989	31726989	+	Splice_Site	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:31726989C>T	ENST00000320027.5	-	5	873	c.529_splice	c.e5+1	p.V177_splice	HSPH1_ENST00000445273.2_Splice_Site_p.V179_splice|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380405.4_Splice_Site_p.V177_splice|HSPH1_ENST00000380406.5_Splice_Site_p.V136_splice	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	177					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTTTCCTTACCAGCTGTCATG	0.398000													11	479					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127627236	127627236	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:127627236C>T	ENST00000508053.1	-	55	7251	c.6277G>A	c.(6277-6279)Gga>Aga	p.G2093R	FBN2_ENST00000262464.4_Missense_Mutation_p.G2093R			P35556	FBN2_HUMAN	fibrillin 2	2093	EGF-like 35; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATCTCCGTCCATTATCAGAT	0.438000													21	201					0	0	1	0	0
KLF13	51621	broad.mit.edu	37	15	31664225	31664225	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:31664225T>C	ENST00000307145.3	+	2	948	c.590T>C	c.(589-591)tTc>tCc	p.F197S	KLF13_ENST00000560473.1_Missense_Mutation_p.F9S	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	197					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		GAGAGGCCCTTCGCCTGCAGC	0.662000													4	8					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148637920	148637920	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:148637920G>T	ENST00000506113.1	+	23	2487	c.2005G>T	c.(2005-2007)Gcc>Tcc	p.A669S	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.A155S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.A636S|ABLIM3_ENST00000309868.7_Missense_Mutation_p.A669S|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.A574S|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000504238.1_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	669	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	p.A669S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCGGCTGGCCCTCTGGAA	0.502000													12	206					1.05317e-09	1.17234e-09	1	1	0
TIE1	7075	broad.mit.edu	37	1	43777389	43777389	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:43777389C>A	ENST00000372476.3	+	10	1460	c.1381C>A	c.(1381-1383)Cgc>Agc	p.R461S	TIE1_ENST00000433781.2_Missense_Mutation_p.R106S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	461	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAAGCAGAGCCGCCAGCTTGT	0.647000													6	93					0.0293803	0.0302103	1	1	0
LRIG3	121227	broad.mit.edu	37	12	59284527	59284527	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:59284527C>G	ENST00000320743.3	-	4	721	c.435G>C	c.(433-435)caG>caC	p.Q145H	LRIG3_ENST00000379141.4_Missense_Mutation_p.Q85H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	145						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCAAGGGACTGAAACTCTT	0.388000			T	ROS1	NSCLC								11	49					0	0	1	0	0
SC5D	6309	broad.mit.edu	37	11	121177998	121177998	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:121177998C>T	ENST00000264027.4	+	5	1051	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SC5D_ENST00000534230.1_Intron|SC5D_ENST00000392789.2_Missense_Mutation_p.S226L	NM_006918.4	NP_008849.2			sterol-C5-desaturase																		ATTAATGGCTCAGCTCATCAT	0.373000													8	331					0	0	1	0	0
TIPIN	54962	broad.mit.edu	37	15	66641437	66641437	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:66641437C>G	ENST00000261881.4	-	6	521	c.436G>C	c.(436-438)Gat>Cat	p.D146H	TIPIN_ENST00000367709.4_Missense_Mutation_p.D45H	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	146					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						ATAGGGAGATCAAGTCGAATT	0.294000													3	14					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148854029	148854029	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:148854029C>T	ENST00000367467.3	+	14	2136	c.1661C>T	c.(1660-1662)cCg>cTg	p.P554L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	554							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TACCGAGGCCCGTTCTGCGGG	0.592000													4	202					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77798620	77798620	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:77798620G>T	ENST00000407578.2	-	20	3171	c.2905C>A	c.(2905-2907)Cat>Aat	p.H969N	MYCBP2_ENST00000357337.6_Missense_Mutation_p.H931N|MYCBP2_ENST00000544440.2_Missense_Mutation_p.H931N|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	931					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTGCCCATGCTGCCCATAA	0.348000													43	110					9.0599e-49	1.08125e-48	1	1	0
OPN4	94233	broad.mit.edu	37	10	88421113	88421113	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:88421113C>T	ENST00000372071.2	+	8	1301	c.1074C>T	c.(1072-1074)ccC>ccT	p.P358P	OPN4_ENST00000241891.5_Silent_p.P347P	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	347					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TCCACAACCCCATCATTTACG	0.612000													64	128					0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78184631	78184631	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:78184631T>A	ENST00000555761.1	-	13	1519	c.1491A>T	c.(1489-1491)ttA>ttT	p.L497F	SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Splice_Site|SNW1_ENST00000261531.7_Splice_Site|SLIRP_ENST00000557431.1_Intron			Q13573	SNW1_HUMAN	SNW domain containing 1	0					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)		GGAACAAATCTAAGGAAAAGG	0.428000													5	223					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	804239	804239	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:804239C>T	ENST00000347755.5	-	2	291	c.150G>A	c.(148-150)ctG>ctA	p.L50L	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L50L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	50					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										ACAGGTGCAGCAGCTGCTGGC	0.657000													3	0					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058043	152058043	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:152058043A>T	ENST00000368806.1	-	3	2179	c.2115T>A	c.(2113-2115)agT>agA	p.S705R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	705							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCTTTGCTACTTGGGCCTT	0.458000													11	381					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	115007012	115007012	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:115007012T>A	ENST00000358465.2	-	2	610		c.e2-2		TRIM33_ENST00000369543.2_Splice_Site	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTACACCAACTACAACATAAA	0.353000			T	RET	papillary thyroid								6	135					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126682552	126682552	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:126682552C>T	ENST00000309035.6	-	6	2533	c.2403G>A	c.(2401-2403)atG>atA	p.M801I	CTBP2_ENST00000531469.1_Missense_Mutation_p.M261I|CTBP2_ENST00000337195.5_Missense_Mutation_p.M261I|CTBP2_ENST00000334808.6_Missense_Mutation_p.M329I|CTBP2_ENST00000494626.2_Missense_Mutation_p.M261I|CTBP2_ENST00000411419.2_Missense_Mutation_p.M261I	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	261					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCCCTGCCTCATCTGTGGAA	0.547000													35	141					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985628	142985628	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:142985628C>A	ENST00000316549.6	-	16	2062	c.1854G>T	c.(1852-1854)aaG>aaT	p.K618N		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	618					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.K618K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAATGTTTTCCTTGCCTGGCG	0.502000													21	183					6.44725e-10	7.19877e-10	1	1	0
MTDH	92140	broad.mit.edu	37	8	98731381	98731381	+	Silent	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:98731381T>C	ENST00000336273.3	+	10	1813	c.1485T>C	c.(1483-1485)acT>acC	p.T495T	MTDH_ENST00000519934.1_Silent_p.T439T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	495					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CCATAAGCACTAGTGATCCAG	0.413000													22	30					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71215544	71215544	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:71215544A>T	ENST00000554752.2	-	5	1326		c.e5+1		MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		tgttttgtttaccttttcttt	0.438000													5	146					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51637542	51637542	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:51637542G>A	ENST00000371117.3	-	55	8875	c.8600C>T	c.(8599-8601)tCc>tTc	p.S2867F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2867F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2867	G8 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGTCCAGGAGTTCTTAGG	0.398000													60	77					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23871982	23871982	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:23871982T>C	ENST00000405093.3	-	11	996	c.926A>G	c.(925-927)tAc>tGc	p.Y309C	MYH6_ENST00000356287.3_Missense_Mutation_p.Y309C	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	309	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGCGTAGTCGTAGGGATTGTT	0.642000													3	69					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71196010	71196010	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:71196010G>T	ENST00000299886.4	+	5	1000	c.920G>T	c.(919-921)gGc>gTc	p.G307V		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	307					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTAGGAAAGGGCACTGGTGTC	0.522000													24	198					1.99505e-19	2.31274e-19	1	1	0
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448000													21	181					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47573899	47573899	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:47573899A>T	ENST00000359314.5	+	14	1873		c.e14-1			NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTATTTTCTAGATGTTGTAA	0.313000													8	204					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42618092	42618092	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:42618092G>C	ENST00000381668.5	-	5	598	c.367C>G	c.(367-369)Cga>Gga	p.R123G	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	123					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCTTTATGTCGTTTCTAAAGT	0.299000													13	38					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124412743	124412743	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:124412743C>T	ENST00000306842.2	-	1	832	c.808G>A	c.(808-810)Ggg>Agg	p.G270R		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GACACTTTCCCTTGCTCGAGG	0.438000													4	95					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60937539	60937539	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:60937539C>T	ENST00000252999.3	-	2	433	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	LAMA5_ENST00000370692.3_Missense_Mutation_p.G123S|LAMA5_ENST00000370677.3_Missense_Mutation_p.G123S	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	123	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCTCCGTGCCATCGATGGCA	0.637000													3	11					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90759177	90759177	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:90759177A>T	ENST00000354366.3	-	9	1938	c.1706T>A	c.(1705-1707)aTa>aAa	p.I569K	NRDE2_ENST00000357904.3_Missense_Mutation_p.I338K	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CTTATCTTTTATTTCCTGGTC	0.512000													5	245					0	0	1	0	0
APIP	51074	broad.mit.edu	37	11	34909879	34909879	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:34909879A>T	ENST00000395787.3	-	5	636	c.422T>A	c.(421-423)aTa>aAa	p.I141K	APIP_ENST00000278359.5_Missense_Mutation_p.I158K|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	141					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			TATTCCTTTTATCATCTCTTG	0.353000													5	128					0	0	1	0	0
RHOV	171177	broad.mit.edu	37	15	41165422	41165422	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:41165422C>A	ENST00000220507.4	-	3	694	c.545G>T	c.(544-546)tGc>tTc	p.C182F		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	182					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTCAAGGTAGCAGCAGGCTCG	0.577000													9	147					2.27111e-07	2.49001e-07	1	1	0
HAL	3034	broad.mit.edu	37	12	96387718	96387718	+	Missense_Mutation	SNP	A	A	T	rs150136984	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:96387718A>T	ENST00000261208.3	-	6	838	c.470T>A	c.(469-471)aTa>aAa	p.I157K	HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.I157K	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	157					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TTTCTCTTTTATGATGCTATC	0.338000													8	196					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408735	40408735	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:40408735G>A	ENST00000221347.6	-	8	4111	c.4104C>T	c.(4102-4104)taC>taT	p.Y1368Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1368	VWFD 3.					extracellular region	protein binding			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)			ACACAAGGTCGTAGGCCACAC	0.587000													17	198					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52966408	52966408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:52966408C>T	ENST00000549343.1	-	2	553	c.515G>A	c.(514-516)tGg>tAg	p.W172*	KRT74_ENST00000305620.2_Nonsense_Mutation_p.W172*			Q7RTS7	K2C74_HUMAN	keratin 74	172	Coil 1A.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CAGCAGCTCCCACTTGGTTTC	0.557000													3	66					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117644000	117644000	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:117644000A>T	ENST00000369466.3	+	23	3388		c.e23-1		TTF2_ENST00000480701.1_Splice_Site	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTTGTTTTTTAGATTTGTTTG	0.299000													4	30					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17172077	17172077	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:17172077C>A	ENST00000265970.7	-	3	1294	c.1295G>T	c.(1294-1296)gGa>gTa	p.G432V	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.G52V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	432					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAGCTGAAATCCTTCAATGTC	0.403000													13	168					3.41278e-10	3.82232e-10	1	1	0
R3HCC1L	27291	broad.mit.edu	37	10	99991267	99991267	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:99991267A>T	ENST00000314594.5	+	7	2130		c.e7-1		R3HCC1L_ENST00000298999.3_Splice_Site|R3HCC1L_ENST00000370586.2_Splice_Site|R3HCC1L_ENST00000370584.3_Splice_Site	NM_001256619.1	NP_001243548.1			R3H domain and coiled-coil containing 1-like																		CTTCCTTTCTAGTTATCAGGG	0.378000													6	197					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15437360	15437360	+	Splice_Site	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:15437360A>G	ENST00000295297.4	+	2	273	c.13_splice	c.e2-1	p.E5_splice	C1QTNF7_ENST00000429690.1_5'UTR|C1QTNF7_ENST00000444304.2_5'UTR	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	0						collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TCTCTTCCAGAGCCAAAGATG	0.448000													34	67					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374870	23374870	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:23374870T>A	ENST00000359890.3	-	6	597		c.e6-2		RBM23_ENST00000555209.1_Intron|RBM23_ENST00000399922.2_Splice_Site|RBM23_ENST00000346528.5_Intron|RBM23_ENST00000542016.2_Splice_Site	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23						mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TACCTATAACTAAAGAATAGA	0.398000													4	67					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100129338	100129338	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:100129338C>T	ENST00000330710.5	+	6	1726	c.1628C>T	c.(1627-1629)tCc>tTc	p.S543F	HHIPL1_ENST00000357223.2_Missense_Mutation_p.S543F	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	543					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	p.S543F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TACATCATCTCCTTCGGGGAG	0.607000													59	143					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104152925	104152925	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:104152925G>T	ENST00000388887.2	+	65	7326	c.7122G>T	c.(7120-7122)cgG>cgT	p.R2374R	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2374	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTCTGGGCGGGACATCGAGC	0.463000													42	637					6.23363e-37	7.34318e-37	1	1	0
ZSCAN9	7746	broad.mit.edu	37	6	28200339	28200339	+	Splice_Site	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:28200339G>A	ENST00000425468.2	+	5	886		c.e5-1		ZSCAN9_ENST00000252207.5_Splice_Site|ZSCAN9_ENST00000531979.1_Splice_Site	NM_001199479.1	NP_001186408.1			zinc finger and SCAN domain containing 9																		CTTTGTTTCAGATGAAGTAAC	0.408000													108	198					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127760169	127760169	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:127760169G>T	ENST00000368679.4	-	12	1518	c.1209C>A	c.(1207-1209)agC>agA	p.S403R	ADAM12_ENST00000368676.4_Missense_Mutation_p.S403R	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	403	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTTCTCCAGGCTGGTCTCCA	0.542000													27	553					4.14947e-28	4.85662e-28	1	1	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021150	46021150	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:46021150C>T	ENST00000380102.2	+	1	654	c.629C>T	c.(628-630)aCg>aTg	p.T210M	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	210	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						AGCTCCTGCACGCCCTCGTGC	0.667000													6	174					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113649559	113649559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:113649559A>T	ENST00000358160.4	+	11	1582		c.e11-1		GRAMD1C_ENST00000440446.2_Splice_Site|GRAMD1C_ENST00000479212.1_Splice_Site|GRAMD1C_ENST00000452134.2_Splice_Site|GRAMD1C_ENST00000472026.1_Splice_Site	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C							integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGTTGTTGTTAGATGTAGTAT	0.343000													7	119					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38955746	38955746	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:38955746C>T	ENST00000306658.7	-	1	465	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	134	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TAGTCATGATCAAGTCCACGG	0.388000													35	223					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127507357	127507357	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:127507357A>T	ENST00000262461.2	+	19	2912		c.e19-1		SLC12A2_ENST00000343225.4_Splice_Site	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2						potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ttttgttcttAGTGATGCTTT	0.269000													4	114					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840160	128840160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:128840160G>A	ENST00000310343.9	-	22	4905	c.4906C>T	c.(4906-4908)Cag>Tag	p.Q1636*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1287*|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1287*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1636	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCTGAAGCTGAGTGACATGA	0.502000													9	36					0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960888	29960888	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:29960888T>A	ENST00000253381.2	+	2	320	c.287T>A	c.(286-288)gTa>gAa	p.V96E		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	96					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TACTTTGAAGTAAGCAGCAAG	0.458000													6	360					0	0	1	0	0
RPL27A	6157	broad.mit.edu	37	11	8707275	8707275	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:8707275C>A	ENST00000314138.6	+	5	772	c.369C>A	c.(367-369)atC>atA	p.I123I	RPL27A_ENST00000530022.1_Silent_p.I66I|RPL27A_ENST00000530913.1_Silent_p.I66I|RPL27A_ENST00000526562.1_Silent_p.I66I|RPL27A_ENST00000524496.1_Silent_p.I66I|RPL27A_ENST00000532359.1_Silent_p.I88I	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	123					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCTGTCATCGTGAAGGCCA	0.473000													10	180					0.000151284	0.00016008	1	1	0
ZNF826P	664701	broad.mit.edu	37	19	20607672	20607672	+	RNA	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:20607672G>T	ENST00000502675.1	-	0	90					NR_036455.1															large_intestine(4)	4						CAGAGGCTGGGCCTCTATGAG	0.557000													20	6					5.26018e-13	6.04008e-13	1	1	0
ATAD3B	83858	broad.mit.edu	37	1	1425751	1425751	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:1425751G>A	ENST00000308647.7	+	14	1568	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	484							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGAGCGCCTGGTGAGACTGC	0.592000													4	10					0	0	1	0	0
AUP1	550	broad.mit.edu	37	2	74756309	74756309	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:74756309C>T	ENST00000377526.3	-	3	598	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	135						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						AAAGGTGTCACATGGTTGGAA	0.607000													4	86					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								4	97					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68837896	68837896	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:68837896A>T	ENST00000294309.3	+	9	930		c.e9-1		TPCN2_ENST00000542467.1_Splice_Site|TPCN2_ENST00000442692.2_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTTTCTTTTAGTGATGATTC	0.443000													5	104					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19488785	19488785	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:19488785T>A	ENST00000396229.2	+	13	2863	c.2114T>A	c.(2113-2115)aTc>aAc	p.I705N	TMC5_ENST00000564959.1_Missense_Mutation_p.I388N|TMC5_ENST00000561503.1_Missense_Mutation_p.I346N|TMC5_ENST00000541464.1_Missense_Mutation_p.I653N|TMC5_ENST00000381414.4_Missense_Mutation_p.I705N|TMC5_ENST00000219821.5_Missense_Mutation_p.I459N|TMC5_ENST00000542583.2_Missense_Mutation_p.I705N|CTA-363E6.6_ENST00000561762.1_RNA	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	705						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAAATATCAATCATTGGCATT	0.393000													123	250					0	0	1	0	0
PTGR1	22949	broad.mit.edu	37	9	114337124	114337124	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:114337124T>A	ENST00000407693.2	-	8	914		c.e8-2		PTGR1_ENST00000238248.3_Splice_Site|PTGR1_ENST00000309195.5_Splice_Site|PTGR1_ENST00000538962.1_Splice_Site|ZNF483_ENST00000358151.4_Intron|RP11-16L21.7_ENST00000450154.1_RNA	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1						leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TCCACCTACCTAAACAGATAG	0.368000													4	78					0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56882003	56882003	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:56882003A>T	ENST00000370750.2	+	6	1169		c.e6-1		BEND6_ENST00000484701.1_Splice_Site|BEND6_ENST00000370746.3_Splice_Site|BEND6_ENST00000545789.1_Splice_Site			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TTATCTTTTTAGTTCCAGATT	0.313000													4	57					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43171362	43171362	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:43171362G>T	ENST00000352483.2	-	3	582	c.518C>A	c.(517-519)tCg>tAg	p.S173*	RIPK4_ENST00000544709.1_Nonsense_Mutation_p.S110*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.S173*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.S110*			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	173						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGGTCATGCGAGTGGGACAG	0.537000													7	368					7.48243e-07	8.058e-07	1	1	0
DYSF	8291	broad.mit.edu	37	2	71883318	71883318	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:71883318G>A	ENST00000258104.3	+	42	4813	c.4536G>A	c.(4534-4536)gtG>gtA	p.V1512V	DYSF_ENST00000409762.1_Silent_p.V1529V|DYSF_ENST00000413539.2_Silent_p.V1543V|DYSF_ENST00000409366.1_Silent_p.V1534V|DYSF_ENST00000429174.2_Silent_p.V1533V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Silent_p.V1513V|DYSF_ENST00000410020.3_Silent_p.V1551V|DYSF_ENST00000410041.1_Silent_p.V1530V|DYSF_ENST00000409744.1_Silent_p.V1520V|DYSF_ENST00000409651.1_Silent_p.V1544V|DYSF_ENST00000409582.3_Silent_p.V1550V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1512						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGAGAATGTGGAGGCCTTTG	0.483000													27	400					0	0	1	0	0
SH2D6	284948	broad.mit.edu	37	2	85662808	85662808	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:85662808G>A	ENST00000389938.2	+	19	1490	c.176G>A	c.(175-177)cGc>cAc	p.R59H	SH2D6_ENST00000481426.2_3'UTR|SH2D6_ENST00000340326.2_Missense_Mutation_p.R91H			Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	91										central_nervous_system(1)|lung(2)	3						TATACCGTGCGCCCCAGCTCA	0.652000													3	17					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151842348	151842348	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:151842348G>T	ENST00000355193.2	-	55	14453	c.14235C>A	c.(14233-14235)acC>acA	p.T4745T	KMT2C_ENST00000262189.6_Silent_p.T4688T					lysine (K)-specific methyltransferase 2C																		CGTATCGGAAGGTATAATTTT	0.483000													50	129					1.04682e-39	1.24118e-39	1	1	0
DDX60L	91351	broad.mit.edu	37	4	169392986	169392986	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:169392986C>T	ENST00000511577.1	-	4	423	c.176G>A	c.(175-177)gGa>gAa	p.G59E	DDX60L_ENST00000260184.7_Missense_Mutation_p.G59E|DDX60L_ENST00000515088.1_5'UTR|DDX60L_ENST00000505890.1_Missense_Mutation_p.G59E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	59							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAGATTCTGTCCCCACTTGAA	0.353000													41	51					0	0	1	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179360386	179360386	+	Splice_Site	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:179360386T>G	ENST00000234453.4	+	5	1016	c.615_splice	c.e5+1	p.M205_splice		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	205						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CCTGTTCAAATGGTTTGAACT	0.398000													135	176					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	14005509	14005509	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:14005509A>T	ENST00000261643.3	+	4	651	c.574A>T	c.(574-576)Act>Tct	p.T192S	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Intron	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	192					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTTCCTGCTTACTTCTGTTGG	0.473000													7	521					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:7172402A>T	ENST00000406697.1	+	9	1145		c.e9-1		C1S_ENST00000328916.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000402681.3_Splice_Site			P09871	C1S_HUMAN	complement component 1, s subcomponent						complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTCTCTGTTAGTTAATTGCA	0.418000													5	124					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861593	55861593	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:55861593G>A	ENST00000302124.2	+	1	841	c.810G>A	c.(808-810)gcG>gcA	p.A270A	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453000													4	119					0	0	1	0	0
RBBP9	10741	broad.mit.edu	37	20	18477864	18477864	+	Translation_Start_Site	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:18477864G>T	ENST00000337227.4	-	0	23					NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9							cytoplasm|nucleus	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						GCTGAGCCCAGCCTGCTCCCG	0.687000													5	7					0.014758	0.0153046	1	1	0
MON2	23041	broad.mit.edu	37	12	62928623	62928623	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:62928623A>T	ENST00000393630.3	+	13	2024		c.e13-1		MON2_ENST00000280379.6_Splice_Site|MON2_ENST00000393629.2_Splice_Site|MON2_ENST00000393632.2_Splice_Site|MON2_ENST00000552115.1_Splice_Site|MON2_ENST00000552738.1_Splice_Site|MON2_ENST00000546600.1_Splice_Site	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)						Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTTCCTTTAAGTTAGTAGGG	0.323000													6	80					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23180386	23180386	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:23180386A>T	ENST00000322231.7	+	6	866		c.e6-1		KLHL7_ENST00000409689.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000339077.4_Splice_Site			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTGTGTTTAGGTATAAGTG	0.318000													4	88					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858392	43858392	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:43858392A>T	ENST00000389420.3	-	10	1509		c.e10+1		ADAMTS20_ENST00000553158.1_Splice_Site	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20							proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCTTTTCTTACTATATGGGG	0.333000													4	99					0	0	1	0	0
XRCC6BP1	91419	broad.mit.edu	37	12	58350468	58350468	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:58350468A>T	ENST00000300145.3	+	6	662		c.e6-1		XRCC6BP1_ENST00000546709.1_Splice_Site	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1						double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						CCTTCTTTTTAGACTTGTGTG	0.308000													6	176					0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101009797	101009797	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:101009797G>C	ENST00000264249.3	-	7	1366	c.981C>G	c.(979-981)atC>atG	p.I327M	CHST10_ENST00000409701.1_Missense_Mutation_p.I327M|CHST10_ENST00000542617.1_Missense_Mutation_p.I375M	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	327					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTCGTTTGCTGATGCCCAGGA	0.488000													7	205					0	0	1	0	0
FABP12	646486	broad.mit.edu	37	8	82441764	82441764	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:82441764A>T	ENST00000360464.4	-	2	217	c.155T>A	c.(154-156)aTa>aAa	p.I52K	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	52							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						TTTGGTTTTTATTGTGATGAC	0.443000													4	94					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90125915	90125915	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:90125915A>T	ENST00000268138.7	+	2	759		c.e2-1		RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Splice_Site					TOPBP1-interacting checkpoint and replication regulator																		GTTTTATTTTAGTTGTGGGAA	0.398000													6	93					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51693389	51693389	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:51693389A>T	ENST00000267012.4	-	6	578		c.e6+1		BIN2_ENST00000544402.1_Splice_Site|BIN2_ENST00000604560.1_Splice_Site|BIN2_ENST00000452142.2_Splice_Site	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2							cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTTTTGTTTTACCTTGGCAGT	0.502000													11	508					0	0	1	0	0
TSNAX	7257	broad.mit.edu	37	1	231700333	231700333	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:231700333C>A	ENST00000366639.4	+	6	713	c.555C>A	c.(553-555)gtC>gtA	p.V185V	TRAX_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	185	Interaction with C1D.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TCACACCTGTCGATTACCTTC	0.458000													204	500					3.84278e-119	4.64708e-119	1	1	0
SYNGAP1	8831	broad.mit.edu	37	6	33408591	33408591	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:33408591C>A	ENST00000418600.2	+	11	1863	c.1762C>A	c.(1762-1764)Ctt>Att	p.L588I	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L529I|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L588I	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	588	Ras-GAP.				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						CGCAGACAGGCTTATCAGCGC	0.622000													10	160					2.17888e-05	2.31228e-05	1	1	0
RPS19	6223	broad.mit.edu	37	19	42364899	42364899	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:42364899G>T	ENST00000598742.1	+	2	427	c.55G>T	c.(55-57)Gca>Tca	p.A19S	RPS19_ENST00000593863.1_Missense_Mutation_p.A19S|RPS19_ENST00000221975.2_5'UTR	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	19			LA -> E (in DBA1).		endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						CAGAGCTCTGGCAGCCTTCCT	0.557000									Diamond-Blackfan Anemia				106	58					5.97981e-71	7.20745e-71	1	1	0
TSSK4	283629	broad.mit.edu	37	14	24675249	24675249	+	Nonsense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:24675249T>G	ENST00000339917.5	+	1	324	c.120T>G	c.(118-120)taT>taG	p.Y40*	TSSK4_ENST00000287913.6_Nonsense_Mutation_p.Y40*|TSSK4_ENST00000556621.1_Intron|TSSK4_ENST00000428351.2_Nonsense_Mutation_p.Y40*|TM9SF1_ENST00000556387.1_Intron|TM9SF1_ENST00000530611.1_Intron	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	40	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		GGTCGGTATATGAGGCTTTCT	0.488000													15	824					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:133948805A>T	ENST00000414371.2	+	4	396	c.223A>T	c.(223-225)Aat>Tat	p.N75Y	FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000445123.1_5'UTR	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343000													6	82					0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61650821	61650821	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:61650821T>C	ENST00000397985.2	+	5	689	c.433T>C	c.(433-435)Tca>Cca	p.S145P	SERPINB8_ENST00000353706.2_Missense_Mutation_p.S145P|SERPINB8_ENST00000397988.3_Missense_Mutation_p.S145P|SERPINB8_ENST00000542677.1_5'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	145					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGGTAAGATTTCAGAGGTACT	0.398000													4	85					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77275589	77275589	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:77275589C>T	ENST00000251089.2	-	2	574	c.462G>A	c.(460-462)tcG>tcA	p.S154S	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	154										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ACTGGGGCTCCGACTGCATGG	0.632000													4	39					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36484110	36484110	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:36484110G>T	ENST00000342292.4	-	11	5362	c.5342C>A	c.(5341-5343)gCt>gAt	p.A1781D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1781						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGTCCATCAGCATCTAGAGT	0.572000													161	138					2.40628e-126	2.91962e-126	1	1	0
CACNA1G	8913	broad.mit.edu	37	17	48677037	48677037	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:48677037G>T	ENST00000352832.5	+	16	3810	c.3438G>T	c.(3436-3438)aaG>aaT	p.K1146N	CACNA1G_ENST00000442258.2_Missense_Mutation_p.K1146N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1169N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1169					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGAGGCCAAGAGTTCCTTTG	0.642000													5	22					5.9392e-07	6.41504e-07	1	1	0
TG	7038	broad.mit.edu	37	8	133931619	133931619	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:133931619A>T	ENST00000220616.4	+	21	4418		c.e21-1		TG_ENST00000377869.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTTTTTCTAGTTAAGTGTC	0.418000													6	90					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TGGTTAAAACTAAATAACCAA	0.303000													5	69					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779265	156779265	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156779265C>G	ENST00000392306.2	-	7	901	c.762G>C	c.(760-762)agG>agC	p.R254S	SH2D2A_ENST00000368199.3_Missense_Mutation_p.R244S|SH2D2A_ENST00000368198.3_Missense_Mutation_p.R226S	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	244	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCTTGGGCCTGAGCAGCT	0.657000													10	286					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18725291	18725291	+	Silent	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:18725291T>G	ENST00000440756.2	-	4	1629	c.1527A>C	c.(1525-1527)gcA>gcC	p.A509A	PSD3_ENST00000523619.1_Silent_p.A444A|PSD3_ENST00000327040.8_Silent_p.A509A			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	509					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGCCACCATCTGCAGACACAC	0.522000													255	779					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13735817	13735817	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:13735817G>T	ENST00000342409.2	-	14	1626	c.1246C>A	c.(1246-1248)Cag>Aag	p.Q416K	FRMD4A_ENST00000358621.4_Intron|FRMD4A_ENST00000357447.2_Intron|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000378503.1_Intron			Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	897						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTCCCCAGCTGCAGCTCTCCC	0.612000													19	75					1.50039e-11	1.71204e-11	1	1	0
RICTOR	253260	broad.mit.edu	37	5	38945658	38945658	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:38945658C>G	ENST00000357387.3	-	34	4598	c.4568G>C	c.(4567-4569)tGt>tCt	p.C1523S	RICTOR_ENST00000296782.5_Missense_Mutation_p.C1547S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1523					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AATACAGACACAATAAAGGCA	0.403000													20	53					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123984267	123984267	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:123984267A>G	ENST00000369005.1	+	12	7913	c.7573A>G	c.(7573-7575)Att>Gtt	p.I2525V	TACC2_ENST00000515273.1_Missense_Mutation_p.I2529V|TACC2_ENST00000260733.3_Missense_Mutation_p.I603V|TACC2_ENST00000369001.1_Missense_Mutation_p.I229V|TACC2_ENST00000334433.3_Missense_Mutation_p.I2525V|TACC2_ENST00000515603.1_Missense_Mutation_p.I2480V|TACC2_ENST00000360561.3_Missense_Mutation_p.I603V|TACC2_ENST00000358010.1_Missense_Mutation_p.I671V|TACC2_ENST00000513429.1_Missense_Mutation_p.I671V|TACC2_ENST00000369000.1_Missense_Mutation_p.I225V|TACC2_ENST00000368999.1_Missense_Mutation_p.I615V|TACC2_ENST00000369004.3_Missense_Mutation_p.I615V|TACC2_ENST00000453444.2_Missense_Mutation_p.I2529V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2525						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCCTATGAAATTGAATATAT	0.443000													7	154					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156509711	156509711	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156509711G>C	ENST00000361170.2	-	24	2821	c.2811C>G	c.(2809-2811)gaC>gaG	p.D937E		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	937					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTCTGCTTGTCCAGAACCA	0.498000													84	219					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71733393	71733393	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:71733393T>C	ENST00000393695.3	-	7	695	c.364A>G	c.(364-366)Aaa>Gaa	p.K122E	NUMA1_ENST00000351960.6_Missense_Mutation_p.K122E|NUMA1_ENST00000358965.6_Missense_Mutation_p.K122E	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	122					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACCTGAATTTTATATTCAAAC	0.483000			T	RARA	APL								77	127					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160560786	160560786	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:160560786C>T	ENST00000366963.4	+	7	1310	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	SLC22A1_ENST00000324965.4_Missense_Mutation_p.P388L|SLC22A1_ENST00000457470.2_Missense_Mutation_p.P388L	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	388						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GTCGAAATCCCGGGGGCCTTC	0.587000													4	70					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457510	45457510	+	RNA	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:45457510C>T	ENST00000548424.1	+	0	448																											TTCTCTGCTCCACTATTGAGA	0.488000													6	119					0	0	1	0	0
KRT8P12	90133	broad.mit.edu	37	3	160285898	160285898	+	RNA	SNP	C	C	T	rs4679895	by1000genomes	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:160285898C>T	ENST00000468527.1	+	0	909																											ACTCCAACATCCAGGCTGTAT	0.562000													3	59					0	0	1	0	0
NEU1	4758	broad.mit.edu	37	6	31829196	31829196	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:31829196G>A	ENST00000375631.4	-	3	513	c.384C>T	c.(382-384)gtC>gtT	p.V128V		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	128						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	CCCCATCATTGACAATGAACG	0.493000													93	46					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383000													5	78					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57182112	57182112	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:57182112A>T	ENST00000395123.2	-	11	1340	c.1036T>A	c.(1036-1038)Tac>Aac	p.Y346N	SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y359N|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y346N	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	346					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TCCTTCTGGTACTTCTGTTTA	0.547000													19	1042					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938760	119938760	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:119938760G>C	ENST00000297350.4	-	4	1168	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	264	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTATATCTTGGTCTTTGTTT	0.358000													43	100					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499808	59499808	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:59499808T>A	ENST00000307144.4	+	1	767	c.669T>A	c.(667-669)atT>atA	p.I223I	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	223					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GTTTCTTGATTGGACAAAAGC	0.438000													20	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584535	179584535	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:179584535G>A	ENST00000589042.1	-	82	23908	c.23684C>T	c.(23683-23685)cCc>cTc	p.P7895L	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P7578L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P6651L|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7578	Ig-like 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGGTTCGGGCTTCTCTAT	0.398000													15	53					0	0	1	0	0
FAM192A	80011	broad.mit.edu	37	16	57207783	57207783	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:57207783T>A	ENST00000309137.8	-	2	244		c.e2-2		FAM192A_ENST00000389447.5_5'UTR|FAM192A_ENST00000569266.1_Splice_Site|FAM192A_ENST00000564108.1_Splice_Site|FAM192A_ENST00000566077.1_Intron|FAM192A_ENST00000567439.1_Splice_Site	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A							nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						ACAACCAATCTACaaaacaaa	0.368000													4	163					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62649409	62649409	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:62649409G>A	ENST00000377892.1	+	6	1089	c.865G>A	c.(865-867)Ggc>Agc	p.G289S	SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G196S|SLC3A2_ENST00000377890.2_Missense_Mutation_p.G258S|SLC3A2_ENST00000377891.2_Missense_Mutation_p.G259S|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G227S|SLC3A2_ENST00000338663.7_Missense_Mutation_p.G157S			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	258					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GAAGGTGAAGGGCCTTGTGCT	0.542000													30	180					0	0	1	0	0
PEX11A	8800	broad.mit.edu	37	15	90226800	90226800	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:90226800T>A	ENST00000300056.3	-	3	701	c.552A>T	c.(550-552)ttA>ttT	p.L184F	PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.L153F	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	184					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGATCGGAATAAAAGAAGTA	0.478000													7	466					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	355983	355983	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:355983A>T	ENST00000280886.6	-	32	4061	c.3974T>A	c.(3973-3975)cTg>cAg	p.L1325Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1325						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCGTGTCTCAGGGCTCTCAT	0.473000													92	209					0	0	1	0	0
SMYD2	56950	broad.mit.edu	37	1	214507541	214507541	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:214507541A>T	ENST00000366957.5	+	11	1134		c.e11-1		SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Splice_Site	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2						negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		CTCTTGTTCTAGTAAGCACTA	0.572000													11	371					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79446773	79446773	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:79446773T>A	ENST00000507668.2	-	9	1137		c.e9-2		SERINC5_ENST00000509193.1_Splice_Site|SERINC5_ENST00000512721.1_Splice_Site|SERINC5_ENST00000512972.2_Splice_Site	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5						phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GATGTCAAACTAAGAAACAGA	0.483000													6	218					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145551555	145551555	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:145551555T>A	ENST00000394434.2	-	4	380		c.e4-2		LARS_ENST00000510191.1_Splice_Site|LARS_ENST00000511505.1_Splice_Site|LARS_ENST00000274562.9_Intron|LARS_ENST00000545646.1_Splice_Site	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase						leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TACAGCAAACTACAGaaataa	0.333000													5	66					0	0	1	0	0
PEX12	5193	broad.mit.edu	37	17	33904556	33904556	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:33904556C>T	ENST00000225873.4	-	2	788	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	61					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTAAAGATTTCATCAAACCAC	0.373000													267	603					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2203642	2203642	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:2203642G>T	ENST00000544865.1	-	2	822	c.312C>A	c.(310-312)atC>atA	p.I104I	SMG6_ENST00000263073.5_Silent_p.I135I			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	135					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTGTTCTTTTGATAATTTTTA	0.468000													4	156					0.000602214	0.00063538	1	1	0
FBXL5	26234	broad.mit.edu	37	4	15613936	15613936	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:15613936C>T	ENST00000341285.3	-	10	2076	c.1952G>A	c.(1951-1953)tGt>tAt	p.C651Y	FBXL5_ENST00000412094.2_Missense_Mutation_p.C634Y|FBXL5_ENST00000382358.4_Missense_Mutation_p.C525Y	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	651					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CAGAGAAGGACATGCTGAAAC	0.383000													3	46					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6266849	6266849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:6266849T>A	ENST00000344683.5	+	2	148	c.72T>A	c.(70-72)taT>taA	p.Y24*	MCPH1_ENST00000522905.1_Nonsense_Mutation_p.Y24*|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.Y24*	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	24	BRCT 1.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAGAAAATTATTCAAAGACAT	0.363000													40	33					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44426347	44426347	+	Translation_Start_Site	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:44426347C>A	ENST00000269973.5	-	0	1081				ZNF45_ENST00000589703.1_De_novo_Start_OutOfFrame|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45						multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTTTGTCCTCCTCCTTCTGGA	0.408000													13	137					0.0202918	0.0209836	1	1	0
ZNF783	100289678	broad.mit.edu	37	7	148963912	148963912	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:148963912G>A	ENST00000434415.1	+	3	586	c.423G>A	c.(421-423)gtG>gtA	p.V141V		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	141					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGTTCCAGGTGCCCGTGACCT	0.622000													62	645					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41648022	41648022	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:41648022A>T	ENST00000400454.1	-	11	2834		c.e11+1			NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule						cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCTCTCTTACTTTTAACCG	0.448000													6	146					0	0	1	0	0
PLIN2	123	broad.mit.edu	37	9	19126128	19126128	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:19126128C>A	ENST00000276914.2	-	3	389	c.210G>T	c.(208-210)caG>caT	p.Q70H	PLIN2_ENST00000380465.3_Missense_Mutation_p.Q70H|PLIN2_ENST00000411567.1_Missense_Mutation_p.Q70H|PLIN2_ENST00000380464.3_Missense_Mutation_p.Q70H	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	70					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GCTCTAGCTTCTGGATGATGG	0.532000													16	353					2.35188e-11	2.65042e-11	1	1	0
WBP11	51729	broad.mit.edu	37	12	14947533	14947533	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:14947533C>G	ENST00000261167.2	-	7	892	c.659G>C	c.(658-660)gGt>gCt	p.G220A	WBP11_ENST00000537574.1_Missense_Mutation_p.G220A	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	220	Interaction with PP1 (By similarity).				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TAGGGCAAAACCCACTTTACG	0.502000													185	512					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122769435	122769435	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:122769435A>T	ENST00000194130.2	-	9	1071		c.e9+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1							integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	tgtttgtCTTACCTTATTGGC	0.408000													6	183					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	2116073	2116073	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:2116073G>T	ENST00000380815.4	-	4	546	c.277C>A	c.(277-279)Ctt>Att	p.L93I	GMDS_ENST00000530927.1_Missense_Mutation_p.L63I	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	93					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ATCTTCACAAGGCAGGTACTG	0.413000													10	334					0.00136819	0.00143937	1	1	0
SLC4A7	9497	broad.mit.edu	37	3	27427425	27427425	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:27427425A>T	ENST00000295736.5	-	23	3493	c.3423T>A	c.(3421-3423)agT>agA	p.S1141R	SLC4A7_ENST00000440156.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S691R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S1022R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S1133R|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S1017R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S1150R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S1026R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S1022R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1141						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						tctttttcttactttctGGCA	0.323000													12	89					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44270864	44270864	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:44270864G>A	ENST00000244571.4	-	16	2196	c.2194C>T	c.(2194-2196)Cat>Tat	p.H732Y	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	732					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TCCAATGCATGGGCCACGGGC	0.622000													4	60					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61528151	61528151	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:61528151T>C	ENST00000266070.4	-	7	2111	c.1786A>G	c.(1786-1788)Aag>Gag	p.K596E	DIDO1_ENST00000395343.1_Missense_Mutation_p.K596E|DIDO1_ENST00000395335.2_Missense_Mutation_p.K596E|DIDO1_ENST00000395340.1_Missense_Mutation_p.K596E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	596					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CATGGCCTCTTGGGGATGGTG	0.587000													7	419					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125498070	125498070	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:125498070A>T	ENST00000303545.3	+	2	553		c.e2-1			NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139						negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTTTCTTTTAGGTGTATTTG	0.328000													4	106					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171256785	171256785	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:171256785G>A	ENST00000334231.6	+	17	1906	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N	MYO3B_ENST00000409044.3_Missense_Mutation_p.D627N|MYO3B_ENST00000408978.4_Missense_Mutation_p.D627N|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	627	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACATCAGACTGATAAAAGTGA	0.418000													9	408					0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10927548	10927548	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:10927548G>T	ENST00000404371.2	-	13	1509	c.1172C>A	c.(1171-1173)gCt>gAt	p.A391D	PDIA6_ENST00000272227.3_Missense_Mutation_p.A339D|PDIA6_ENST00000404824.2_Missense_Mutation_p.A387D|PDIA6_ENST00000381611.4_Missense_Mutation_p.A344D|PDIA6_ENST00000540494.1_Missense_Mutation_p.A336D			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	339					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTGGGCTCCAGCTTCTGTCCA	0.468000													23	67					1.1904e-30	1.39777e-30	1	1	0
SLC9A8	23315	broad.mit.edu	37	20	48479596	48479596	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:48479596T>G	ENST00000417961.1	+	9	1102	c.892T>G	c.(892-894)Tct>Gct	p.S298A	SLC9A8_ENST00000361573.2_Missense_Mutation_p.S282A|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Missense_Mutation_p.S63A	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	282						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGGCTTAATTTCTGCATTAAT	0.418000													32	58					0	0	1	0	0
C18orf25	147339	broad.mit.edu	37	18	43796531	43796531	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:43796531A>G	ENST00000282059.6	+	2	1059	c.685A>G	c.(685-687)Agc>Ggc	p.S229G	C18orf25_ENST00000321319.6_Missense_Mutation_p.S229G	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	229										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GGTTTCAGGGAGCAGCAAGAC	0.433000													3	89					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35496172	35496172	+	Silent	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:35496172A>T	ENST00000357182.4	-	2	296	c.69T>A	c.(67-69)atT>atA	p.I23I	ZMYM6_ENST00000373340.2_Silent_p.I23I|ZMYM6_ENST00000373333.1_Silent_p.I23I|ZMYM6_ENST00000487874.1_Silent_p.I23I|ZMYM6_ENST00000317538.5_Silent_p.I23I|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	23					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTTCTTCTTTAATTTTGTCCA	0.348000													4	62					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768699	57768699	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:57768699G>A	ENST00000371030.2	+	1	2625	c.2625G>A	c.(2623-2625)caG>caA	p.Q875Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	875						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGCCAGGCAGGTGGGCGAGC	0.652000													6	18					0	0	1	0	0
STAG3L4	64940	broad.mit.edu	37	7	66774050	66774050	+	RNA	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:66774050G>T	ENST00000416602.2	+	0	491					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				ACTTCCCTATGGACAACCTCA	0.527000													7	338					1.76689e-08	1.94305e-08	1	1	0
CDC16	8881	broad.mit.edu	37	13	115004475	115004475	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:115004475C>T	ENST00000360383.3	+	4	410	c.212C>T	c.(211-213)gCa>gTa	p.A71V	CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.A70V|CDC16_ENST00000356221.3_Missense_Mutation_p.A71V	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	71					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|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|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TTGTATGAAGCATGTCGTTAC	0.299000													3	23					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118532064	118532064	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:118532064A>T	ENST00000311085.8	+	31	7537		c.e31-1		DMXL1_ENST00000539542.1_Splice_Site	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTTTATTTTTAGTTGGTCCTT	0.388000													8	306					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70446071	70446071	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:70446071C>A	ENST00000310961.5	+	10	1040	c.622C>A	c.(622-624)Ctg>Atg	p.L208M	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.L203M			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	203						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCTGAAGTTCTGGATCAAAT	0.333000													4	174					1.12685e-05	1.20286e-05	1	1	0
DGKE	8526	broad.mit.edu	37	17	54912520	54912520	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:54912520G>A	ENST00000284061.3	+	2	544	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000572810.1_Missense_Mutation_p.A122T|DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	122					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GGTCCTGGACGCCATGCCCCA	0.592000													6	233					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877876	130877876	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:130877876G>C	ENST00000357462.5	-	1	306	c.213C>G	c.(211-213)tgC>tgG	p.C71W	POTEF_ENST00000409914.2_Missense_Mutation_p.C71W|POTEF_ENST00000361163.4_Missense_Mutation_p.C71W|POTEF_ENST00000360967.5_Missense_Mutation_p.C71W			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	71						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCCCCCTGCAGCAGGGGAAGC	0.592000													4	88					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383000													5	176					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413000													4	152					0	0	1	0	0
HCCAT5	283902	broad.mit.edu	37	16	73127098	73127098	+	RNA	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:73127098C>A	ENST00000569990.2	+	0	756					NR_027756.1																						TGGACGACCACGCGCATGCAG	0.542000													4	75					0.014758	0.0153046	1	1	0
CDH4	1002	broad.mit.edu	37	20	60448849	60448849	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:60448849C>T	ENST00000360469.5	+	7	1031	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	CDH4_ENST00000543233.1_Missense_Mutation_p.R241W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	315	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding	p.R315W(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGGATGGTGCGGTACCGGAT	0.612000													6	113					0	0	1	0	0
EIF2S3	1968	broad.mit.edu	37	X	24084113	24084113	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:24084113A>T	ENST00000253039.4	+	8	1025		c.e8-1			NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa							cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GTTTTATTTTAGTTATTAGAT	0.303000													7	61					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94526868	94526868	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:94526868A>T	ENST00000330836.5	-	5	1620	c.1489T>A	c.(1489-1491)Tac>Aac	p.Y497N	DDX24_ENST00000555054.1_Missense_Mutation_p.Y454N|DDX24_ENST00000544005.1_Missense_Mutation_p.Y247N	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	497	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTGGGTTGTATTGGGAGTCA	0.498000													6	431					0	0	1	0	0
DAPL1	92196	broad.mit.edu	37	2	159672329	159672329	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:159672329G>T	ENST00000309950.3	+	4	376	c.320G>T	c.(319-321)tGt>tTt	p.C107F	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	107					apoptosis|cell differentiation					prostate(1)	1						CCTCGAAAATGTTAAGCCTGG	0.478000													7	110					2.10051e-16	2.42725e-16	1	1	0
OR13C8	138802	broad.mit.edu	37	9	107331538	107331538	+	Silent	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:107331538A>T	ENST00000335040.1	+	1	90	c.90A>T	c.(88-90)ctA>ctT	p.L30L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTCGTTCTAATTTTGTGGA	0.433000													6	394					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800205	27800205	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:27800205C>T	ENST00000408964.2	+	1	817	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	256										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TATGAAGCCACTGCAGCAAAC	0.448000													3	141					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75404083	75404083	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:75404083C>T	ENST00000297784.5	+	15	1614	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	TMC1_ENST00000340019.3_Silent_p.V358V|TMC1_ENST00000396237.3_Silent_p.V358V	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	358					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGAAAACGTCCACTTGATCA	0.413000													6	250					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1955186	1955186	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:1955186G>A	ENST00000382895.3	+	14	2704	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H	WHSC1_ENST00000382891.5_Missense_Mutation_p.R758H|WHSC1_ENST00000382892.2_Missense_Mutation_p.R758H|WHSC1_ENST00000382888.3_Missense_Mutation_p.R106H|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.R758H	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	758					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CGAGGTTTCCGCTGCCCCCTC	0.517000			T	IGH@	MM								9	445					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131925	82131925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:82131925C>T	ENST00000199936.4	+	5	1241	c.1048C>T	c.(1048-1050)Ctt>Ttt	p.L350F	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	350					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GTGGATCTGCCTTGCTCACTA	0.483000													105	176					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155533589	155533589	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:155533589T>A	ENST00000404648.3	-	2	318		c.e2-2		FGG_ENST00000336098.3_Splice_Site|FGG_ENST00000407946.1_Splice_Site|FGG_ENST00000405164.1_Splice_Site	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain						platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGCAACATACTAAAAGAGAAA	0.358000													7	112					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292832	102292832	+	RNA	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:102292832G>C	ENST00000561463.1	+	0	878																											GAAGACACTCGTGGAGGCGTC	0.597000													2	6					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245022119	245022119	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:245022119T>C	ENST00000444376.2	-	6	1319	c.1085A>G	c.(1084-1086)tAt>tGt	p.Y362C	HNRNPU_ENST00000283179.9_Missense_Mutation_p.Y381C	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	381	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTTAGAGAATACCCATAAGA	0.289000													6	15					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213178426	213178426	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:213178426A>G	ENST00000366962.3	-	5	1237	c.1083T>C	c.(1081-1083)taT>taC	p.Y361Y	ANGEL2_ENST00000360506.2_Silent_p.Y192Y|ANGEL2_ENST00000544555.1_Silent_p.Y192Y|ANGEL2_ENST00000540642.1_Silent_p.Y235Y|ANGEL2_ENST00000535388.1_Silent_p.Y192Y	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	361										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTATGAAACTATATAGTGGAG	0.408000													87	61					0	0	1	0	0
GRSF1	2926	broad.mit.edu	37	4	71693661	71693661	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:71693661T>G	ENST00000254799.6	-	6	1160	c.1043A>C	c.(1042-1044)aAg>aCg	p.K348T	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.K230T|GRSF1_ENST00000439371.1_Missense_Mutation_p.K186T|GRSF1_ENST00000502323.1_Missense_Mutation_p.K186T	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	348					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGTTATATACTTAGCAGTAGG	0.373000													79	139					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80521382	80521382	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:80521382C>A	ENST00000335255.5	+	2	746	c.572C>A	c.(571-573)gCc>gAc	p.A191D		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	191					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GACACCATGGCCCACCTCATC	0.612000													6	205					1	1	1	1	0
ACVR1B	91	broad.mit.edu	37	12	52385669	52385669	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:52385669G>A	ENST00000257963.4	+	8	1361	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L	ACVR1B_ENST00000542485.1_Silent_p.L376L|ACVR1B_ENST00000426655.2_Silent_p.L428L|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000541224.1_Silent_p.L469L	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	428	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AATATCAGCTGCCATATTACG	0.463000													7	356					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24975507	24975507	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:24975507T>A	ENST00000323848.9	+	4	707	c.392T>A	c.(391-393)aTa>aAa	p.I131K	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.I131K|SRRM1_ENST00000374389.4_Missense_Mutation_p.I131K|SRRM1_ENST00000537199.1_Missense_Mutation_p.I30K	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	131	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AAAGAAGAAATAAAACAAAGA	0.438000													5	101					0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100828168	100828168	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:100828168G>T	ENST00000355338.2	-	3	808	c.190C>A	c.(190-192)Cca>Aca	p.P64T	WARS_ENST00000554084.1_5'UTR|WARS_ENST00000344102.5_Missense_Mutation_p.P23T|WARS_ENST00000556645.1_Missense_Mutation_p.P23T|WARS_ENST00000557135.1_Missense_Mutation_p.P64T|WARS_ENST00000392882.2_Missense_Mutation_p.P64T|WARS_ENST00000358655.4_Missense_Mutation_p.P23T	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	64	WHEP-TRS.				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GGGTTCCCTGGAGGACAGTCA	0.493000													13	341					1.5842e-08	1.74742e-08	1	1	0
UBR2	23304	broad.mit.edu	37	6	42541500	42541500	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42541500G>A	ENST00000372899.1	+	2	365	c.107G>A	c.(106-108)aGa>aAa	p.R36K	UBR2_ENST00000372901.1_Missense_Mutation_p.R36K|UBR2_ENST00000372903.2_Missense_Mutation_p.R36K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	36					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GACCTCACTAGAGAAGTGTAC	0.403000													324	162					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60766001	60766001	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:60766001C>T	ENST00000446119.2	+	4	1057	c.38C>T	c.(37-39)gCc>gTc	p.A13V	MRC2_ENST00000303375.5_Silent_p.S1067S			Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	0					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTGGCCCTAGCCCTGCTCCCA	0.637000													13	140					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63824841	63824841	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:63824841A>T	ENST00000558285.1	+	1	137	c.36A>T	c.(34-36)ttA>ttT	p.L12F	USP3_ENST00000380324.3_Intron|USP3_ENST00000268049.7_Intron|USP3_ENST00000540797.1_Intron|USP3_ENST00000536001.1_Intron|USP3_ENST00000539772.1_Intron			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	0					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TTTTCTTTTTATTAGTGTGCC	0.368000													4	127					0	0	1	0	0
FAM9B	171483	broad.mit.edu	37	X	9000465	9000465	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:9000465G>A	ENST00000362066.3	-	2	389	c.201C>T	c.(199-201)aaC>aaT	p.N67N	FAM9B_ENST00000428477.1_Silent_p.N22N|FAM9B_ENST00000327220.5_Silent_p.N22N			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	22						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CTGTAAAACGGTTTCTTTCCT	0.398000													5	185					0	0	1	0	0
SYTL1	84958	broad.mit.edu	37	1	27680218	27680218	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:27680218C>T	ENST00000543823.1	+	14	2026	c.1564C>T	c.(1564-1566)Ctg>Ttg	p.L522L	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.L510L			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	522					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCTATGGGCTGCAGGTGCC	0.617000													3	36					0	0	1	0	0
MT-ND6	4541	broad.mit.edu	37	MT	14556	14556	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrM:14556A>G	ENST00000361681.2	-	1	117	c.118T>C	c.(118-120)Tgt>Cgt	p.C40R						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						AATAATAACACACCCGACCAC	0.393000													18	0					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:88967931A>T	ENST00000237596.2	+	6	1523	c.1457A>T	c.(1456-1458)tAc>tTc	p.Y486F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	486						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTATCTTTTACTATGTGGTG	0.383000													9	232					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51447559	51447559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:51447559A>T	ENST00000418425.2	+	4	448		c.e4-1		LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000262055.4_Splice_Site	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ATTTCTGCTTAGTTCCGCCAA	0.403000													8	536					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46058626	46058626	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:46058626G>T	ENST00000536708.2	+	13	1565	c.1456G>T	c.(1456-1458)Gca>Tca	p.A486S	RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.A461S	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	461					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GCAGCAGGAGGCACTTGAGGA	0.567000													6	157					1.26484e-09	1.40367e-09	1	1	0
CACNB2	783	broad.mit.edu	37	10	18787304	18787304	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:18787304G>A	ENST00000396576.2	+	3	690	c.189G>A	c.(187-189)gcG>gcA	p.A63A	CACNB2_ENST00000377319.3_Silent_p.A63A|CACNB2_ENST00000352115.6_Silent_p.A118A|CACNB2_ENST00000377315.4_Silent_p.A70A|CACNB2_ENST00000324631.7_Silent_p.A118A|CACNB2_ENST00000377331.2_Silent_p.A90A|CACNB2_ENST00000282343.8_Silent_p.A90A|CACNB2_ENST00000377329.4_Silent_p.A64A|CACNB2_ENST00000377328.1_Silent_p.A118A	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	118					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTGCATTTGCGGTTCGGACAA	0.448000													3	91					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184801098	184801098	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:184801098T>A	ENST00000367511.3	-	6	795		c.e6-2		FAM129A_ENST00000487074.1_Splice_Site	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A						negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCATGTAATCTAAAGAAAAGA	0.408000													5	125					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136599018	136599018	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:136599018G>A	ENST00000371872.4	-	2	535	c.278C>T	c.(277-279)gCg>gTg	p.A93V	SARDH_ENST00000371867.1_Missense_Mutation_p.A4V|SARDH_ENST00000422262.2_Intron|SARDH_ENST00000298628.5_Missense_Mutation_p.A93V|SARDH_ENST00000439388.1_Missense_Mutation_p.A93V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	93					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGCAGCACCGCCCCACTCAT	0.692000													4	44					0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70301574	70301574	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:70301574T>C	ENST00000261772.8	-	9	1353	c.1210A>G	c.(1210-1212)Aag>Gag	p.K404E		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	404					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GGAATGGTCTTGCTGTCTCCC	0.512000											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	35					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688523	109688523	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:109688523T>G	ENST00000277225.5	+	3	2619	c.2330T>G	c.(2329-2331)aTc>aGc	p.I777S	ZNF462_ENST00000457913.1_Missense_Mutation_p.I777S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	777					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTCAGAAACATCACCCACGAT	0.468000													4	197					0	0	1	0	0
GALT	2592	broad.mit.edu	37	9	34650390	34650390	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:34650390C>T	ENST00000378842.3	+	11	1126	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	GALT_ENST00000488412.2_3'UTR|GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Missense_Mutation_p.P253S	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	362					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AAGGGCACTTCCTGAGGTTCA	0.522000									Galactosemia				34	118					0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16168712	16168712	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:16168712T>A	ENST00000380289.2	+	2	1096	c.698T>A	c.(697-699)aTt>aAt	p.I233N		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	233					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TACTACTTCATTGCTAAAAAT	0.428000													5	104					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6266851	6266851	+	Nonsense_Mutation	SNP	C	C	G	rs121434305		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:6266851C>G	ENST00000344683.5	+	2	150	c.74C>G	c.(73-75)tCa>tGa	p.S25*	MCPH1_ENST00000522905.1_Nonsense_Mutation_p.S25*|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.S25*	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	25	BRCT 1.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAAAATTATTCAAAGACATTT	0.358000													42	34					0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78975478	78975478	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:78975478T>G	ENST00000453514.1	+	13	1978	c.1285T>G	c.(1285-1287)Tac>Gac	p.Y429D	PAPD4_ENST00000504233.1_Missense_Mutation_p.Y386D|PAPD4_ENST00000423041.2_Missense_Mutation_p.Y425D|PAPD4_ENST00000428308.2_Missense_Mutation_p.Y429D|PAPD4_ENST00000296783.3_Missense_Mutation_p.Y429D	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	429	PAP-associated.				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GAGAAATAAATACATCTGTGT	0.348000													46	76					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90185512	90185512	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:90185512C>A	ENST00000394412.3	-	11	2392	c.2316G>T	c.(2314-2316)aaG>aaT	p.K772N		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	772					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTGGAGCTCCTTGCCCTCGA	0.692000													8	12					7.93312e-07	8.72038e-07	0.002450	1	0
RNF6	6049	broad.mit.edu	37	13	26789216	26789216	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:26789216C>A	ENST00000381588.4	-	5	1555	c.803G>T	c.(802-804)aGg>aTg	p.R268M	RNF6_ENST00000381570.3_Missense_Mutation_p.R268M|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.R268M	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	268					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTCCCTTTGCCTGAGTTCACT	0.458000													118	223					1.17312e-48	1.45628e-48	0.014410	1	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938760	119938760	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:119938760G>C	ENST00000297350.4	-	4	1168	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	264	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTATATCTTGGTCTTTGTTT	0.358000													119	254					0	0	0.014410	0	0
SSH2	85464	broad.mit.edu	37	17	28120929	28120929	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:28120929G>A	ENST00000269033.3	-	2	241	c.90C>T	c.(88-90)tgC>tgT	p.C30C	SSH2_ENST00000540801.1_Silent_p.C57C	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	30					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTGTGACCGGCATTCTTCCT	0.328000													4	156					0	0	0.009096	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499808	59499808	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:59499808T>A	ENST00000307144.4	+	1	767	c.669T>A	c.(667-669)atT>atA	p.I223I	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	223					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GTTTCTTGATTGGACAAAAGC	0.438000													56	113					0	0	0.014410	0	0
POC1B	282809	broad.mit.edu	37	12	89818965	89818965	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:89818965A>C	ENST00000393179.4	-	9	1528	c.915T>G	c.(913-915)atT>atG	p.I305M	POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000313546.3_Missense_Mutation_p.I435M|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.I393M					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GTTGTTCCATAATATGCTCTA	0.433000													80	121					0	0	0.014410	0	0
DIP2C	22982	broad.mit.edu	37	10	355983	355983	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:355983A>T	ENST00000280886.6	-	32	4061	c.3974T>A	c.(3973-3975)cTg>cAg	p.L1325Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1325						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCGTGTCTCAGGGCTCTCAT	0.473000													37	96					0	0	0.006230	0	0
ZNF789	285989	broad.mit.edu	37	7	99084134	99084134	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:99084134C>A	ENST00000331410.5	+	5	571	c.301C>A	c.(301-303)Cca>Aca	p.P101T	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAGCTAACTCCAAAACAGAA	0.343000													40	51					4.92203e-23	5.85762e-23	0.006230	1	0
SH2D6	284948	broad.mit.edu	37	2	85662808	85662808	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:85662808G>A	ENST00000389938.2	+	19	1490	c.176G>A	c.(175-177)cGc>cAc	p.R59H	SH2D6_ENST00000340326.2_Missense_Mutation_p.R91H|SH2D6_ENST00000481426.2_3'UTR			Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	91										central_nervous_system(1)|lung(2)	3						TATACCGTGCGCCCCAGCTCA	0.652000													19	38					0	0	0.007413	0	0
MCPH1	79648	broad.mit.edu	37	8	6266849	6266849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:6266849T>A	ENST00000344683.5	+	2	148	c.72T>A	c.(70-72)taT>taA	p.Y24*	MCPH1_ENST00000522905.1_Nonsense_Mutation_p.Y24*|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.Y24*	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	24	BRCT 1.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAGAAAATTATTCAAAGACAT	0.363000													58	125					0	0	0.014410	0	0
FAM194A	131831	broad.mit.edu	37	3	150404112	150404112	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:150404112G>A	ENST00000295910.6	-	4	635	c.583C>T	c.(583-585)Cct>Tct	p.P195S	FAM194A_ENST00000491361.1_Missense_Mutation_p.P49S	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	195										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGACATTCAGGTTCAGCTTTC	0.388000													37	157					0	0	0.011902	0	0
LARS2	23395	broad.mit.edu	37	3	45537772	45537772	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:45537772A>G	ENST00000415258.1	+	13	1670	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	LARS2_ENST00000265537.3_Missense_Mutation_p.K510R|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Missense_Mutation_p.K467R			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	510					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CTTAGGTGCAAGGGAGCAGCC	0.363000													103	170					0	0	0.014410	0	0
TENM4	26011	broad.mit.edu	37	11	78369474	78369474	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:78369474C>T	ENST00000278550.7	-	34	8401	c.7939G>A	c.(7939-7941)Gtc>Atc	p.V2647I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.V2647I(2)									GACACAGTGACGTTGACCCCA	0.562000													6	84					0	0	0.003080	0	0
C8A	731	broad.mit.edu	37	1	57351601	57351601	+	Splice_Site	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:57351601A>C	ENST00000361249.3	+	7	953	c.855_splice	c.e7-1	p.K286_splice		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	286	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCTGGCAGAAATTCATTTTC	0.393000													6	62					0	0	0.001984	0	0
TRPC4	7223	broad.mit.edu	37	13	38357441	38357441	+	Silent	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:38357441A>C	ENST00000379705.3	-	2	887	c.30T>G	c.(28-30)gtT>gtG	p.V10V	TRPC4_ENST00000379679.1_Silent_p.V10V|TRPC4_ENST00000426868.2_Silent_p.V10V|TRPC4_ENST00000358477.2_Silent_p.V10V|TRPC4_ENST00000447043.1_Silent_p.V10V|TRPC4_ENST00000355779.2_Silent_p.V10V|TRPC4_ENST00000379673.2_Silent_p.V10V|TRPC4_ENST00000379681.3_Silent_p.V10V|TRPC4_ENST00000338947.5_Silent_p.V10V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	10					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGGAGCATTAACATTTCTTT	0.388000													95	162					0	0	0.014410	0	0
MCM2	4171	broad.mit.edu	37	3	127338092	127338092	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:127338092A>T	ENST00000265056.7	+	13	2480	c.2236A>T	c.(2236-2238)Atg>Ttg	p.M746L	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	746					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GGTGGCCAAGATGTACAGTGA	0.567000													50	103					0	0	0.014410	0	0
ERCC5	2073	broad.mit.edu	37	13	103513996	103513996	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:103513996G>T	ENST00000355739.4	+	7	2235	c.812G>T	c.(811-813)gGc>gTc	p.G271V	BIVM-ERCC5_ENST00000602836.1_Silent_p.G696G	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GATGAAGGGGGCTTTCTGAAG	0.388000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	181					0.000602214	0.000623877	0.000602	1	0
SLC9A8	23315	broad.mit.edu	37	20	48479596	48479596	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:48479596T>G	ENST00000417961.1	+	9	1102	c.892T>G	c.(892-894)Tct>Gct	p.S298A	SLC9A8_ENST00000361573.2_Missense_Mutation_p.S282A|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Missense_Mutation_p.S63A	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	282						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGGCTTAATTTCTGCATTAAT	0.418000													52	150					0	0	0.014410	0	0
PKHD1	5314	broad.mit.edu	37	6	51637542	51637542	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:51637542G>A	ENST00000371117.3	-	55	8875	c.8600C>T	c.(8599-8601)tCc>tTc	p.S2867F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2867F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2867	G8 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGTCCAGGAGTTCTTAGG	0.398000													88	135					0	0	0.014410	0	0
UNC13C	440279	broad.mit.edu	37	15	54307905	54307905	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:54307905A>C	ENST00000545554.1	+	1	2805	c.2805A>C	c.(2803-2805)ttA>ttC	p.L935F	UNC13C_ENST00000260323.11_Missense_Mutation_p.L935F|UNC13C_ENST00000537900.1_Missense_Mutation_p.L935F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	935					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGAGGGGTTAGAACCCTTAA	0.403000													45	56					0	0	0.010771	0	0
ZNF826P	664701	broad.mit.edu	37	19	20607672	20607672	+	RNA	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:20607672G>T	ENST00000502675.1	-	0	90					NR_036455.1															large_intestine(4)	4						CAGAGGCTGGGCCTCTATGAG	0.557000													7	12					3.09899e-07	3.43272e-07	0.004482	1	0
AAR2	25980	broad.mit.edu	37	20	34832710	34832710	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:34832710G>T	ENST00000373932.3	+	3	1195	c.849G>T	c.(847-849)cgG>cgT	p.R283R	AAR2_ENST00000320849.4_Silent_p.R283R|AAR2_ENST00000397286.3_Silent_p.R283R	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		TCCTGTGCCGGTCAGAAGCAG	0.527000													9	127					0.00316338	0.00325376	0.003163	1	0
C1QTNF7	114905	broad.mit.edu	37	4	15437360	15437360	+	Splice_Site	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:15437360A>G	ENST00000295297.4	+	2	273	c.13_splice	c.e2-1	p.E5_splice	C1QTNF7_ENST00000444304.2_5'UTR|C1QTNF7_ENST00000429690.1_5'UTR	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	0						collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TCTCTTCCAGAGCCAAAGATG	0.448000													38	67					0	0	0.006230	0	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423000													3	69					0	0	0.004672	0	0
UTP11L	51118	broad.mit.edu	37	1	38484984	38484984	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:38484984T>A	ENST00000373014.4	+	6	557	c.496T>A	c.(496-498)Ttt>Att	p.F166I	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Intron	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	166					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGACAGAGTCTTTAATAGGCC	0.423000													12	153					0	0	0.010729	0	0
ZSCAN9	7746	broad.mit.edu	37	6	28200339	28200339	+	Splice_Site	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:28200339G>A	ENST00000425468.2	+	5	886		c.e5-1		ZSCAN9_ENST00000252207.5_Splice_Site|ZSCAN9_ENST00000531979.1_Splice_Site	NM_001199479.1	NP_001186408.1			zinc finger and SCAN domain containing 9																		CTTTGTTTCAGATGAAGTAAC	0.408000													44	74					0	0	0.014410	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021150	46021150	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:46021150C>T	ENST00000380102.2	+	1	654	c.629C>T	c.(628-630)aCg>aTg	p.T210M	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	210	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						AGCTCCTGCACGCCCTCGTGC	0.667000													5	128					0	0	0.003080	0	0
KRT28	162605	broad.mit.edu	37	17	38955746	38955746	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:38955746C>T	ENST00000306658.7	-	1	465	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	134	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TAGTCATGATCAAGTCCACGG	0.388000													49	445					0	0	0.014410	0	0
AARS	16	broad.mit.edu	37	16	70301574	70301574	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:70301574T>C	ENST00000261772.8	-	9	1353	c.1210A>G	c.(1210-1212)Aag>Gag	p.K404E		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	404					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GGAATGGTCTTGCTGTCTCCC	0.512000											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	53					0	0	0.005524	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840160	128840160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:128840160G>A	ENST00000310343.9	-	22	4905	c.4906C>T	c.(4906-4908)Cag>Tag	p.Q1636*	ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1287*|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1287*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1636	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCTGAAGCTGAGTGACATGA	0.502000													26	64					0	0	0.005443	0	0
C3orf38	285237	broad.mit.edu	37	3	88199301	88199301	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:88199301C>T	ENST00000318887.3	+	1	409	c.99C>T	c.(97-99)gtC>gtT	p.V33V	C3orf38_ENST00000486971.1_Silent_p.V33V	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	33					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GCGACACTGTCACCAACCGCC	0.617000													36	46					0	0	0.004289	0	0
PDIA6	10130	broad.mit.edu	37	2	10927548	10927548	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:10927548G>T	ENST00000404371.2	-	13	1509	c.1172C>A	c.(1171-1173)gCt>gAt	p.A391D	PDIA6_ENST00000540494.1_Missense_Mutation_p.A336D|PDIA6_ENST00000381611.4_Missense_Mutation_p.A344D|PDIA6_ENST00000272227.3_Missense_Mutation_p.A339D|PDIA6_ENST00000404824.2_Missense_Mutation_p.A387D			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	339					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTGGGCTCCAGCTTCTGTCCA	0.468000													30	48					4.3181e-19	5.01457e-19	0.013726	1	0
ZNF474	133923	broad.mit.edu	37	5	121488728	121488728	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:121488728T>G	ENST00000296600.4	+	2	1426	c.1043T>G	c.(1042-1044)aTt>aGt	p.I348S	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	348						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GATAAGGTAATTCATGCCACA	0.473000													39	84					0	0	0.008740	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302555	15302555	+	Splice_Site	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:15302555C>A	ENST00000263388.2	-	5	878		c.e5+1			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3						Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCAGTGCCCACCTGTCCACTC	0.637000													5	51					3.59834e-05	3.81e-05	0.001168	1	0
CDH9	1007	broad.mit.edu	37	5	26890658	26890658	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:26890658C>T	ENST00000231021.4	-	8	1441	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	423	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATCAGTATGCCGATCAACAG	0.388000													6	213					0	0	0.001168	0	0
SLC12A7	10723	broad.mit.edu	37	5	1076852	1076852	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:1076852T>C	ENST00000264930.5	-	13	1748	c.1705A>G	c.(1705-1707)Atc>Gtc	p.I569V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	569					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGATGAGGATGCCAGTCTCG	0.662000													5	59					0	0	0.001168	0	0
ZNF831	128611	broad.mit.edu	37	20	57768699	57768699	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:57768699G>A	ENST00000371030.2	+	1	2625	c.2625G>A	c.(2623-2625)caG>caA	p.Q875Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	875						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGCCAGGCAGGTGGGCGAGC	0.652000													6	69					0	0	0.001984	0	0
GPR116	221395	broad.mit.edu	37	6	46823756	46823756	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:46823756T>A	ENST00000283296.7	-	20	4204	c.3916A>T	c.(3916-3918)Agt>Tgt	p.S1306C	GPR116_ENST00000545669.1_Missense_Mutation_p.S735C|GPR116_ENST00000265417.7_Missense_Mutation_p.S1306C|GPR116_ENST00000456426.2_Missense_Mutation_p.S1164C|GPR116_ENST00000362015.4_Missense_Mutation_p.S1286C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1306					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTGGAGAACTCATAGAAAAC	0.413000													5	193					0	0	0.000602	0	0
UBR2	23304	broad.mit.edu	37	6	42541661	42541661	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42541661G>A	ENST00000372899.1	+	2	526	c.268G>A	c.(268-270)Gag>Aag	p.E90K	UBR2_ENST00000372903.2_Missense_Mutation_p.E90K|UBR2_ENST00000372901.1_Missense_Mutation_p.E90K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	90					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCCAAAACTTGAGCAAGCAAA	0.388000													434	260					0	0	0.014410	0	0
NWD1	284434	broad.mit.edu	37	19	16910759	16910759	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16910759G>A	ENST00000524140.2	+	17	3940	c.3522G>A	c.(3520-3522)gtG>gtA	p.V1174V	NWD1_ENST00000552788.1_Silent_p.V1174V|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Silent_p.V968V|NWD1_ENST00000379808.3_Silent_p.V1174V|NWD1_ENST00000339803.6_Silent_p.V1039V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1174							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGCCCCCGTGAGCCTGCTGG	0.617000													36	61					0	0	0.010771	0	0
SIK3	23387	broad.mit.edu	37	11	116968939	116968939	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:116968939A>T	ENST00000375300.1	-	1	198	c.193T>A	c.(193-195)Tac>Aac	p.Y65N	SIK3_ENST00000542607.1_Missense_Mutation_p.Y7N|SIK3_ENST00000292055.4_Missense_Mutation_p.Y7N|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.Y65N			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	7	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATCTCGTAGTAGCCGATACGG	0.751000													4	1					0	0	0.000602	0	0
ATP8A1	10396	broad.mit.edu	37	4	42618092	42618092	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:42618092G>C	ENST00000381668.5	-	5	598	c.367C>G	c.(367-369)Cga>Gga	p.R123G	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	123					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCTTTATGTCGTTTCTAAAGT	0.299000													39	84					0	0	0.008740	0	0
VARS2	57176	broad.mit.edu	37	6	30890912	30890912	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:30890912C>T	ENST00000321897.5	+	23	2849	c.2217C>T	c.(2215-2217)gtC>gtT	p.V739V	VARS2_ENST00000416670.2_Silent_p.V739V|VARS2_ENST00000542001.1_Silent_p.V599V|VARS2_ENST00000541562.1_Silent_p.V769V|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	739					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTCTGAGGTCCAGAGCTGCC	0.542000													93	95					0	0	0.014410	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618806	77618806	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:77618806A>G	ENST00000521891.2	+	2	2931	c.2483A>G	c.(2482-2484)aAc>aGc	p.N828S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.N828S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N828S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N828S|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	828						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAGCCCAGAACATAGGCCTG	0.542000										HNSCC(33;0.089)			11	18					0	0	0.010729	0	0
KMT2C	58508	broad.mit.edu	37	7	151842348	151842348	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:151842348G>T	ENST00000355193.2	-	55	14453	c.14235C>A	c.(14233-14235)acC>acA	p.T4745T	KMT2C_ENST00000262189.6_Silent_p.T4688T					lysine (K)-specific methyltransferase 2C																		CGTATCGGAAGGTATAATTTT	0.483000													36	80					2.09667e-21	2.45463e-21	0.003755	1	0
EDNRB	1910	broad.mit.edu	37	13	78477314	78477314	+	Missense_Mutation	SNP	C	C	A	rs77132068	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:78477314C>A	ENST00000377211.4	-	4	1200	c.1048G>T	c.(1048-1050)Gtt>Ttt	p.V350F	EDNRB_ENST00000446573.1_Missense_Mutation_p.V260F|EDNRB_ENST00000334286.5_Missense_Mutation_p.V260F	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	260					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GTCTTCTGAACGGGATGAAGC	0.408000													25	262					9.57634e-11	1.08582e-10	0.003330	1	0
DDX60L	91351	broad.mit.edu	37	4	169392986	169392986	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:169392986C>T	ENST00000511577.1	-	4	423	c.176G>A	c.(175-177)gGa>gAa	p.G59E	DDX60L_ENST00000515088.1_5'UTR|DDX60L_ENST00000505890.1_Missense_Mutation_p.G59E|DDX60L_ENST00000260184.7_Missense_Mutation_p.G59E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	59							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAGATTCTGTCCCCACTTGAA	0.353000													45	92					0	0	0.011902	0	0
MPRIP	23164	broad.mit.edu	37	17	17064559	17064559	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:17064559G>C	ENST00000395811.5	+	15	2141	c.2052G>C	c.(2050-2052)gaG>gaC	p.E684D	MPRIP_ENST00000341712.4_Missense_Mutation_p.E684D|MPRIP_ENST00000395804.3_Missense_Mutation_p.E684D|MPRIP_ENST00000444976.1_Missense_Mutation_p.E646D	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	684	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AACAGCTGGAGCAGAGCCAGA	0.567000													22	23					0	0	0.003330	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179360386	179360386	+	Splice_Site	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:179360386T>G	ENST00000234453.4	+	5	1016	c.615_splice	c.e5+1	p.M205_splice		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	205						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CCTGTTCAAATGGTTTGAACT	0.398000													97	223					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9046473	9046473	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:9046473C>T	ENST00000397910.4	-	5	35361	c.35158G>A	c.(35158-35160)Gcc>Acc	p.A11720T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11722	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACTGGTGGCCATTACAGGT	0.517000													4	143					0	0	0.009096	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602905	138602905	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:138602905A>G	ENST00000440172.1	-	2	1515	c.1467T>C	c.(1465-1467)ccT>ccC	p.P489P	KIAA1549_ENST00000422774.1_Silent_p.P489P|KIAA1549_ENST00000242365.4_Silent_p.P439P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	489						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGGGACGATAGGTCTGGAGG	0.458000			O	BRAF	pilocytic astrocytoma								17	27					0	0	0.004990	0	0
EPS15L1	58513	broad.mit.edu	37	19	16539554	16539554	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16539554T>A	ENST00000602009.1	-	2	950	c.55A>T	c.(55-57)Att>Ttt	p.I19F	EPS15L1_ENST00000248070.6_Missense_Mutation_p.I173F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I173F			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	173	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCCTTGTCAATGTCACTGAGG	0.577000													7	22					0	0	0.004482	0	0
DAPL1	92196	broad.mit.edu	37	2	159672329	159672329	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:159672329G>T	ENST00000309950.3	+	4	376	c.320G>T	c.(319-321)tGt>tTt	p.C107F	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	107					apoptosis|cell differentiation					prostate(1)	1						CCTCGAAAATGTTAAGCCTGG	0.478000													15	111					6.31663e-08	7.10621e-08	0.003163	1	0
SRGAP2	23380	broad.mit.edu	37	1	206566922	206566922	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:206566922G>T	ENST00000414007.1	+	3	303	c.303G>T	c.(301-303)gaG>gaT	p.E101D	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	241					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AGTACACGGAGAATAAGCTGA	0.423000													5	119					0.000157383	0.000165425	0.003080	1	0
HSD17B2	3294	broad.mit.edu	37	16	82131925	82131925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:82131925C>T	ENST00000199936.4	+	5	1241	c.1048C>T	c.(1048-1050)Ctt>Ttt	p.L350F	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	350					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GTGGATCTGCCTTGCTCACTA	0.483000													92	157					0	0	0.014410	0	0
SLIT1	6585	broad.mit.edu	37	10	98817000	98817000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:98817000C>T	ENST00000266058.4	-	12	1369	c.1124G>A	c.(1123-1125)gGt>gAt	p.G375D	SLIT1_ENST00000371070.4_Missense_Mutation_p.G375D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	375					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAAACACACCACGGGGGAG	0.567000													33	64					0	0	0.004878	0	0
VRTN	55237	broad.mit.edu	37	14	74823530	74823530	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:74823530T>G	ENST00000256362.4	+	2	285	c.44T>G	c.(43-45)cTg>cGg	p.L15R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	15					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGCAGGAGCTGCAGGAAGCA	0.587000													27	45					0	0	0.004878	0	0
CHST10	9486	broad.mit.edu	37	2	101009797	101009797	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:101009797G>C	ENST00000264249.3	-	7	1366	c.981C>G	c.(979-981)atC>atG	p.I327M	CHST10_ENST00000409701.1_Missense_Mutation_p.I327M|CHST10_ENST00000542617.1_Missense_Mutation_p.I375M	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	327					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTCGTTTGCTGATGCCCAGGA	0.488000													14	204					0	0	0.003163	0	0
AVIL	10677	broad.mit.edu	37	12	58207197	58207197	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:58207197C>A	ENST00000537081.1	-	3	129	c.130G>T	c.(130-132)Gtg>Ttg	p.V44L	AVIL_ENST00000257861.3_Missense_Mutation_p.V51L			O75366	AVIL_HUMAN	advillin	51	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTGGCCACTCTCCGGGTC	0.577000													48	81					8.04919e-23	9.50068e-23	0.014410	1	0
HTR7	3363	broad.mit.edu	37	10	92616929	92616929	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:92616929G>A	ENST00000371721.3	-	1	742	c.500C>T	c.(499-501)aCg>aTg	p.T167M	HTR7_ENST00000277874.6_Missense_Mutation_p.T167M|HTR7_ENST00000371719.2_Missense_Mutation_p.T167M|HTR7_ENST00000336152.3_Missense_Mutation_p.T167M			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	167					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GATCGAGGCCGTGCAGCACAT	0.617000													3	39					0	0	0.004672	0	0
PIDD	55367	broad.mit.edu	37	11	804239	804239	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:804239C>T	ENST00000347755.5	-	2	291	c.150G>A	c.(148-150)ctG>ctA	p.L50L	PIDD_ENST00000411829.2_Silent_p.L50L|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	50					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										ACAGGTGCAGCAGCTGCTGGC	0.657000													10	16					0	0	0.003163	0	0
EIF1	10209	broad.mit.edu	37	17	39846195	39846195	+	Splice_Site	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:39846195T>C	ENST00000469257.1	+	2	341		c.e2+2		EIF1_ENST00000310837.4_Intron|EIF1_ENST00000591776.1_Splice_Site|JUP_ENST00000540235.1_Intron			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTAAGAAAGTAGGTCTTCAG	0.423000											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	81					0	0	0.014410	0	0
ZNF484	83744	broad.mit.edu	37	9	95610604	95610604	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:95610604A>G	ENST00000395505.2	-	3	449	c.357T>C	c.(355-357)taT>taC	p.Y119Y	ZNF484_ENST00000395506.3_Silent_p.Y157Y|ZNF484_ENST00000332591.6_Silent_p.Y119Y|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Silent_p.Y155Y	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CAATGTCCTTATATTCAAAGA	0.373000													162	279					0	0	0.014410	0	0
HNRNPU	3192	broad.mit.edu	37	1	245022119	245022119	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:245022119T>C	ENST00000444376.2	-	6	1319	c.1085A>G	c.(1084-1086)tAt>tGt	p.Y362C	HNRNPU_ENST00000283179.9_Missense_Mutation_p.Y381C	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	381	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTTAGAGAATACCCATAAGA	0.289000													4	94					0	0	0.009096	0	0
ANGEL2	90806	broad.mit.edu	37	1	213178426	213178426	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:213178426A>G	ENST00000366962.3	-	5	1237	c.1083T>C	c.(1081-1083)taT>taC	p.Y361Y	ANGEL2_ENST00000535388.1_Silent_p.Y192Y|ANGEL2_ENST00000360506.2_Silent_p.Y192Y|ANGEL2_ENST00000540642.1_Silent_p.Y235Y|ANGEL2_ENST00000544555.1_Silent_p.Y192Y	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	361										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTATGAAACTATATAGTGGAG	0.408000													58	98					0	0	0.014410	0	0
GRSF1	2926	broad.mit.edu	37	4	71693661	71693661	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:71693661T>G	ENST00000254799.6	-	6	1160	c.1043A>C	c.(1042-1044)aAg>aCg	p.K348T	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.K186T|GRSF1_ENST00000545193.1_Missense_Mutation_p.K230T|GRSF1_ENST00000439371.1_Missense_Mutation_p.K186T	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	348					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGTTATATACTTAGCAGTAGG	0.373000													147	262					0	0	0.014410	0	0
TSNAX	7257	broad.mit.edu	37	1	231700333	231700333	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:231700333C>A	ENST00000366639.4	+	6	713	c.555C>A	c.(553-555)gtC>gtA	p.V185V	TRAX_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	185	Interaction with C1D.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TCACACCTGTCGATTACCTTC	0.458000													164	282					1.74763e-85	2.22707e-85	0.014410	1	0
IRS1	3667	broad.mit.edu	37	2	227662313	227662313	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:227662313C>T	ENST00000305123.4	-	1	2162	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	381	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGGCGAGCAGCGGGAAGCCGG	0.677000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	44					0	0	0.009096	0	0
SYCE1	93426	broad.mit.edu	37	10	135370646	135370646	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:135370646A>G	ENST00000368517.3	-	7	419	c.281T>C	c.(280-282)tTg>tCg	p.L94S	SYCE1_ENST00000432597.2_Missense_Mutation_p.L94S|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.L130S	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	130					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCACTCCTGCAACATGGTGTG	0.547000													189	561					0	0	0.014410	0	0
BUB1B	701	broad.mit.edu	37	15	40476084	40476084	+	Splice_Site	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:40476084G>C	ENST00000287598.6	+	6	946	c.751_splice	c.e6+1	p.A251_splice	BUB1B_ENST00000412359.3_Splice_Site_p.A265_splice	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	251					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGCTCTCAAGGGTAAGTTTGT	0.388000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				20	42					0	0	0.008871	0	0
TNNT2	7139	broad.mit.edu	37	1	201335996	201335996	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:201335996C>A	ENST00000509001.1	-	7	459	c.173G>T	c.(172-174)gGc>gTc	p.G58V	TNNT2_ENST00000360372.4_Missense_Mutation_p.G53V|TNNT2_ENST00000367318.5_Missense_Mutation_p.G58V|TNNT2_ENST00000367320.2_Missense_Mutation_p.G67V|TNNT2_ENST00000367315.2_Missense_Mutation_p.G58V|TNNT2_ENST00000458432.2_Missense_Mutation_p.G70V|TNNT2_ENST00000367322.1_Missense_Mutation_p.G58V|TNNT2_ENST00000421663.2_Missense_Mutation_p.G60V|TNNT2_ENST00000367317.4_Missense_Mutation_p.G58V|TNNT2_ENST00000236918.7_Missense_Mutation_p.G63V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	68					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CTCCATTGGGCCATCTGGAGG	0.597000													57	99					9.72345e-25	1.16681e-24	0.014410	1	0
RPS19	6223	broad.mit.edu	37	19	42364899	42364899	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:42364899G>T	ENST00000598742.1	+	2	427	c.55G>T	c.(55-57)Gca>Tca	p.A19S	RPS19_ENST00000221975.2_5'UTR|RPS19_ENST00000593863.1_Missense_Mutation_p.A19S	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	19			LA -> E (in DBA1).		endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						CAGAGCTCTGGCAGCCTTCCT	0.557000									Diamond-Blackfan Anemia				70	176					6.86016e-32	8.37172e-32	0.014410	1	0
UBR2	23304	broad.mit.edu	37	6	42541500	42541500	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42541500G>A	ENST00000372899.1	+	2	365	c.107G>A	c.(106-108)aGa>aAa	p.R36K	UBR2_ENST00000372903.2_Missense_Mutation_p.R36K|UBR2_ENST00000372901.1_Missense_Mutation_p.R36K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	36					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GACCTCACTAGAGAAGTGTAC	0.403000													476	300					0	0	0.014410	0	0
DGCR14	8220	broad.mit.edu	37	22	19127229	19127229	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:19127229T>C	ENST00000252137.6	-	5	627	c.584A>G	c.(583-585)aAt>aGt	p.N195S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	195					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GAGTTCGAGATTATCTTTCTG	0.562000													5	185					0	0	0.001168	0	0
AHNAK	79026	broad.mit.edu	37	11	62295549	62295549	+	Missense_Mutation	SNP	C	C	T	rs1298288		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:62295549C>T	ENST00000378024.4	-	5	6614	c.6340G>A	c.(6340-6342)Gcc>Acc	p.A2114T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2114			A -> T (in dbSNP:rs1298288).		nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTTGGGGGCCTTGAAGTGC	0.507000													6	530					0	0	0.001168	0	0
KLF13	51621	broad.mit.edu	37	15	31664225	31664225	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:31664225T>C	ENST00000307145.3	+	2	948	c.590T>C	c.(589-591)tTc>tCc	p.F197S	KLF13_ENST00000560473.1_Missense_Mutation_p.F9S	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	197					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		GAGAGGCCCTTCGCCTGCAGC	0.662000													4	11					0	0	0.009096	0	0
LRIG3	121227	broad.mit.edu	37	12	59284527	59284527	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:59284527C>G	ENST00000320743.3	-	4	721	c.435G>C	c.(433-435)caG>caC	p.Q145H	LRIG3_ENST00000379141.4_Missense_Mutation_p.Q85H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	145						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCAAGGGACTGAAACTCTT	0.388000			T	ROS1	NSCLC								13	128					0	0	0.013537	0	0
TIPIN	54962	broad.mit.edu	37	15	66641437	66641437	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:66641437C>G	ENST00000261881.4	-	6	521	c.436G>C	c.(436-438)Gat>Cat	p.D146H	TIPIN_ENST00000367709.4_Missense_Mutation_p.D45H	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	146					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						ATAGGGAGATCAAGTCGAATT	0.294000													4	51					0	0	0.009096	0	0
FAM9B	171483	broad.mit.edu	37	X	9000465	9000465	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:9000465G>A	ENST00000362066.3	-	2	389	c.201C>T	c.(199-201)aaC>aaT	p.N67N	FAM9B_ENST00000428477.1_Silent_p.N22N|FAM9B_ENST00000327220.5_Silent_p.N22N			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	22						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CTGTAAAACGGTTTCTTTCCT	0.398000													5	251					0	0	0.001168	0	0
GPR179	440435	broad.mit.edu	37	17	36484110	36484110	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:36484110G>T	ENST00000342292.4	-	11	5362	c.5342C>A	c.(5341-5343)gCt>gAt	p.A1781D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1781						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGTCCATCAGCATCTAGAGT	0.572000													126	152					6.9661e-66	8.79929e-66	0.014410	1	0
TDRD7	23424	broad.mit.edu	37	9	100249509	100249509	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:100249509G>A	ENST00000355295.4	+	16	3266	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	TDRD7_ENST00000540902.1_Missense_Mutation_p.E311K|TDRD7_ENST00000422139.2_Missense_Mutation_p.E917K	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	991	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATCTGTGTATGAGCTGGATTA	0.418000													5	219					0	0	0.000602	0	0
CACNA1G	8913	broad.mit.edu	37	17	48677037	48677037	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:48677037G>T	ENST00000352832.5	+	16	3810	c.3438G>T	c.(3436-3438)aaG>aaT	p.K1146N	CACNA1G_ENST00000510115.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K1146N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.K1169N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1169N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1169					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGAGGCCAAGAGTTCCTTTG	0.642000													9	38					0.000442599	0.000461843	0.006214	1	0
RORA	6095	broad.mit.edu	37	15	60806849	60806849	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:60806849T>A	ENST00000335670.6	-	4	490	c.390A>T	c.(388-390)ttA>ttT	p.L130F	RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.L75F|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.L155F|RORA_ENST00000261523.5_Missense_Mutation_p.L163F|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	163					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GGCATTTCTGTAATCGACAGT	0.498000													80	127					0	0	0.014410	0	0
WBP11	51729	broad.mit.edu	37	12	14947533	14947533	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:14947533C>G	ENST00000261167.2	-	7	892	c.659G>C	c.(658-660)gGt>gCt	p.G220A	WBP11_ENST00000537574.1_Missense_Mutation_p.G220A	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	220	Interaction with PP1 (By similarity).				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TAGGGCAAAACCCACTTTACG	0.502000													145	302					0	0	0.014410	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779265	156779265	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156779265C>G	ENST00000392306.2	-	7	901	c.762G>C	c.(760-762)agG>agC	p.R254S	SH2D2A_ENST00000368198.3_Missense_Mutation_p.R226S|SH2D2A_ENST00000368199.3_Missense_Mutation_p.R244S	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	244	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCTTGGGCCTGAGCAGCT	0.657000													6	129					0	0	0.001984	0	0
PSD3	23362	broad.mit.edu	37	8	18725291	18725291	+	Silent	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:18725291T>G	ENST00000440756.2	-	4	1629	c.1527A>C	c.(1525-1527)gcA>gcC	p.A509A	PSD3_ENST00000327040.8_Silent_p.A509A|PSD3_ENST00000523619.1_Silent_p.A444A			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	509					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGCCACCATCTGCAGACACAC	0.522000													125	194					0	0	0.014410	0	0
TMC5	79838	broad.mit.edu	37	16	19488785	19488785	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:19488785T>A	ENST00000396229.2	+	13	2863	c.2114T>A	c.(2113-2115)aTc>aAc	p.I705N	TMC5_ENST00000564959.1_Missense_Mutation_p.I388N|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.I346N|TMC5_ENST00000541464.1_Missense_Mutation_p.I653N|TMC5_ENST00000542583.2_Missense_Mutation_p.I705N|TMC5_ENST00000381414.4_Missense_Mutation_p.I705N|TMC5_ENST00000219821.5_Missense_Mutation_p.I459N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	705						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAAATATCAATCATTGGCATT	0.393000													99	175					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179584535	179584535	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:179584535G>A	ENST00000589042.1	-	82	23908	c.23684C>T	c.(23683-23685)cCc>cTc	p.P7895L	TTN_ENST00000591111.1_Missense_Mutation_p.P7578L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6651L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7578	Ig-like 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGGTTCGGGCTTCTCTAT	0.398000													42	93					0	0	0.009718	0	0
GRPR	2925	broad.mit.edu	37	X	16168712	16168712	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:16168712T>A	ENST00000380289.2	+	2	1096	c.698T>A	c.(697-699)aTt>aAt	p.I233N		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	233					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TACTACTTCATTGCTAAAAAT	0.428000													4	108					0	0	0.009096	0	0
MYCBP2	23077	broad.mit.edu	37	13	77798620	77798620	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:77798620G>T	ENST00000407578.2	-	20	3171	c.2905C>A	c.(2905-2907)Cat>Aat	p.H969N	MYCBP2_ENST00000544440.2_Missense_Mutation_p.H931N|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H931N	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	931					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTGCCCATGCTGCCCATAA	0.348000													45	95					2.01872e-29	2.44282e-29	0.014410	1	0
RICTOR	253260	broad.mit.edu	37	5	38945658	38945658	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:38945658C>G	ENST00000357387.3	-	34	4598	c.4568G>C	c.(4567-4569)tGt>tCt	p.C1523S	RICTOR_ENST00000296782.5_Missense_Mutation_p.C1547S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1523					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AATACAGACACAATAAAGGCA	0.403000													51	128					0	0	0.014410	0	0
TACC2	10579	broad.mit.edu	37	10	123984267	123984267	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:123984267A>G	ENST00000369005.1	+	12	7913	c.7573A>G	c.(7573-7575)Att>Gtt	p.I2525V	TACC2_ENST00000513429.1_Missense_Mutation_p.I671V|TACC2_ENST00000260733.3_Missense_Mutation_p.I603V|TACC2_ENST00000515603.1_Missense_Mutation_p.I2480V|TACC2_ENST00000453444.2_Missense_Mutation_p.I2529V|TACC2_ENST00000369000.1_Missense_Mutation_p.I225V|TACC2_ENST00000369001.1_Missense_Mutation_p.I229V|TACC2_ENST00000368999.1_Missense_Mutation_p.I615V|TACC2_ENST00000358010.1_Missense_Mutation_p.I671V|TACC2_ENST00000334433.3_Missense_Mutation_p.I2525V|TACC2_ENST00000369004.3_Missense_Mutation_p.I615V|TACC2_ENST00000360561.3_Missense_Mutation_p.I603V|TACC2_ENST00000515273.1_Missense_Mutation_p.I2529V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2525						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCCTATGAAATTGAATATAT	0.443000													24	364					0	0	0.002780	0	0
ADAM11	4185	broad.mit.edu	37	17	42850678	42850678	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:42850678C>T	ENST00000200557.6	+	11	1044	c.875C>T	c.(874-876)aCa>aTa	p.T292I	ADAM11_ENST00000535346.1_Missense_Mutation_p.T92I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	292	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCCATGGAAACATGGGCAGAT	0.612000													78	143					0	0	0.014410	0	0
IQGAP3	128239	broad.mit.edu	37	1	156509711	156509711	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156509711G>C	ENST00000361170.2	-	24	2821	c.2811C>G	c.(2809-2811)gaC>gaG	p.D937E		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	937					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTCTGCTTGTCCAGAACCA	0.498000													61	97					0	0	0.014410	0	0
NUMA1	4926	broad.mit.edu	37	11	71733393	71733393	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:71733393T>C	ENST00000393695.3	-	7	695	c.364A>G	c.(364-366)Aaa>Gaa	p.K122E	NUMA1_ENST00000351960.6_Missense_Mutation_p.K122E|NUMA1_ENST00000358965.6_Missense_Mutation_p.K122E	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	122					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACCTGAATTTTATATTCAAAC	0.483000			T	RARA	APL								161	194					0	0	0.014410	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102505823	102505823	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:102505823C>T	ENST00000360184.4	+	61	11699	c.11535C>T	c.(11533-11535)aaC>aaT	p.N3845N	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3845					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						AGAACCCGAACCTGAAGGGTG	0.542000													5	126					0	0	0.000602	0	0
TCOF1	6949	broad.mit.edu	37	5	149769510	149769510	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:149769510G>T	ENST00000451292.1	+	20	3326	c.3218G>T	c.(3217-3219)aGc>aTc	p.S1073I	TCOF1_ENST00000513346.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000445265.2_Missense_Mutation_p.S959I|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1036I|TCOF1_ENST00000504761.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000323668.7_Missense_Mutation_p.S959I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1036					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAAAGCCAGCATGGCTGGG	0.582000													28	39					5.45727e-16	6.28677e-16	0.008361	1	0
PRKDC	5591	broad.mit.edu	37	8	48840368	48840368	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:48840368A>G	ENST00000314191.2	-	20	2278	c.2222T>C	c.(2221-2223)aTt>aCt	p.I741T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I741T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	741					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATCGAGTTCAATGATGTTGTG	0.448000								Non-homologous end-joining					25	37					0	0	0.003954	0	0
CDH7	1005	broad.mit.edu	37	18	63547747	63547747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:63547747G>T	ENST00000397968.2	+	12	2401	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*	CDH7_ENST00000323011.3_Nonsense_Mutation_p.G659*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	659					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAGGGCGGGGGAGAGGAGGA	0.478000													8	104					1.06961e-07	1.19399e-07	0.003080	1	0
CTBP2	1488	broad.mit.edu	37	10	126682552	126682552	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:126682552C>T	ENST00000309035.6	-	6	2533	c.2403G>A	c.(2401-2403)atG>atA	p.M801I	CTBP2_ENST00000334808.6_Missense_Mutation_p.M329I|CTBP2_ENST00000411419.2_Missense_Mutation_p.M261I|CTBP2_ENST00000337195.5_Missense_Mutation_p.M261I|CTBP2_ENST00000494626.2_Missense_Mutation_p.M261I|CTBP2_ENST00000531469.1_Missense_Mutation_p.M261I	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	261					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCCCTGCCTCATCTGTGGAA	0.547000													74	118					0	0	0.014410	0	0
MT-ND6	4541	broad.mit.edu	37	MT	14556	14556	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrM:14556A>G	ENST00000361681.2	-	1	117	c.118T>C	c.(118-120)Tgt>Cgt	p.C40R						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						AATAATAACACACCCGACCAC	0.393000													33	3					0	0	0.003755	0	0
NEU1	4758	broad.mit.edu	37	6	31829196	31829196	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:31829196G>A	ENST00000375631.4	-	3	513	c.384C>T	c.(382-384)gtC>gtT	p.V128V		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	128						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	CCCCATCATTGACAATGAACG	0.493000													62	79					0	0	0.014410	0	0
KCNV2	169522	broad.mit.edu	37	9	2718621	2718621	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:2718621C>T	ENST00000382082.3	+	1	1120	c.882C>T	c.(880-882)ggC>ggT	p.G294G		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	294						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AGGGCGAGGGCGGCCCAGACC	0.682000													4	55					0	0	0.000602	0	0
VARS2	57176	broad.mit.edu	37	6	30890728	30890728	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:30890728C>A	ENST00000321897.5	+	22	2792	c.2160C>A	c.(2158-2160)ttC>ttA	p.F720L	VARS2_ENST00000416670.2_Missense_Mutation_p.F720L|VARS2_ENST00000542001.1_Missense_Mutation_p.F580L|VARS2_ENST00000541562.1_Missense_Mutation_p.F750L|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	720					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCTGAGATTCACACTCTGCT	0.612000													104	97					5.19218e-38	6.39037e-38	0.014410	1	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190847	39190847	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:39190847C>T	ENST00000344363.5	-	1	260	c.227G>A	c.(226-228)tGc>tAc	p.C76Y		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	86			Missing (in allele KAP1.9).			extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGTCTGGCAGCAGCTTGG	0.607000													5	63					0	0	0.013537	0	0
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1369										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473000													6	118					0	0	0.001168	0	0
MCPH1	79648	broad.mit.edu	37	8	6266851	6266851	+	Nonsense_Mutation	SNP	C	C	G	rs121434305		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:6266851C>G	ENST00000344683.5	+	2	150	c.74C>G	c.(73-75)tCa>tGa	p.S25*	MCPH1_ENST00000522905.1_Nonsense_Mutation_p.S25*|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.S25*	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	25	BRCT 1.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAAAATTATTCAAAGACATTT	0.358000													59	122					0	0	0.014410	0	0
PAPD4	167153	broad.mit.edu	37	5	78975478	78975478	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:78975478T>G	ENST00000453514.1	+	13	1978	c.1285T>G	c.(1285-1287)Tac>Gac	p.Y429D	PAPD4_ENST00000428308.2_Missense_Mutation_p.Y429D|PAPD4_ENST00000296783.3_Missense_Mutation_p.Y429D|PAPD4_ENST00000423041.2_Missense_Mutation_p.Y425D|PAPD4_ENST00000504233.1_Missense_Mutation_p.Y386D	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	429	PAP-associated.				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GAGAAATAAATACATCTGTGT	0.348000													37	86					0	0	0.010771	0	0
FOXRED2	80020	broad.mit.edu	37	22	36892016	36892016	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:36892016G>T	ENST00000397224.4	-	7	1715	c.1622C>A	c.(1621-1623)aCc>aAc	p.T541N	FOXRED2_ENST00000216187.6_Missense_Mutation_p.T541N|FOXRED2_ENST00000366463.3_Missense_Mutation_p.T93N|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T541N	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	541					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGCTCACCGGTGGGGAGGTA	0.542000													91	137					6.26597e-58	7.84608e-58	0.014410	1	0
VPS33A	65082	broad.mit.edu	37	12	122723269	122723269	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:122723269G>T	ENST00000267199.4	-	10	1279	c.1167C>A	c.(1165-1167)gtC>gtA	p.V389V	RP11-512M8.5_ENST00000535844.1_Silent_p.V350V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	389					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TGTAATTGTTGACCTGGAAAT	0.383000													17	255					2.23348e-06	2.41821e-06	0.004007	1	0
MTDH	92140	broad.mit.edu	37	8	98731381	98731381	+	Silent	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:98731381T>C	ENST00000336273.3	+	10	1813	c.1485T>C	c.(1483-1485)acT>acC	p.T495T	MTDH_ENST00000519934.1_Silent_p.T439T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	495					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CCATAAGCACTAGTGATCCAG	0.413000													85	152					0	0	0.014410	0	0
CT47B1	643311	broad.mit.edu	37	X	120008925	120008925	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:120008925C>T	ENST00000371311.3	-	1	854	c.600G>A	c.(598-600)gcG>gcA	p.A200A		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	200								p.A200A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTGGGACCGACGCGGCCTCCT	0.716000													3	23					0	0	1	0	0
SLC16A4	9122	broad.mit.edu	37	1	110919782	110919782	+	Splice_Site	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:110919782A>G	ENST00000369779.4	-	7	1281	c.1030_splice	c.e7-1	p.G344_splice	SLC16A4_ENST00000472422.2_Splice_Site_p.G296_splice|SLC16A4_ENST00000369781.4_Splice_Site_p.G176_splice|SLC16A4_ENST00000541986.1_Splice_Site_p.G282_splice|SLC16A4_ENST00000437429.2_Splice_Site_p.G234_splice	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	344						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TCTCAAGGATACCTGGAACAA	0.398000													4	362					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31241578	31241578	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr18:31241578A>T	ENST00000269197.5	+	5	355		c.e5-1			NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCTGTTTCTAGTTTGTTCGA	0.378000													3	27					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90185512	90185512	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:90185512C>A	ENST00000394412.3	-	11	2392	c.2316G>T	c.(2314-2316)aaG>aaT	p.K772N		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	772					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTGGAGCTCCTTGCCCTCGA	0.692000													12	16					5.90632e-09	6.79672e-09	1	1	0
RBP3	5949	broad.mit.edu	37	10	48387899	48387899	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:48387899G>A	ENST00000224600.4	-	1	3092	c.2979C>T	c.(2977-2979)tcC>tcT	p.S993S		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	993	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGGGTCTCCGGAGAGCATCT	0.602000													4	46					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124171482	124171482	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:124171482G>A	ENST00000303372.5	+	6	792	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	TCTN2_ENST00000426174.2_Missense_Mutation_p.G221R	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	222					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTGCTCTGCTGGGACGACGAC	0.527000													10	760					0	0	1	0	0
ERCC5	2073	broad.mit.edu	37	13	103513996	103513996	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:103513996G>T	ENST00000355739.4	+	7	2235	c.812G>T	c.(811-813)gGc>gTc	p.G271V	BIVM-ERCC5_ENST00000602836.1_Silent_p.G696G	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GATGAAGGGGGCTTTCTGAAG	0.388000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	315					4.3838e-07	4.92103e-07	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51637542	51637542	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:51637542G>A	ENST00000371117.3	-	55	8875	c.8600C>T	c.(8599-8601)tCc>tTc	p.S2867F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2867F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2867	G8 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGTCCAGGAGTTCTTAGG	0.398000													60	77					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499808	59499808	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:59499808T>A	ENST00000307144.4	+	1	767	c.669T>A	c.(667-669)atT>atA	p.I223I	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	223					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GTTTCTTGATTGGACAAAAGC	0.438000													20	47					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23871982	23871982	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:23871982T>C	ENST00000405093.3	-	11	996	c.926A>G	c.(925-927)tAc>tGc	p.Y309C	MYH6_ENST00000356287.3_Missense_Mutation_p.Y309C	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	309	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGCGTAGTCGTAGGGATTGTT	0.642000													3	69					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19017283	19017283	+	Silent	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:19017283A>T	ENST00000354791.3	-	25	2638	c.2397T>A	c.(2395-2397)atT>atA	p.I799I	GPR64_ENST00000379873.2_Silent_p.I815I|GPR64_ENST00000340581.3_Silent_p.I696I|GPR64_ENST00000360279.4_Silent_p.I793I|GPR64_ENST00000357991.3_Silent_p.I812I|GPR64_ENST00000379869.3_Silent_p.I815I|GPR64_ENST00000356606.4_Silent_p.I801I|GPR64_ENST00000379876.1_Silent_p.I791I|GPR64_ENST00000379878.3_Silent_p.I799I|GPR64_ENST00000357544.3_Silent_p.I785I			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	815					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TCTTCTTTTTAATTCGACAGA	0.433000													4	122					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71196010	71196010	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:71196010G>T	ENST00000299886.4	+	5	1000	c.920G>T	c.(919-921)gGc>gTc	p.G307V		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	307					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTAGGAAAGGGCACTGGTGTC	0.522000													24	198					1.99505e-19	2.43014e-19	1	1	0
SERPINB8	5271	broad.mit.edu	37	18	61650821	61650821	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr18:61650821T>C	ENST00000397985.2	+	5	689	c.433T>C	c.(433-435)Tca>Cca	p.S145P	SERPINB8_ENST00000353706.2_Missense_Mutation_p.S145P|SERPINB8_ENST00000397988.3_Missense_Mutation_p.S145P|SERPINB8_ENST00000542677.1_5'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	145					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGGTAAGATTTCAGAGGTACT	0.398000													4	85					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62649409	62649409	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:62649409G>A	ENST00000377892.1	+	6	1089	c.865G>A	c.(865-867)Ggc>Agc	p.G289S	SLC3A2_ENST00000377889.2_Missense_Mutation_p.G196S|SLC3A2_ENST00000377890.2_Missense_Mutation_p.G258S|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377891.2_Missense_Mutation_p.G259S|SLC3A2_ENST00000338663.7_Missense_Mutation_p.G157S|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G227S|SLC3A2_ENST00000536981.1_5'UTR			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	258					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GAAGGTGAAGGGCCTTGTGCT	0.542000													30	180					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47573899	47573899	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:47573899A>T	ENST00000359314.5	+	14	1873		c.e14-1			NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTATTTTCTAGATGTTGTAA	0.313000													8	204					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78857684	78857684	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:78857684G>T	ENST00000306801.3	+	16	2116	c.1754G>T	c.(1753-1755)tGg>tTg	p.W585L	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	585					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCAGGATCTGGCAGAACTTC	0.642000													5	160					5.9392e-07	6.60231e-07	1	1	0
DCDC1	341019	broad.mit.edu	37	11	30974117	30974117	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:30974117T>A	ENST00000597505.1	-	19	2591		c.e19-2		DCDC1_ENST00000406071.2_Splice_Site|DCDC1_ENST00000339794.5_Splice_Site|DCDC1_ENST00000437348.1_Intron			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGGCCCACCTAAAACAAAAG	0.333000													3	30					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41559142	41559142	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:41559142T>A	ENST00000396942.1	-	22	2472		c.e22-2		ANK1_ENST00000347528.4_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000352337.4_Splice_Site			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTGACTAACTAAAACGAGAA	0.468000											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	84					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42618092	42618092	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:42618092G>C	ENST00000381668.5	-	5	598	c.367C>G	c.(367-369)Cga>Gga	p.R123G	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	123					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCTTTATGTCGTTTCTAAAGT	0.299000													13	38					0	0	1	0	0
ZNF789	285989	broad.mit.edu	37	7	99084134	99084134	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:99084134C>A	ENST00000331410.5	+	5	571	c.301C>A	c.(301-303)Cca>Aca	p.P101T	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAGCTAACTCCAAAACAGAA	0.343000													12	33					1.52009e-12	1.82252e-12	1	1	0
SERINC5	256987	broad.mit.edu	37	5	79446773	79446773	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:79446773T>A	ENST00000507668.2	-	9	1137		c.e9-2		SERINC5_ENST00000509193.1_Splice_Site|SERINC5_ENST00000512721.1_Splice_Site|SERINC5_ENST00000512972.2_Splice_Site	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5						phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GATGTCAAACTAAGAAACAGA	0.483000													6	218					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171256785	171256785	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:171256785G>A	ENST00000334231.6	+	17	1906	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.D627N|MYO3B_ENST00000409044.3_Missense_Mutation_p.D627N			Q8WXR4	MYO3B_HUMAN	myosin IIIB	627	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACATCAGACTGATAAAAGTGA	0.418000													9	408					0	0	1	0	0
ABHD4	63874	broad.mit.edu	37	14	23072464	23072464	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:23072464C>T	ENST00000428304.2	+	3	352	c.282C>T	c.(280-282)cgC>cgT	p.R94R	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	94					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TGAGTGCCCGCCGCACACTGC	0.612000													3	126					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42608900	42608900	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr22:42608900C>A	ENST00000359486.3	-	1	2548	c.2412G>T	c.(2410-2412)ctG>ctT	p.L804L	TCF20_ENST00000335626.4_Silent_p.L804L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGCTTTTGTTCAGAAGGCCCC	0.478000													4	47					0.014758	0.0152922	1	1	0
LARS	51520	broad.mit.edu	37	5	145551555	145551555	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:145551555T>A	ENST00000394434.2	-	4	380		c.e4-2		LARS_ENST00000511505.1_Splice_Site|LARS_ENST00000274562.9_Intron|LARS_ENST00000510191.1_Splice_Site|LARS_ENST00000545646.1_Splice_Site	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase						leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TACAGCAAACTACAGaaataa	0.333000													5	66					0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182617279	182617279	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:182617279G>A	ENST00000483095.2	-	6	610	c.353C>T	c.(352-354)cCa>cTa	p.P118L	RGS8_ENST00000258302.4_Missense_Mutation_p.P136L|RGS8_ENST00000367557.4_Missense_Mutation_p.P118L|RGS8_ENST00000367556.1_Missense_Mutation_p.P118L			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	118	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CACCTCCCGTGGAGCCTGCAC	0.532000													32	165					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150404112	150404112	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:150404112G>A	ENST00000295910.6	-	4	635	c.583C>T	c.(583-585)Cct>Tct	p.P195S	FAM194A_ENST00000491361.1_Missense_Mutation_p.P49S	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	195										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGACATTCAGGTTCAGCTTTC	0.388000													25	121					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45537772	45537772	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:45537772A>G	ENST00000415258.1	+	13	1670	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	LARS2_ENST00000414984.1_Missense_Mutation_p.K467R|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.K510R			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	510					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CTTAGGTGCAAGGGAGCAGCC	0.363000													72	97					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90759177	90759177	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:90759177A>T	ENST00000354366.3	-	9	1938	c.1706T>A	c.(1705-1707)aTa>aAa	p.I569K	NRDE2_ENST00000357904.3_Missense_Mutation_p.I338K	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CTTATCTTTTATTTCCTGGTC	0.512000													5	245					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57351601	57351601	+	Splice_Site	SNP	A	A	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:57351601A>C	ENST00000361249.3	+	7	953	c.855_splice	c.e7-1	p.K286_splice		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	286	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCTGGCAGAAATTCATTTTC	0.393000													12	69					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78477314	78477314	+	Missense_Mutation	SNP	C	C	A	rs77132068	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:78477314C>A	ENST00000377211.4	-	4	1200	c.1048G>T	c.(1048-1050)Gtt>Ttt	p.V350F	EDNRB_ENST00000446573.1_Missense_Mutation_p.V260F|EDNRB_ENST00000334286.5_Missense_Mutation_p.V260F	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	260					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GTCTTCTGAACGGGATGAAGC	0.408000													52	121					2.3318e-11	2.76195e-11	1	1	0
OS9	10956	broad.mit.edu	37	12	58089814	58089814	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:58089814C>T	ENST00000315970.7	+	4	514	c.473C>T	c.(472-474)aCa>aTa	p.T158I	OS9_ENST00000552285.1_Missense_Mutation_p.T158I|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000435406.2_Intron|OS9_ENST00000413095.2_Intron|OS9_ENST00000551035.1_Missense_Mutation_p.T158I|OS9_ENST00000389142.5_Missense_Mutation_p.T158I|OS9_ENST00000389146.6_Missense_Mutation_p.T158I|OS9_ENST00000257966.8_Missense_Mutation_p.T158I|OS9_ENST00000439210.2_Missense_Mutation_p.T99I	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	158	PRKCSH.				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GATGATGAAACAGCCAAGGTG	0.507000													14	458					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44426347	44426347	+	Translation_Start_Site	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:44426347C>A	ENST00000269973.5	-	0	1081				ZNF45_ENST00000589703.1_De_novo_Start_OutOfFrame|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45						multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTTTGTCCTCCTCCTTCTGGA	0.408000													13	137					0.0202918	0.0209316	1	1	0
ZNF783	100289678	broad.mit.edu	37	7	148963912	148963912	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:148963912G>A	ENST00000434415.1	+	3	586	c.423G>A	c.(421-423)gtG>gtA	p.V141V		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	141					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGTTCCAGGTGCCCGTGACCT	0.622000													62	645					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388271	56388271	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:56388271C>T	ENST00000423270.1	-	9	1654	c.1655G>A	c.(1654-1656)tGc>tAc	p.C552Y	RFX7_ENST00000559447.2_Missense_Mutation_p.C455Y|RFX7_ENST00000317318.6_Missense_Mutation_p.C552Y|RFX7_ENST00000422057.1_Missense_Mutation_p.C455Y	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	455					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTTCTCTTGGCACTGTACAGG	0.512000													6	54					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96387718	96387718	+	Missense_Mutation	SNP	A	A	T	rs150136984	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:96387718A>T	ENST00000261208.3	-	6	838	c.470T>A	c.(469-471)aTa>aAa	p.I157K	HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.I157K	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	157					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TTTCTCTTTTATGATGCTATC	0.338000													8	196					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41648022	41648022	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr21:41648022A>T	ENST00000400454.1	-	11	2834		c.e11+1			NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule						cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCTCTCTTACTTTTAACCG	0.448000													6	146					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48479596	48479596	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:48479596T>G	ENST00000417961.1	+	9	1102	c.892T>G	c.(892-894)Tct>Gct	p.S298A	SLC9A8_ENST00000539601.1_Missense_Mutation_p.S63A|SLC9A8_ENST00000361573.2_Missense_Mutation_p.S282A|SLC9A8_ENST00000541138.1_Intron	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	282						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGGCTTAATTTCTGCATTAAT	0.418000													32	58					0	0	1	0	0
SH2D6	284948	broad.mit.edu	37	2	85662808	85662808	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:85662808G>A	ENST00000389938.2	+	19	1490	c.176G>A	c.(175-177)cGc>cAc	p.R59H	SH2D6_ENST00000481426.2_3'UTR|SH2D6_ENST00000340326.2_Missense_Mutation_p.R91H			Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	91										central_nervous_system(1)|lung(2)	3						TATACCGTGCGCCCCAGCTCA	0.652000													3	17					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408735	40408735	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:40408735G>A	ENST00000221347.6	-	8	4111	c.4104C>T	c.(4102-4104)taC>taT	p.Y1368Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1368	VWFD 3.					extracellular region	protein binding			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)			ACACAAGGTCGTAGGCCACAC	0.587000													17	198					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2203642	2203642	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:2203642G>T	ENST00000544865.1	-	2	822	c.312C>A	c.(310-312)atC>atA	p.I104I	SMG6_ENST00000263073.5_Silent_p.I135I			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	135					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTGTTCTTTTGATAATTTTTA	0.468000													4	156					0.000602214	0.000644426	1	1	0
TIPIN	54962	broad.mit.edu	37	15	66641437	66641437	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:66641437C>G	ENST00000261881.4	-	6	521	c.436G>C	c.(436-438)Gat>Cat	p.D146H	TIPIN_ENST00000367709.4_Missense_Mutation_p.D45H	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	146					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						ATAGGGAGATCAAGTCGAATT	0.294000													3	14					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGTTTTTTTAGTTGCAACTA	0.333000													3	32					0	0	1	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031797	132031797	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:132031797C>A	ENST00000314099.8	-	1	409	c.361G>T	c.(361-363)Gca>Tca	p.A121S	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	121						integral to membrane				endometrium(1)|lung(1)	2						TCTTCTGCTGCCGCCTTCTCA	0.398000													4	147					0.00198382	0.00209352	1	1	0
SLC13A1	6561	broad.mit.edu	37	7	122769435	122769435	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:122769435A>T	ENST00000194130.2	-	9	1071		c.e9+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1							integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	tgtttgtCTTACCTTATTGGC	0.408000													6	183					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75478338	75478338	+	RNA	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:75478338T>C	ENST00000459803.1	-	0	327					NR_024241.1																						TCAGGGTCTCTGCCAGTGCCT	0.557000													4	67					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12546651	12546651	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:12546651A>T	ENST00000284995.6	+	6	1218		c.e6-1		TSEN2_ENST00000454502.2_Splice_Site|TSEN2_ENST00000402228.3_Splice_Site|TSEN2_ENST00000314571.7_Intron|TSEN2_ENST00000444864.1_Intron|TSEN2_ENST00000415684.1_Intron|TSEN2_ENST00000383797.5_Splice_Site	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit						mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CTTTCTCTTTAGTTGGTGCAA	0.299000													4	26					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	2116073	2116073	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:2116073G>T	ENST00000380815.4	-	4	546	c.277C>A	c.(277-279)Ctt>Att	p.L93I	GMDS_ENST00000530927.1_Missense_Mutation_p.L63I	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	93					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ATCTTCACAAGGCAGGTACTG	0.413000													10	334					0.00136819	0.00145729	1	1	0
MPRIP	23164	broad.mit.edu	37	17	17064559	17064559	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:17064559G>C	ENST00000395811.5	+	15	2141	c.2052G>C	c.(2050-2052)gaG>gaC	p.E684D	MPRIP_ENST00000395804.3_Missense_Mutation_p.E684D|MPRIP_ENST00000444976.1_Missense_Mutation_p.E646D|MPRIP_ENST00000341712.4_Missense_Mutation_p.E684D	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	684	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AACAGCTGGAGCAGAGCCAGA	0.567000													15	9					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48151675	48151675	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:48151675A>T	ENST00000381501.3	-	11	1062	c.905T>A	c.(904-906)aTa>aAa	p.I302K	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	302	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGTTTCCTTTATATGATAATG	0.333000													4	80					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27427422	27427422	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:27427422C>T	ENST00000295736.5	-	23	3496	c.3426G>A	c.(3424-3426)aaG>aaA	p.K1142K	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Silent_p.K1138K|SLC4A7_ENST00000388777.4_Silent_p.K692K|SLC4A7_ENST00000455077.1_Silent_p.K1023K|SLC4A7_ENST00000446700.1_Silent_p.K1134K|SLC4A7_ENST00000428386.1_Silent_p.K1018K|SLC4A7_ENST00000440156.1_Silent_p.K1138K|SLC4A7_ENST00000437179.1_Silent_p.K1023K|SLC4A7_ENST00000454389.1_Silent_p.K1151K|SLC4A7_ENST00000435667.2_Silent_p.K1027K	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1142						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						ctttctttttcttactttctG	0.323000													5	84					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99991267	99991267	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:99991267A>T	ENST00000314594.5	+	7	2130		c.e7-1		R3HCC1L_ENST00000298999.3_Splice_Site|R3HCC1L_ENST00000370586.2_Splice_Site|R3HCC1L_ENST00000370584.3_Splice_Site	NM_001256619.1	NP_001243548.1			R3H domain and coiled-coil containing 1-like																		CTTCCTTTCTAGTTATCAGGG	0.378000													6	197					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374870	23374870	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:23374870T>A	ENST00000359890.3	-	6	597		c.e6-2		RBM23_ENST00000346528.5_Intron|RBM23_ENST00000542016.2_Splice_Site|RBM23_ENST00000555209.1_Intron|RBM23_ENST00000399922.2_Splice_Site	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23						mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TACCTATAACTAAAGAATAGA	0.398000													4	67					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44270864	44270864	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:44270864G>A	ENST00000244571.4	-	16	2196	c.2194C>T	c.(2194-2196)Cat>Tat	p.H732Y	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	732					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TCCAATGCATGGGCCACGGGC	0.622000													4	60					0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100828168	100828168	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:100828168G>T	ENST00000355338.2	-	3	808	c.190C>A	c.(190-192)Cca>Aca	p.P64T	WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.P64T|WARS_ENST00000358655.4_Missense_Mutation_p.P23T|WARS_ENST00000556645.1_Missense_Mutation_p.P23T|WARS_ENST00000392882.2_Missense_Mutation_p.P64T|WARS_ENST00000344102.5_Missense_Mutation_p.P23T	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	64	WHEP-TRS.				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GGGTTCCCTGGAGGACAGTCA	0.493000													13	341					1.5842e-08	1.81391e-08	1	1	0
UTP11L	51118	broad.mit.edu	37	1	38484984	38484984	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:38484984T>A	ENST00000373014.4	+	6	557	c.496T>A	c.(496-498)Ttt>Att	p.F166I	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	166					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGACAGAGTCTTTAATAGGCC	0.423000													6	83					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201054102	201054102	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:201054102C>T	ENST00000362061.3	-	9	1434	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G403D	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	403					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTTGTTCAAGCCTGCAATTTC	0.532000													4	166					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1718106	1718106	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:1718106C>A	ENST00000397412.3	+	18	3345	c.3246C>A	c.(3244-3246)ggC>ggA	p.G1082G	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Silent_p.G1082G|CRAMP1L_ENST00000436138.3_Silent_p.G1079G|CRAMP1L_ENST00000262317.4_Silent_p.G460G			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1082	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCTGCCCGGCCCACCTGAGG	0.617000													18	312					0.00152264	0.00161428	1	1	0
KRT74	121391	broad.mit.edu	37	12	52966408	52966408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:52966408C>T	ENST00000549343.1	-	2	553	c.515G>A	c.(514-516)tGg>tAg	p.W172*	KRT74_ENST00000305620.2_Nonsense_Mutation_p.W172*			Q7RTS7	K2C74_HUMAN	keratin 74	172	Coil 1A.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CAGCAGCTCCCACTTGGTTTC	0.557000													3	66					0	0	1	0	0
FNTB	2342	broad.mit.edu	37	14	65482384	65482384	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:65482384G>A	ENST00000246166.2	+	4	558	c.324G>A	c.(322-324)ctG>ctA	p.L108L	MAX_ENST00000341653.2_Intron|FNTB_ENST00000555742.1_3'UTR|CHURC1-FNTB_ENST00000542227.1_Silent_p.L62L|CHURC1-FNTB_ENST00000447296.2_Silent_p.L142L|CHURC1-FNTB_ENST00000448390.2_5'UTR	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATTGGATCCTGCACAGCTTGG	0.493000													5	208					0	0	1	0	0
MSANTD4	84437	broad.mit.edu	37	11	105880839	105880839	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:105880839T>A	ENST00000301919.4	-	3	1878		c.e3-2			NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							nucleus											AATTTCAAACTAAGAGCAAAG	0.368000													7	123					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109023492	109023492	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:109023492G>A	ENST00000478945.1	-	7	930	c.684C>T	c.(682-684)ggC>ggT	p.G228G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	228						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGAGAAGTCTGCCATGGACCA	0.502000													4	83					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38955746	38955746	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:38955746C>T	ENST00000306658.7	-	1	465	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	134	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TAGTCATGATCAAGTCCACGG	0.388000													35	223					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61528151	61528151	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:61528151T>C	ENST00000266070.4	-	7	2111	c.1786A>G	c.(1786-1788)Aag>Gag	p.K596E	DIDO1_ENST00000395343.1_Missense_Mutation_p.K596E|DIDO1_ENST00000395335.2_Missense_Mutation_p.K596E|DIDO1_ENST00000395340.1_Missense_Mutation_p.K596E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	596					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CATGGCCTCTTGGGGATGGTG	0.587000													7	419					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840160	128840160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:128840160G>A	ENST00000310343.9	-	22	4905	c.4906C>T	c.(4906-4908)Cag>Tag	p.Q1636*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1287*|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1287*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1636	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCTGAAGCTGAGTGACATGA	0.502000													9	36					0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960888	29960888	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:29960888T>A	ENST00000253381.2	+	2	320	c.287T>A	c.(286-288)gTa>gAa	p.V96E		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	96					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TACTTTGAAGTAAGCAGCAAG	0.458000													6	360					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46058627	46058627	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:46058627C>A	ENST00000536708.2	+	13	1566	c.1457C>A	c.(1456-1458)gCa>gAa	p.A486E	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.A461E|CDK5RAP3_ENST00000578663.1_3'UTR|RP11-6N17.10_ENST00000578239.1_RNA	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	461					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CAGCAGGAGGCACTTGAGGAG	0.567000													7	154					0.27861	0.27861	1	1	0
RNF139	11236	broad.mit.edu	37	8	125498070	125498070	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:125498070A>T	ENST00000303545.3	+	2	553		c.e2-1			NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139						negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTTTCTTTTAGGTGTATTTG	0.328000													4	106					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1791575	1791575	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:1791575C>A	ENST00000518288.1	+	3	245	c.82C>A	c.(82-84)Cga>Aga	p.R28R	ARHGEF10_ENST00000262112.6_Silent_p.R28R|ARHGEF10_ENST00000398564.1_Silent_p.R28R|ARHGEF10_ENST00000349830.3_Silent_p.R4R|ARHGEF10_ENST00000520359.1_Silent_p.R4R|ARHGEF10_ENST00000398560.1_Silent_p.R28R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	28					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CATGGACCAGCGAGAGCCCCT	0.582000													5	74					3.09899e-07	3.51321e-07	1	1	0
ATAD3B	83858	broad.mit.edu	37	1	1425751	1425751	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:1425751G>A	ENST00000308647.7	+	14	1568	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	484							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGAGCGCCTGGTGAGACTGC	0.592000													4	10					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40476084	40476084	+	Splice_Site	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:40476084G>C	ENST00000287598.6	+	6	946	c.751_splice	c.e6+1	p.A251_splice	BUB1B_ENST00000412359.3_Splice_Site_p.A265_splice	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	251					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGCTCTCAAGGGTAAGTTTGT	0.388000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				11	48					0	0	1	0	0
RPL27A	6157	broad.mit.edu	37	11	8707275	8707275	+	Silent	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:8707275C>A	ENST00000314138.6	+	5	772	c.369C>A	c.(367-369)atC>atA	p.I123I	RPL27A_ENST00000532359.1_Silent_p.I88I|RPL27A_ENST00000524496.1_Silent_p.I66I|RPL27A_ENST00000526562.1_Silent_p.I66I|RPL27A_ENST00000530913.1_Silent_p.I66I|RPL27A_ENST00000530022.1_Silent_p.I66I	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	123					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCTGTCATCGTGAAGGCCA	0.473000													10	180					0.000151284	0.000163416	1	1	0
PDIA6	10130	broad.mit.edu	37	2	10927548	10927548	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:10927548G>T	ENST00000404371.2	-	13	1509	c.1172C>A	c.(1171-1173)gCt>gAt	p.A391D	PDIA6_ENST00000381611.4_Missense_Mutation_p.A344D|PDIA6_ENST00000540494.1_Missense_Mutation_p.A336D|PDIA6_ENST00000272227.3_Missense_Mutation_p.A339D|PDIA6_ENST00000404824.2_Missense_Mutation_p.A387D			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	339					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTGGGCTCCAGCTTCTGTCCA	0.468000													23	67					1.1904e-30	1.47353e-30	1	1	0
ZNF474	133923	broad.mit.edu	37	5	121488728	121488728	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:121488728T>G	ENST00000296600.4	+	2	1426	c.1043T>G	c.(1042-1044)aTt>aGt	p.I348S	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	348						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GATAAGGTAATTCATGCCACA	0.473000													51	105					0	0	1	0	0
C18orf25	147339	broad.mit.edu	37	18	43796531	43796531	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr18:43796531A>G	ENST00000282059.6	+	2	1059	c.685A>G	c.(685-687)Agc>Ggc	p.S229G	C18orf25_ENST00000321319.6_Missense_Mutation_p.S229G	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	229										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GGTTTCAGGGAGCAGCAAGAC	0.433000													3	89					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140275475	140275475	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:140275475C>T	ENST00000458420.3	+	11	1985	c.1795C>T	c.(1795-1797)Cgg>Tgg	p.R599W		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	599					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.R599W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCGGGTGTGCGGCGCCTCAA	0.577000										HNSCC(16;0.037)			4	166					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768699	57768699	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:57768699G>A	ENST00000371030.2	+	1	2625	c.2625G>A	c.(2623-2625)caG>caA	p.Q875Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	875						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGCCAGGCAGGTGGGCGAGC	0.652000													6	18					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19127229	19127229	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr22:19127229T>C	ENST00000252137.6	-	5	627	c.584A>G	c.(583-585)aAt>aGt	p.N195S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	195					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GAGTTCGAGATTATCTTTCTG	0.562000													9	117					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28164063	28164063	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:28164063C>T	ENST00000304658.5	-	8	1641	c.1141G>A	c.(1141-1143)Gtt>Att	p.V381I	XPO6_ENST00000565698.1_Missense_Mutation_p.V367I	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	381					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTTAGGTGAACACTCACAAAG	0.408000													4	176					0	0	1	0	0
NXN	64359	broad.mit.edu	37	17	725651	725651	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:725651C>T	ENST00000336868.3	-	4	750	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	NXN_ENST00000575801.1_Missense_Mutation_p.R112Q|NXN_ENST00000538650.1_5'UTR|NXN_ENST00000537628.2_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	220	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	p.R220Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTTGATCTTCCGGTAGGATTC	0.592000													6	520					0	0	1	0	0
STAG3L4	64940	broad.mit.edu	37	7	66774050	66774050	+	RNA	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:66774050G>T	ENST00000416602.2	+	0	491					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				ACTTCCCTATGGACAACCTCA	0.527000													7	338					1.76689e-08	2.01303e-08	1	1	0
SELE	6401	broad.mit.edu	37	1	169701918	169701918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:169701918G>A	ENST00000333360.7	-	3	398	c.259C>T	c.(259-261)Cag>Tag	p.Q87*	C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367774.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367780.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367777.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367776.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367775.1_Nonsense_Mutation_p.Q87*|SELE_ENST00000367779.4_Nonsense_Mutation_p.Q87*|SELE_ENST00000367781.4_Nonsense_Mutation_p.Q87*	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	87	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AGAGGTTTCTGGGTTCCTACC	0.433000													3	38					0	0	1	0	0
CDC16	8881	broad.mit.edu	37	13	115004475	115004475	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:115004475C>T	ENST00000360383.3	+	4	410	c.212C>T	c.(211-213)gCa>gTa	p.A71V	CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.A70V|CDC16_ENST00000356221.3_Missense_Mutation_p.A71V	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	71					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|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|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TTGTATGAAGCATGTCGTTAC	0.299000													3	23					0	0	1	0	0
AAR2	25980	broad.mit.edu	37	20	34832710	34832710	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:34832710G>T	ENST00000373932.3	+	3	1195	c.849G>T	c.(847-849)cgG>cgT	p.R283R	AAR2_ENST00000320849.4_Silent_p.R283R|AAR2_ENST00000397286.3_Silent_p.R283R	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		TCCTGTGCCGGTCAGAAGCAG	0.527000													13	237					2.35188e-11	2.76195e-11	1	1	0
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:133948805A>T	ENST00000414371.2	+	4	396	c.223A>T	c.(223-225)Aat>Tat	p.N75Y	FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343000													6	82					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70446071	70446071	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:70446071C>A	ENST00000310961.5	+	10	1040	c.622C>A	c.(622-624)Ctg>Atg	p.L208M	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.L203M			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	203						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCTGAAGTTCTGGATCAAAT	0.333000													4	174					1.12685e-05	1.2288e-05	1	1	0
AUP1	550	broad.mit.edu	37	2	74756309	74756309	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:74756309C>T	ENST00000377526.3	-	3	598	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	135						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						AAAGGTGTCACATGGTTGGAA	0.607000													4	86					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54912520	54912520	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:54912520G>A	ENST00000284061.3	+	2	544	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	DGKE_ENST00000572810.1_Missense_Mutation_p.A122T|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	122					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GGTCCTGGACGCCATGCCCCA	0.592000													6	233					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65342652	65342652	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:65342652T>C	ENST00000402939.2	-	23	3789	c.3790A>G	c.(3790-3792)Agg>Ggg	p.R1264G	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1293					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTCGGATCCCTTGCGTGTGCC	0.592000													4	263					0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49701422	49701422	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:49701422A>T	ENST00000433368.2	-	5	555	c.486T>A	c.(484-486)taT>taA	p.Y162*	CRISP3_ENST00000263045.4_Nonsense_Mutation_p.Y152*|CRISP3_ENST00000371159.4_Nonsense_Mutation_p.Y170*|CRISP3_ENST00000423399.2_Nonsense_Mutation_p.Y49*|CRISP3_ENST00000393666.1_Nonsense_Mutation_p.Y139*	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	139					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTACCTGTGTATAATGTCCAA	0.398000													8	675					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68837896	68837896	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:68837896A>T	ENST00000294309.3	+	9	930		c.e9-1		TPCN2_ENST00000442692.2_Splice_Site|TPCN2_ENST00000542467.1_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTTTCTTTTAGTGATGATTC	0.443000													5	104					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61566751	61566751	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:61566751C>T	ENST00000263102.6	-	6	1164	c.933G>A	c.(931-933)gaG>gaA	p.E311E		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	311						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TTCTCTCCATCTCCCTCTGCA	0.488000			T	RET	NSCLC								5	109					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17172077	17172077	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:17172077C>A	ENST00000265970.7	-	3	1294	c.1295G>T	c.(1294-1296)gGa>gTa	p.G432V	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.G52V|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	432					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAGCTGAAATCCTTCAATGTC	0.403000													13	168					3.41278e-10	3.98738e-10	1	1	0
SH2D2A	9047	broad.mit.edu	37	1	156779265	156779265	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:156779265C>G	ENST00000392306.2	-	7	901	c.762G>C	c.(760-762)agG>agC	p.R254S	SH2D2A_ENST00000368199.3_Missense_Mutation_p.R244S|SH2D2A_ENST00000368198.3_Missense_Mutation_p.R226S	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	244	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCTTGGGCCTGAGCAGCT	0.657000													10	286					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13735817	13735817	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:13735817G>T	ENST00000342409.2	-	14	1626	c.1246C>A	c.(1246-1248)Cag>Aag	p.Q416K	FRMD4A_ENST00000357447.2_Intron|FRMD4A_ENST00000358621.4_Intron|FRMD4A_ENST00000378503.1_Intron|FRMD4A_ENST00000492155.1_5'UTR			Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	897						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTCCCCAGCTGCAGCTCTCCC	0.612000													19	75					1.50039e-11	1.78953e-11	1	1	0
BEND6	221336	broad.mit.edu	37	6	56882003	56882003	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:56882003A>T	ENST00000370750.2	+	6	1169		c.e6-1		BEND6_ENST00000370746.3_Splice_Site|BEND6_ENST00000484701.1_Splice_Site|BEND6_ENST00000545789.1_Splice_Site			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TTATCTTTTTAGTTCCAGATT	0.313000													4	57					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104039	5104039	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:5104039A>G	ENST00000396912.1	+	5	1471	c.952A>G	c.(952-954)Aaa>Gaa	p.K318E	RBAK_ENST00000353796.3_Missense_Mutation_p.K318E|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	318					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAAGCCCTATAAATGTAATGA	0.423000													7	167					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861593	55861593	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:55861593G>A	ENST00000302124.2	+	1	841	c.810G>A	c.(808-810)gcG>gcA	p.A270A	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453000													4	119					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877876	130877876	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:130877876G>C	ENST00000357462.5	-	1	306	c.213C>G	c.(211-213)tgC>tgG	p.C71W	POTEF_ENST00000360967.5_Missense_Mutation_p.C71W|POTEF_ENST00000361163.4_Missense_Mutation_p.C71W|POTEF_ENST00000409914.2_Missense_Mutation_p.C71W			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	71						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCCCCCTGCAGCAGGGGAAGC	0.592000													4	88					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43171362	43171362	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr21:43171362G>T	ENST00000352483.2	-	3	582	c.518C>A	c.(517-519)tCg>tAg	p.S173*	RIPK4_ENST00000332512.3_Nonsense_Mutation_p.S173*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.S110*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.S110*			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	173						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGGTCATGCGAGTGGGACAG	0.537000													7	368					7.48243e-07	8.27766e-07	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618806	77618806	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:77618806A>G	ENST00000521891.2	+	2	2931	c.2483A>G	c.(2482-2484)aAc>aGc	p.N828S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.N828S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N828S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N828S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	828						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAGCCCAGAACATAGGCCTG	0.542000										HNSCC(33;0.089)			14	24					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71883318	71883318	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:71883318G>A	ENST00000258104.3	+	42	4813	c.4536G>A	c.(4534-4536)gtG>gtA	p.V1512V	DYSF_ENST00000409744.1_Silent_p.V1520V|DYSF_ENST00000429174.2_Silent_p.V1533V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Silent_p.V1544V|DYSF_ENST00000413539.2_Silent_p.V1543V|DYSF_ENST00000410020.3_Silent_p.V1551V|DYSF_ENST00000409762.1_Silent_p.V1529V|DYSF_ENST00000409582.3_Silent_p.V1550V|DYSF_ENST00000410041.1_Silent_p.V1530V|DYSF_ENST00000409366.1_Silent_p.V1534V|DYSF_ENST00000394120.2_Silent_p.V1513V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1512						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGAGAATGTGGAGGCCTTTG	0.483000													27	400					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	149	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662000													3	20					0.00024832	0.000266973	1	1	0
RBBP9	10741	broad.mit.edu	37	20	18477864	18477864	+	Translation_Start_Site	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:18477864G>T	ENST00000337227.4	-	0	23					NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9							cytoplasm|nucleus	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						GCTGAGCCCAGCCTGCTCCCG	0.687000													5	7					0.014758	0.0152922	1	1	0
NSD1	64324	broad.mit.edu	37	5	176562268	176562268	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:176562268G>T	ENST00000439151.2	+	2	209	c.164G>T	c.(163-165)gGa>gTa	p.G55V	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.G55V|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	55					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTGTCAGTGGAACATCCCAA	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			4	166					0.150653	0.153332	1	1	0
GFM1	85476	broad.mit.edu	37	3	158378661	158378661	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:158378661A>T	ENST00000486715.1	+	10	1578		c.e10-1		GFM1_ENST00000478576.1_Splice_Site|GFM1_ENST00000490261.1_Splice_Site|GFM1_ENST00000264263.5_Splice_Site	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1						mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGTTTTTTTAGGATGTTGAG	0.348000													5	302					0	0	1	0	0
HCCAT5	283902	broad.mit.edu	37	16	73127098	73127098	+	RNA	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:73127098C>A	ENST00000569990.2	+	0	756					NR_027756.1																						TGGACGACCACGCGCATGCAG	0.542000													4	75					0.014758	0.0152922	1	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113649559	113649559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:113649559A>T	ENST00000358160.4	+	11	1582		c.e11-1		GRAMD1C_ENST00000472026.1_Splice_Site|GRAMD1C_ENST00000452134.2_Splice_Site|GRAMD1C_ENST00000440446.2_Splice_Site|GRAMD1C_ENST00000479212.1_Splice_Site	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C							integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGTTGTTGTTAGATGTAGTAT	0.343000													7	119					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124412743	124412743	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:124412743C>T	ENST00000306842.2	-	1	832	c.808G>A	c.(808-810)Ggg>Agg	p.G270R		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GACACTTTCCCTTGCTCGAGG	0.438000													4	95					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94526868	94526868	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:94526868A>T	ENST00000330836.5	-	5	1620	c.1489T>A	c.(1489-1491)Tac>Aac	p.Y497N	DDX24_ENST00000555054.1_Missense_Mutation_p.Y454N|DDX24_ENST00000544005.1_Missense_Mutation_p.Y247N	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	497	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTGGGTTGTATTGGGAGTCA	0.498000													6	431					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60448849	60448849	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:60448849C>T	ENST00000360469.5	+	7	1031	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	CDH4_ENST00000543233.1_Missense_Mutation_p.R241W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	315	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding	p.R315W(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGGATGGTGCGGTACCGGAT	0.612000													6	113					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	14005509	14005509	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:14005509A>T	ENST00000261643.3	+	4	651	c.574A>T	c.(574-576)Act>Tct	p.T192S	COX10_ENST00000536205.1_Intron|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	192					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTTCCTGCTTACTTCTGTTGG	0.473000													7	521					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602905	138602905	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:138602905A>G	ENST00000440172.1	-	2	1515	c.1467T>C	c.(1465-1467)ccT>ccC	p.P489P	KIAA1549_ENST00000242365.4_Silent_p.P439P|KIAA1549_ENST00000422774.1_Silent_p.P489P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	489						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGGGACGATAGGTCTGGAGG	0.458000			O	BRAF	pilocytic astrocytoma								45	78					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16539554	16539554	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:16539554T>A	ENST00000602009.1	-	2	950	c.55A>T	c.(55-57)Att>Ttt	p.I19F	EPS15L1_ENST00000597937.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000248070.6_Missense_Mutation_p.I173F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I173F			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	173	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCCTTGTCAATGTCACTGAGG	0.577000													17	59					0	0	1	0	0
XKR8	55113	broad.mit.edu	37	1	28293158	28293158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:28293158G>A	ENST00000373884.5	+	3	1243	c.635G>A	c.(634-636)tGg>tAg	p.W212*	XKR8_ENST00000481387.1_3'UTR	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	212						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CTGCTGCTGTGGCCCCGAGTC	0.662000													5	89					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413000													4	152					0	0	1	0	0
DAPL1	92196	broad.mit.edu	37	2	159672329	159672329	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:159672329G>T	ENST00000309950.3	+	4	376	c.320G>T	c.(319-321)tGt>tTt	p.C107F	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	107					apoptosis|cell differentiation					prostate(1)	1						CCTCGAAAATGTTAAGCCTGG	0.478000													7	110					2.10051e-16	2.54506e-16	1	1	0
AGO1	26523	broad.mit.edu	37	1	36367579	36367579	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:36367579T>C	ENST00000373204.4	+	10	1384	c.1171T>C	c.(1171-1173)Tac>Cac	p.Y391H	AGO1_ENST00000373206.1_Missense_Mutation_p.Y316H	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CTTAGATCCCTACATCCAGGA	0.537000													3	150					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163228383	163228383	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:163228383C>A	ENST00000332142.5	-	16	3646	c.3547G>T	c.(3547-3549)Ggt>Tgt	p.G1183C		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1183					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTATGAAGACCCACGATTCCT	0.408000													7	230					5.18039e-06	5.67612e-06	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43858392	43858392	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:43858392A>T	ENST00000389420.3	-	10	1509		c.e10+1		ADAMTS20_ENST00000553158.1_Splice_Site	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20							proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCTTTTCTTACTATATGGGG	0.333000													4	99					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800205	27800205	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:27800205C>T	ENST00000408964.2	+	1	817	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	256										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TATGAAGCCACTGCAGCAAAC	0.448000													3	141					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1955186	1955186	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:1955186G>A	ENST00000382895.3	+	14	2704	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.R106H|WHSC1_ENST00000382891.5_Missense_Mutation_p.R758H|WHSC1_ENST00000382892.2_Missense_Mutation_p.R758H|WHSC1_ENST00000508803.1_Missense_Mutation_p.R758H	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	758					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CGAGGTTTCCGCTGCCCCCTC	0.517000			T	IGH@	MM								9	445					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43777389	43777389	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:43777389C>A	ENST00000372476.3	+	10	1460	c.1381C>A	c.(1381-1383)Cgc>Agc	p.R461S	TIE1_ENST00000433781.2_Missense_Mutation_p.R106S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	461	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAAGCAGAGCCGCCAGCTTGT	0.647000													6	93					0.0293803	0.0300362	1	1	0
SLIT1	6585	broad.mit.edu	37	10	98817000	98817000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:98817000C>T	ENST00000266058.4	-	12	1369	c.1124G>A	c.(1123-1125)gGt>gAt	p.G375D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G375D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	375					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAAACACACCACGGGGGAG	0.567000													14	36					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823530	74823530	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:74823530T>G	ENST00000256362.4	+	2	285	c.44T>G	c.(43-45)cTg>cGg	p.L15R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	15					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGCAGGAGCTGCAGGAAGCA	0.587000													8	102					0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101009797	101009797	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:101009797G>C	ENST00000264249.3	-	7	1366	c.981C>G	c.(979-981)atC>atG	p.I327M	CHST10_ENST00000542617.1_Missense_Mutation_p.I375M|CHST10_ENST00000409701.1_Missense_Mutation_p.I327M	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	327					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTCGTTTGCTGATGCCCAGGA	0.488000													7	205					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58207197	58207197	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:58207197C>A	ENST00000537081.1	-	3	129	c.130G>T	c.(130-132)Gtg>Ttg	p.V44L	AVIL_ENST00000257861.3_Missense_Mutation_p.V51L			O75366	AVIL_HUMAN	advillin	51	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTGGCCACTCTCCGGGTC	0.577000													54	98					2.40885e-21	2.94988e-21	1	1	0
FAM9B	171483	broad.mit.edu	37	X	9000465	9000465	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:9000465G>A	ENST00000362066.3	-	2	389	c.201C>T	c.(199-201)aaC>aaT	p.N67N	FAM9B_ENST00000327220.5_Silent_p.N22N|FAM9B_ENST00000428477.1_Silent_p.N22N			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	22						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CTGTAAAACGGTTTCTTTCCT	0.398000													5	185					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136599018	136599018	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:136599018G>A	ENST00000371872.4	-	2	535	c.278C>T	c.(277-279)gCg>gTg	p.A93V	SARDH_ENST00000439388.1_Missense_Mutation_p.A93V|SARDH_ENST00000422262.2_Intron|SARDH_ENST00000298628.5_Missense_Mutation_p.A93V|SARDH_ENST00000371867.1_Missense_Mutation_p.A4V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	93					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGCAGCACCGCCCCACTCAT	0.692000													4	44					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245022119	245022119	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:245022119T>C	ENST00000444376.2	-	6	1319	c.1085A>G	c.(1084-1086)tAt>tGt	p.Y362C	HNRNPU_ENST00000283179.9_Missense_Mutation_p.Y381C	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	381	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTTAGAGAATACCCATAAGA	0.289000													6	15					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213178426	213178426	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:213178426A>G	ENST00000366962.3	-	5	1237	c.1083T>C	c.(1081-1083)taT>taC	p.Y361Y	ANGEL2_ENST00000360506.2_Silent_p.Y192Y|ANGEL2_ENST00000544555.1_Silent_p.Y192Y|ANGEL2_ENST00000535388.1_Silent_p.Y192Y|ANGEL2_ENST00000540642.1_Silent_p.Y235Y	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	361										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTATGAAACTATATAGTGGAG	0.408000													87	61					0	0	1	0	0
GRSF1	2926	broad.mit.edu	37	4	71693661	71693661	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:71693661T>G	ENST00000254799.6	-	6	1160	c.1043A>C	c.(1042-1044)aAg>aCg	p.K348T	GRSF1_ENST00000439371.1_Missense_Mutation_p.K186T|GRSF1_ENST00000545193.1_Missense_Mutation_p.K230T|GRSF1_ENST00000502323.1_Missense_Mutation_p.K186T|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	348					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGTTATATACTTAGCAGTAGG	0.373000													79	139					0	0	1	0	0
XRCC6BP1	91419	broad.mit.edu	37	12	58350468	58350468	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:58350468A>T	ENST00000300145.3	+	6	662		c.e6-1		XRCC6BP1_ENST00000546709.1_Splice_Site	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1						double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						CCTTCTTTTTAGACTTGTGTG	0.308000													6	176					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33408591	33408591	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:33408591C>A	ENST00000418600.2	+	11	1863	c.1762C>A	c.(1762-1764)Ctt>Att	p.L588I	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L529I|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L588I|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	588	Ras-GAP.				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						CGCAGACAGGCTTATCAGCGC	0.622000													10	160					2.17888e-05	2.36475e-05	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169472850	169472850	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:169472850G>T	ENST00000256935.8	+	39	3987	c.3907G>T	c.(3907-3909)Gag>Tag	p.E1303*	DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E795*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E364*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1303	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGTGCAAGGAGCTGGCGGA	0.572000													11	590					8.28177e-16	9.98171e-16	1	1	0
ACVR1B	91	broad.mit.edu	37	12	52385669	52385669	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:52385669G>A	ENST00000257963.4	+	8	1361	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L	ACVR1B_ENST00000542485.1_Silent_p.L376L|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000541224.1_Silent_p.L469L|ACVR1B_ENST00000426655.2_Silent_p.L428L	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	428	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AATATCAGCTGCCATATTACG	0.463000													7	356					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75404083	75404083	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:75404083C>T	ENST00000297784.5	+	15	1614	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	TMC1_ENST00000396237.3_Silent_p.V358V|TMC1_ENST00000340019.3_Silent_p.V358V	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	358					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGAAAACGTCCACTTGATCA	0.413000													6	250					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201335996	201335996	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:201335996C>A	ENST00000509001.1	-	7	459	c.173G>T	c.(172-174)gGc>gTc	p.G58V	TNNT2_ENST00000367317.4_Missense_Mutation_p.G58V|TNNT2_ENST00000236918.7_Missense_Mutation_p.G63V|TNNT2_ENST00000367322.1_Missense_Mutation_p.G58V|TNNT2_ENST00000421663.2_Missense_Mutation_p.G60V|TNNT2_ENST00000367318.5_Missense_Mutation_p.G58V|TNNT2_ENST00000367315.2_Missense_Mutation_p.G58V|TNNT2_ENST00000360372.4_Missense_Mutation_p.G53V|TNNT2_ENST00000367320.2_Missense_Mutation_p.G67V|TNNT2_ENST00000458432.2_Missense_Mutation_p.G70V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	68					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CTCCATTGGGCCATCTGGAGG	0.597000													47	87					5.13769e-22	6.32543e-22	1	1	0
GPR115	221393	broad.mit.edu	37	6	47682442	47682442	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:47682442G>A	ENST00000283303.2	+	6	1719	c.1461G>A	c.(1459-1461)ctG>ctA	p.L487L	GPR115_ENST00000371220.1_Silent_p.L544L|GPR115_ENST00000327753.3_Silent_p.L487L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	487					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACCTCTCTCTGTTTTTCTGGA	0.408000													17	2489					0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135197645	135197645	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:135197645G>A	ENST00000278060.5	+	4	1133	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.E350E|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	488					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CGCCCCTGGAGGATGCTGCCC	0.582000													3	92					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145579330	145579330	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:145579330C>T	ENST00000393045.2	+	5	757	c.667C>T	c.(667-669)Ccg>Tcg	p.P223S	PIAS3_ENST00000369299.3_Missense_Mutation_p.P214S|PIAS3_ENST00000369298.1_Missense_Mutation_p.P188S	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	223	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGCCCCCTGCCGGTAAATGC	0.463000													10	395					0	0	1	0	0
GOLM1	51280	broad.mit.edu	37	9	88642810	88642810	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:88642810T>A	ENST00000388712.3	-	10	1298		c.e10-2		GOLM1_ENST00000388711.3_Splice_Site	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1							Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CATTAAAAACTAAAAAGGAAA	0.323000													8	55					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31726989	31726989	+	Splice_Site	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:31726989C>T	ENST00000320027.5	-	5	873	c.529_splice	c.e5+1	p.V177_splice	HSPH1_ENST00000380405.4_Splice_Site_p.V177_splice|HSPH1_ENST00000380406.5_Splice_Site_p.V136_splice|HSPH1_ENST00000445273.2_Splice_Site_p.V179_splice|HSPH1_ENST00000429785.2_Intron	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	177					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTTTCCTTACCAGCTGTCATG	0.398000													11	479					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210001459	210001459	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:210001459T>A	ENST00000491415.2	+	1	108	c.51T>A	c.(49-51)acT>acA	p.T17T		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	17					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ACACCCTAACTAAAAAGCAGA	0.547000											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	103					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16910759	16910759	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:16910759G>A	ENST00000524140.2	+	17	3940	c.3522G>A	c.(3520-3522)gtG>gtA	p.V1174V	NWD1_ENST00000552788.1_Silent_p.V1174V|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Silent_p.V968V|NWD1_ENST00000379808.3_Silent_p.V1174V|NWD1_ENST00000339803.6_Silent_p.V1039V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1174							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGCCCCCGTGAGCCTGCTGG	0.617000													30	31					0	0	1	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99512729	99512729	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:99512729C>T	ENST00000535714.1	-	4	939	c.134G>A	c.(133-135)gGg>gAg	p.G45E	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000378919.6_Missense_Mutation_p.G99E	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	99					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CATGCAGACCCCTGACTCCAG	0.627000													8	862					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378000													4	153					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127627236	127627236	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:127627236C>T	ENST00000508053.1	-	55	7251	c.6277G>A	c.(6277-6279)Gga>Aga	p.G2093R	FBN2_ENST00000262464.4_Missense_Mutation_p.G2093R			P35556	FBN2_HUMAN	fibrillin 2	2093	EGF-like 35; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATCTCCGTCCATTATCAGAT	0.438000													21	201					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60766001	60766001	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:60766001C>T	ENST00000446119.2	+	4	1057	c.38C>T	c.(37-39)gCc>gTc	p.A13V	MRC2_ENST00000303375.5_Silent_p.S1067S			Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	0					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTGGCCCTAGCCCTGCTCCCA	0.637000													13	140					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103293529	103293529	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:103293529A>T	ENST00000520539.1	-	41	6521	c.5915T>A	c.(5914-5916)cTa>cAa	p.L1972Q	UBR5_ENST00000521922.1_Missense_Mutation_p.L1966Q|UBR5_ENST00000220959.4_Missense_Mutation_p.L1972Q	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1972					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTTGCGTTCTAGTTGAGGTGT	0.373000													8	192					0	0	1	0	0
KLF13	51621	broad.mit.edu	37	15	31664225	31664225	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:31664225T>C	ENST00000307145.3	+	2	948	c.590T>C	c.(589-591)tTc>tCc	p.F197S	KLF13_ENST00000560473.1_Missense_Mutation_p.F9S	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	197					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		GAGAGGCCCTTCGCCTGCAGC	0.662000													4	8					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398000									Pendred syndrome				6	376					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59284527	59284527	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:59284527C>G	ENST00000320743.3	-	4	721	c.435G>C	c.(433-435)caG>caC	p.Q145H	LRIG3_ENST00000379141.4_Missense_Mutation_p.Q85H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	145						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCAAGGGACTGAAACTCTT	0.388000			T	ROS1	NSCLC								11	49					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154076585	154076585	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:154076585A>T	ENST00000368559.3	-	13	1793	c.1722T>A	c.(1720-1722)aaT>aaA	p.N574K	NUP210L_ENST00000271854.3_Missense_Mutation_p.N574K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	574						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGGTCTCTTTATTTATGTGAT	0.378000													5	225					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77275589	77275589	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:77275589C>T	ENST00000251089.2	-	2	574	c.462G>A	c.(460-462)tcG>tcA	p.S154S	ANGEL1_ENST00000554941.1_5'UTR	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	154										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ACTGGGGCTCCGACTGCATGG	0.632000													4	39					0	0	1	0	0
SC5D	6309	broad.mit.edu	37	11	121177998	121177998	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:121177998C>T	ENST00000264027.4	+	5	1051	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SC5D_ENST00000534230.1_Intron|SC5D_ENST00000392789.2_Missense_Mutation_p.S226L	NM_006918.4	NP_008849.2			sterol-C5-desaturase																		ATTAATGGCTCAGCTCATCAT	0.373000													8	331					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688523	109688523	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:109688523T>G	ENST00000277225.5	+	3	2619	c.2330T>G	c.(2329-2331)aTc>aGc	p.I777S	ZNF462_ENST00000457913.1_Missense_Mutation_p.I777S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	777					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTCAGAAACATCACCCACGAT	0.468000													4	197					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48677037	48677037	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:48677037G>T	ENST00000352832.5	+	16	3810	c.3438G>T	c.(3436-3438)aaG>aaT	p.K1146N	CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K1146N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1169N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1169N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1169					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGAGGCCAAGAGTTCCTTTG	0.642000													5	22					5.9392e-07	6.60231e-07	1	1	0
FRYL	285527	broad.mit.edu	37	4	48523234	48523234	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:48523234T>A	ENST00000358350.4	-	55	8126		c.e55-2		FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000507873.2_Splice_Site|FRYL_ENST00000503238.1_Splice_Site	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTGTTTAACTAAAAAGAGAA	0.373000													7	90					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938760	119938760	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:119938760G>C	ENST00000297350.4	-	4	1168	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	264	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTATATCTTGGTCTTTGTTT	0.358000													43	100					0	0	1	0	0
PLIN2	123	broad.mit.edu	37	9	19126128	19126128	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:19126128C>A	ENST00000276914.2	-	3	389	c.210G>T	c.(208-210)caG>caT	p.Q70H	PLIN2_ENST00000380464.3_Missense_Mutation_p.Q70H|PLIN2_ENST00000411567.1_Missense_Mutation_p.Q70H|PLIN2_ENST00000380465.3_Missense_Mutation_p.Q70H	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	70					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GCTCTAGCTTCTGGATGATGG	0.532000													16	353					2.35188e-11	2.76195e-11	1	1	0
SPRED1	161742	broad.mit.edu	37	15	38631947	38631947	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:38631947G>C	ENST00000299084.4	+	5	1293	c.433G>C	c.(433-435)Gag>Cag	p.E145Q		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	145					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGCAAATGAAGAGGATTCTTC	0.388000									Legius syndrome				3	91					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133931619	133931619	+	Splice_Site	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:133931619A>T	ENST00000220616.4	+	21	4418		c.e21-1		TG_ENST00000377869.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTTTTTCTAGTTAAGTGTC	0.418000													6	90					0	0	1	0	0
SYTL1	84958	broad.mit.edu	37	1	27680218	27680218	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:27680218C>T	ENST00000543823.1	+	14	2026	c.1564C>T	c.(1564-1566)Ctg>Ttg	p.L522L	SYTL1_ENST00000318074.5_Silent_p.L510L|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	522					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCTATGGGCTGCAGGTGCC	0.617000													3	36					0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172841199	172841199	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:172841199C>T	ENST00000264108.4	+	9	963	c.927C>T	c.(925-927)ttC>ttT	p.F309F	HAT1_ENST00000392584.1_Silent_p.F224F|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	309					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGCAAGGATTCAATGAAGATA	0.333000													3	54					0	0	1	0	0
MT-ND6	4541	broad.mit.edu	37	MT	14556	14556	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrM:14556A>G	ENST00000361681.2	-	1	117	c.118T>C	c.(118-120)Tgt>Cgt	p.C40R						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						AATAATAACACACCCGACCAC	0.393000													18	0					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111933013	111933013	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:111933013C>T	ENST00000375741.2	+	16	2027	c.1777C>T	c.(1777-1779)Cca>Tca	p.P593S	ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P415S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.P543S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.P415S|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P500S|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.P415S|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.P337S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P415S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.P572S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P490S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	593					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCATTCAGTGCCATCTCATAC	0.532000													5	414					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119244139	119244139	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:119244139T>C	ENST00000260187.2	-	2	346	c.52A>G	c.(52-54)Aca>Gca	p.T18A	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	18	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGGGCATCTGTGTAGCGGGCC	0.582000													3	45					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148854029	148854029	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:148854029C>T	ENST00000367467.3	+	14	2136	c.1661C>T	c.(1660-1662)cCg>cTg	p.P554L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	554							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TACCGAGGCCCGTTCTGCGGG	0.592000													4	202					0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16168712	16168712	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:16168712T>A	ENST00000380289.2	+	2	1096	c.698T>A	c.(697-699)aTt>aAt	p.I233N		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	233					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TACTACTTCATTGCTAAAAAT	0.428000													5	104					0	0	1	0	0
FBXL5	26234	broad.mit.edu	37	4	15613936	15613936	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:15613936C>T	ENST00000341285.3	-	10	2076	c.1952G>A	c.(1951-1953)tGt>tAt	p.C651Y	FBXL5_ENST00000382358.4_Missense_Mutation_p.C525Y|FBXL5_ENST00000412094.2_Missense_Mutation_p.C634Y	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	651					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CAGAGAAGGACATGCTGAAAC	0.383000													3	46					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77798620	77798620	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:77798620G>T	ENST00000407578.2	-	20	3171	c.2905C>A	c.(2905-2907)Cat>Aat	p.H969N	MYCBP2_ENST00000544440.2_Missense_Mutation_p.H931N|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H931N|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	931					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTGCCCATGCTGCCCATAA	0.348000													43	110					9.0599e-49	1.13373e-48	1	1	0
RICTOR	253260	broad.mit.edu	37	5	38945658	38945658	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:38945658C>G	ENST00000357387.3	-	34	4598	c.4568G>C	c.(4567-4569)tGt>tCt	p.C1523S	RICTOR_ENST00000296782.5_Missense_Mutation_p.C1547S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1523					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AATACAGACACAATAAAGGCA	0.403000													20	53					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123984267	123984267	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:123984267A>G	ENST00000369005.1	+	12	7913	c.7573A>G	c.(7573-7575)Att>Gtt	p.I2525V	TACC2_ENST00000369001.1_Missense_Mutation_p.I229V|TACC2_ENST00000368999.1_Missense_Mutation_p.I615V|TACC2_ENST00000369000.1_Missense_Mutation_p.I225V|TACC2_ENST00000334433.3_Missense_Mutation_p.I2525V|TACC2_ENST00000515603.1_Missense_Mutation_p.I2480V|TACC2_ENST00000260733.3_Missense_Mutation_p.I603V|TACC2_ENST00000513429.1_Missense_Mutation_p.I671V|TACC2_ENST00000369004.3_Missense_Mutation_p.I615V|TACC2_ENST00000360561.3_Missense_Mutation_p.I603V|TACC2_ENST00000358010.1_Missense_Mutation_p.I671V|TACC2_ENST00000515273.1_Missense_Mutation_p.I2529V|TACC2_ENST00000453444.2_Missense_Mutation_p.I2529V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2525						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCCTATGAAATTGAATATAT	0.443000													7	154					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46058626	46058626	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:46058626G>T	ENST00000536708.2	+	13	1565	c.1456G>T	c.(1456-1458)Gca>Tca	p.A486S	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.A461S|CDK5RAP3_ENST00000578663.1_3'UTR|RP11-6N17.10_ENST00000578239.1_RNA	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	461					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GCAGCAGGAGGCACTTGAGGA	0.567000													6	157					1.26484e-09	1.46288e-09	1	1	0
ADAM11	4185	broad.mit.edu	37	17	42850678	42850678	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:42850678C>T	ENST00000200557.6	+	11	1044	c.875C>T	c.(874-876)aCa>aTa	p.T292I	ADAM11_ENST00000535346.1_Missense_Mutation_p.T92I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	292	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCCATGGAAACATGGGCAGAT	0.612000													17	62					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88421113	88421113	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:88421113C>T	ENST00000372071.2	+	8	1301	c.1074C>T	c.(1072-1074)ccC>ccT	p.P358P	OPN4_ENST00000241891.5_Silent_p.P347P	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	347					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TCCACAACCCCATCATTTACG	0.612000													64	128					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156509711	156509711	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:156509711G>C	ENST00000361170.2	-	24	2821	c.2811C>G	c.(2809-2811)gaC>gaG	p.D937E		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	937					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTCTGCTTGTCCAGAACCA	0.498000													84	219					0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78184631	78184631	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:78184631T>A	ENST00000555761.1	-	13	1519	c.1491A>T	c.(1489-1491)ttA>ttT	p.L497F	SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Splice_Site|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000261531.7_Splice_Site			Q13573	SNW1_HUMAN	SNW domain containing 1	0					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)		GGAACAAATCTAAGGAAAAGG	0.428000													5	223					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18787304	18787304	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:18787304G>A	ENST00000396576.2	+	3	690	c.189G>A	c.(187-189)gcG>gcA	p.A63A	CACNB2_ENST00000377331.2_Silent_p.A90A|CACNB2_ENST00000352115.6_Silent_p.A118A|CACNB2_ENST00000377329.4_Silent_p.A64A|CACNB2_ENST00000324631.7_Silent_p.A118A|CACNB2_ENST00000282343.8_Silent_p.A90A|CACNB2_ENST00000377315.4_Silent_p.A70A|CACNB2_ENST00000377319.3_Silent_p.A63A|CACNB2_ENST00000377328.1_Silent_p.A118A	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	118					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTGCATTTGCGGTTCGGACAA	0.448000													3	91					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160560786	160560786	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:160560786C>T	ENST00000366963.4	+	7	1310	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	SLC22A1_ENST00000457470.2_Missense_Mutation_p.P388L|SLC22A1_ENST00000324965.4_Missense_Mutation_p.P388L	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	388						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GTCGAAATCCCGGGGGCCTTC	0.587000													4	70					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172115263	172115263	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:172115263T>A	ENST00000336824.4	+	26	3712	c.3613T>A	c.(3613-3615)Taa>Aaa	p.*1205K	FNDC3B_ENST00000415807.2_Nonstop_Mutation_p.*1205K|FNDC3B_ENST00000416957.1_Nonstop_Mutation_p.*1205K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	0						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTTAATGAAGTAAACCCAACA	0.328000													4	105					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457510	45457510	+	RNA	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:45457510C>T	ENST00000548424.1	+	0	448																											TTCTCTGCTCCACTATTGAGA	0.488000													6	119					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149769510	149769510	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:149769510G>T	ENST00000451292.1	+	20	3326	c.3218G>T	c.(3217-3219)aGc>aTc	p.S1073I	TCOF1_ENST00000513346.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000504761.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1036I|TCOF1_ENST00000445265.2_Missense_Mutation_p.S959I|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000323668.7_Missense_Mutation_p.S959I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1036					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAAAGCCAGCATGGCTGGG	0.582000													42	37					2.54085e-39	3.16225e-39	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48840368	48840368	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:48840368A>G	ENST00000314191.2	-	20	2278	c.2222T>C	c.(2221-2223)aTt>aCt	p.I741T	PRKDC_ENST00000338368.3_Missense_Mutation_p.I741T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	741					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATCGAGTTCAATGATGTTGTG	0.448000								Non-homologous end-joining					57	56					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63547747	63547747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr18:63547747G>T	ENST00000397968.2	+	12	2401	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*	CDH7_ENST00000323011.3_Nonsense_Mutation_p.G659*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	659					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAGGGCGGGGGAGAGGAGGA	0.478000													4	38					0.0293803	0.0300362	1	1	0
EHMT1	79813	broad.mit.edu	37	9	140611120	140611120	+	Missense_Mutation	SNP	C	C	G	rs79514677	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:140611120C>G	ENST00000460843.1	+	3	155	c.128C>G	c.(127-129)gCa>gGa	p.A43G	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.A12G|EHMT1_ENST00000462484.1_Missense_Mutation_p.A43G	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	43			A -> V (in a breast cancer sample; somatic mutation).		DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.A12V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAGAAACAGGCAGGAGAGGCC	0.562000													3	3					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255401	25255401	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:25255401G>A	ENST00000328086.7	-	6	2489	c.1686C>T	c.(1684-1686)cgC>cgT	p.R562R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	562					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTTTCACCTTGCGGTAACTCT	0.542000													4	199					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	115007012	115007012	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:115007012T>A	ENST00000358465.2	-	2	610		c.e2-2		TRIM33_ENST00000369543.2_Splice_Site	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTACACCAACTACAACATAAA	0.353000			T	RET	papillary thyroid								6	135					0	0	1	0	0
APIP	51074	broad.mit.edu	37	11	34909879	34909879	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:34909879A>T	ENST00000395787.3	-	5	636	c.422T>A	c.(421-423)aTa>aAa	p.I141K	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Missense_Mutation_p.I158K	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	141					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			TATTCCTTTTATCATCTCTTG	0.353000													5	128					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53133936	53133936	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:53133936G>T	ENST00000542638.1	-	8	1336	c.889C>A	c.(889-891)Cgg>Agg	p.R297R	ELOVL5_ENST00000541407.1_Silent_p.R324R|ELOVL5_ENST00000370918.4_Silent_p.R287R|ELOVL5_ENST00000304434.6_Silent_p.R297R			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	297					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CAATCCTTCCGCAGCTTCCTT	0.478000													12	784					4.3838e-07	4.92103e-07	1	1	0
FAM129A	116496	broad.mit.edu	37	1	184801098	184801098	+	Splice_Site	SNP	T	T	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:184801098T>A	ENST00000367511.3	-	6	795		c.e6-2		FAM129A_ENST00000487074.1_Splice_Site	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A						negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCATGTAATCTAAAGAAAAGA	0.408000													5	125					0	0	1	0	0
KRT8P12	90133	broad.mit.edu	37	3	160285898	160285898	+	RNA	SNP	C	C	T	rs4679895	by1000genomes	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:160285898C>T	ENST00000468527.1	+	0	909																											ACTCCAACATCCAGGCTGTAT	0.562000													3	59					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912404	150912404	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:150912404C>T	ENST00000329903.4	+	6	1462	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	477					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCttcagtcctggggatta	0.517000													12	299					0	0	1	0	0
FABP12	646486	broad.mit.edu	37	8	82441764	82441764	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:82441764A>T	ENST00000360464.4	-	2	217	c.155T>A	c.(154-156)aTa>aAa	p.I52K	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	52							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						TTTGGTTTTTATTGTGATGAC	0.443000													4	94					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985628	142985628	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:142985628C>A	ENST00000316549.6	-	16	2062	c.1854G>T	c.(1852-1854)aaG>aaT	p.K618N		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	618					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.K618K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAATGTTTTCCTTGCCTGGCG	0.502000													21	183					6.44725e-10	7.49452e-10	1	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918835	51918835	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:51918835T>G	ENST00000353836.5	-	6	1280	c.1059A>C	c.(1057-1059)caA>caC	p.Q353H	SIGLEC10_ENST00000356298.5_Missense_Mutation_p.Q353H|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.Q205H|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.Q295H|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.Q263H|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.Q353H|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.Q305H|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.Q295H|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.Q270H	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	353	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCCTGTTTGCTTGGGAAACCA	0.597000													9	478					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36892016	36892016	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr22:36892016G>T	ENST00000397224.4	-	7	1715	c.1622C>A	c.(1621-1623)aCc>aAc	p.T541N	FOXRED2_ENST00000366463.3_Missense_Mutation_p.T93N|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T541N|FOXRED2_ENST00000216187.6_Missense_Mutation_p.T541N	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	541					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGCTCACCGGTGGGGAGGTA	0.542000													83	146					9.47799e-51	1.19256e-50	1	1	0
VPS33A	65082	broad.mit.edu	37	12	122723269	122723269	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:122723269G>T	ENST00000267199.4	-	10	1279	c.1167C>A	c.(1165-1167)gtC>gtA	p.V389V	RP11-512M8.5_ENST00000535844.1_Silent_p.V350V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	389					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TGTAATTGTTGACCTGGAAAT	0.383000													9	145					1.58986e-06	1.75038e-06	1	1	0
MTDH	92140	broad.mit.edu	37	8	98731381	98731381	+	Silent	SNP	T	T	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:98731381T>C	ENST00000336273.3	+	10	1813	c.1485T>C	c.(1483-1485)acT>acC	p.T495T	MTDH_ENST00000519934.1_Silent_p.T439T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	495					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CCATAAGCACTAGTGATCCAG	0.413000													22	30					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90185512	90185512	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:90185512C>A	ENST00000394412.3	-	11	2392	c.2316G>T	c.(2314-2316)aaG>aaT	p.K772N		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	772					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTGGAGCTCCTTGCCCTCGA	0.692000													8	12					7.93312e-07	8.86643e-07	0.457914	1	0
PKHD1	5314	broad.mit.edu	37	6	51637542	51637542	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:51637542G>A	ENST00000371117.3	-	55	8875	c.8600C>T	c.(8599-8601)tCc>tTc	p.S2867F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2867F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2867	G8 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGTCCAGGAGTTCTTAGG	0.398000													88	135					0	0	0.870114	0	0
SSH2	85464	broad.mit.edu	37	17	28120929	28120929	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:28120929G>A	ENST00000269033.3	-	2	241	c.90C>T	c.(88-90)tgC>tgT	p.C30C	SSH2_ENST00000540801.1_Silent_p.C57C	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	30					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTGTGACCGGCATTCTTCCT	0.328000													4	156					0	0	0.150653	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499808	59499808	+	Silent	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:59499808T>A	ENST00000307144.4	+	1	767	c.669T>A	c.(667-669)atT>atA	p.I223I	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	223					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GTTTCTTGATTGGACAAAAGC	0.438000													56	113					0	0	0.870114	0	0
ATP8A1	10396	broad.mit.edu	37	4	42618092	42618092	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:42618092G>C	ENST00000381668.5	-	5	598	c.367C>G	c.(367-369)Cga>Gga	p.R123G	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123G	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	123					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCTTTATGTCGTTTCTAAAGT	0.299000													39	84					0	0	0.840704	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													6	104					0	0	0.217242	0	0
ZNF789	285989	broad.mit.edu	37	7	99084134	99084134	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:99084134C>A	ENST00000331410.5	+	5	571	c.301C>A	c.(301-303)Cca>Aca	p.P101T	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAGCTAACTCCAAAACAGAA	0.343000													40	51					4.92203e-23	5.96927e-23	0.819951	1	0
SH2D6	284948	broad.mit.edu	37	2	85662808	85662808	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:85662808G>A	ENST00000389938.2	+	19	1490	c.176G>A	c.(175-177)cGc>cAc	p.R59H	SH2D6_ENST00000481426.2_3'UTR|SH2D6_ENST00000340326.2_Missense_Mutation_p.R91H			Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	91										central_nervous_system(1)|lung(2)	3						TATACCGTGCGCCCCAGCTCA	0.652000													19	38					0	0	0.557998	0	0
FAM194A	131831	broad.mit.edu	37	3	150404112	150404112	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:150404112G>A	ENST00000295910.6	-	4	635	c.583C>T	c.(583-585)Cct>Tct	p.P195S	FAM194A_ENST00000491361.1_Missense_Mutation_p.P49S	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	195										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGACATTCAGGTTCAGCTTTC	0.388000													37	157					0	0	0.859065	0	0
LARS2	23395	broad.mit.edu	37	3	45537772	45537772	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:45537772A>G	ENST00000415258.1	+	13	1670	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	LARS2_ENST00000265537.3_Missense_Mutation_p.K510R|LARS2_ENST00000414984.1_Missense_Mutation_p.K467R|LARS2-AS1_ENST00000442534.2_RNA			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	510					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CTTAGGTGCAAGGGAGCAGCC	0.363000													103	170					0	0	0.870114	0	0
TENM4	26011	broad.mit.edu	37	11	78369474	78369474	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:78369474C>T	ENST00000278550.7	-	34	8401	c.7939G>A	c.(7939-7941)Gtc>Atc	p.V2647I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.V2647I(2)									GACACAGTGACGTTGACCCCA	0.562000													6	84					0	0	0.278610	0	0
C8A	731	broad.mit.edu	37	1	57351601	57351601	+	Splice_Site	SNP	A	A	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:57351601A>C	ENST00000361249.3	+	7	953	c.855_splice	c.e7-1	p.K286_splice		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	286	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCTGGCAGAAATTCATTTTC	0.393000													6	62					0	0	0.248553	0	0
ERCC5	2073	broad.mit.edu	37	13	103513996	103513996	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:103513996G>T	ENST00000355739.4	+	7	2235	c.812G>T	c.(811-813)gGc>gTc	p.G271V	BIVM-ERCC5_ENST00000602836.1_Silent_p.G696G	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GATGAAGGGGGCTTTCTGAAG	0.388000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	181					0.000602214	0.000629839	0.184627	1	0
SLC9A8	23315	broad.mit.edu	37	20	48479596	48479596	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:48479596T>G	ENST00000417961.1	+	9	1102	c.892T>G	c.(892-894)Tct>Gct	p.S298A	SLC9A8_ENST00000361573.2_Missense_Mutation_p.S282A|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Missense_Mutation_p.S63A	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	282						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGGCTTAATTTCTGCATTAAT	0.418000													52	150					0	0	0.870114	0	0
TNNT2	7139	broad.mit.edu	37	1	201335996	201335996	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:201335996C>A	ENST00000509001.1	-	7	459	c.173G>T	c.(172-174)gGc>gTc	p.G58V	TNNT2_ENST00000360372.4_Missense_Mutation_p.G53V|TNNT2_ENST00000421663.2_Missense_Mutation_p.G60V|TNNT2_ENST00000367315.2_Missense_Mutation_p.G58V|TNNT2_ENST00000367317.4_Missense_Mutation_p.G58V|TNNT2_ENST00000367320.2_Missense_Mutation_p.G67V|TNNT2_ENST00000367318.5_Missense_Mutation_p.G58V|TNNT2_ENST00000367322.1_Missense_Mutation_p.G58V|TNNT2_ENST00000458432.2_Missense_Mutation_p.G70V|TNNT2_ENST00000236918.7_Missense_Mutation_p.G63V	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	68					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CTCCATTGGGCCATCTGGAGG	0.597000													57	99					9.72345e-25	1.19191e-24	0.870114	1	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938760	119938760	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:119938760G>C	ENST00000297350.4	-	4	1168	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	264	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTATATCTTGGTCTTTGTTT	0.358000													119	254					0	0	0.870114	0	0
NCOA5	57727	broad.mit.edu	37	20	44693835	44693835	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:44693835C>A	ENST00000290231.6	-	6	826	c.662G>T	c.(661-663)cGa>cTa	p.R221L		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GCCCAGGTCTCGCACCTTCCG	0.483000													5	363					0.00116845	0.00121093	0.217242	1	0
AAR2	25980	broad.mit.edu	37	20	34832710	34832710	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:34832710G>T	ENST00000373932.3	+	3	1195	c.849G>T	c.(847-849)cgG>cgT	p.R283R	AAR2_ENST00000320849.4_Silent_p.R283R|AAR2_ENST00000397286.3_Silent_p.R283R	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		TCCTGTGCCGGTCAGAAGCAG	0.527000													9	127					0.00316338	0.00324888	0.479597	1	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423000													3	69					0	0	0.115264	0	0
UTP11L	51118	broad.mit.edu	37	1	38484984	38484984	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:38484984T>A	ENST00000373014.4	+	6	557	c.496T>A	c.(496-498)Ttt>Att	p.F166I	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	166					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGACAGAGTCTTTAATAGGCC	0.423000													12	153					0	0	0.387290	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	103					0	0	0.217242	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021150	46021150	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr21:46021150C>T	ENST00000380102.2	+	1	654	c.629C>T	c.(628-630)aCg>aTg	p.T210M	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	210	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						AGCTCCTGCACGCCCTCGTGC	0.667000													5	128					0	0	0.278610	0	0
KRT28	162605	broad.mit.edu	37	17	38955746	38955746	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:38955746C>T	ENST00000306658.7	-	1	465	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	134	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TAGTCATGATCAAGTCCACGG	0.388000													49	445					0	0	0.870114	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840160	128840160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:128840160G>A	ENST00000310343.9	-	22	4905	c.4906C>T	c.(4906-4908)Cag>Tag	p.Q1636*	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q1287*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q1287*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1636	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCTGAAGCTGAGTGACATGA	0.502000													26	64					0	0	0.693898	0	0
C3orf38	285237	broad.mit.edu	37	3	88199301	88199301	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:88199301C>T	ENST00000318887.3	+	1	409	c.99C>T	c.(97-99)gtC>gtT	p.V33V	C3orf38_ENST00000486971.1_Silent_p.V33V	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	33					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GCGACACTGTCACCAACCGCC	0.617000													36	46					0	0	0.796494	0	0
PDIA6	10130	broad.mit.edu	37	2	10927548	10927548	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:10927548G>T	ENST00000404371.2	-	13	1509	c.1172C>A	c.(1171-1173)gCt>gAt	p.A391D	PDIA6_ENST00000540494.1_Missense_Mutation_p.A336D|PDIA6_ENST00000404824.2_Missense_Mutation_p.A387D|PDIA6_ENST00000381611.4_Missense_Mutation_p.A344D|PDIA6_ENST00000272227.3_Missense_Mutation_p.A339D			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	339					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTGGGCTCCAGCTTCTGTCCA	0.468000													30	48					4.3181e-19	5.12774e-19	0.769981	1	0
ZNF474	133923	broad.mit.edu	37	5	121488728	121488728	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:121488728T>G	ENST00000296600.4	+	2	1426	c.1043T>G	c.(1042-1044)aTt>aGt	p.I348S	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	348						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GATAAGGTAATTCATGCCACA	0.473000													39	84					0	0	0.840704	0	0
CDH9	1007	broad.mit.edu	37	5	26890658	26890658	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:26890658C>T	ENST00000231021.4	-	8	1441	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	423	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATCAGTATGCCGATCAACAG	0.388000													6	213					0	0	0.217242	0	0
ZNF831	128611	broad.mit.edu	37	20	57768699	57768699	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:57768699G>A	ENST00000371030.2	+	1	2625	c.2625G>A	c.(2623-2625)caG>caA	p.Q875Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	875						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTGCCAGGCAGGTGGGCGAGC	0.652000													6	69					0	0	0.248553	0	0
GPR116	221395	broad.mit.edu	37	6	46823756	46823756	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:46823756T>A	ENST00000283296.7	-	20	4204	c.3916A>T	c.(3916-3918)Agt>Tgt	p.S1306C	GPR116_ENST00000265417.7_Missense_Mutation_p.S1306C|GPR116_ENST00000545669.1_Missense_Mutation_p.S735C|GPR116_ENST00000362015.4_Missense_Mutation_p.S1286C|GPR116_ENST00000456426.2_Missense_Mutation_p.S1164C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1306					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTGGAGAACTCATAGAAAAC	0.413000													5	193					0	0	0.184627	0	0
NWD1	284434	broad.mit.edu	37	19	16910759	16910759	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:16910759G>A	ENST00000524140.2	+	17	3940	c.3522G>A	c.(3520-3522)gtG>gtA	p.V1174V	NWD1_ENST00000379808.3_Silent_p.V1174V|NWD1_ENST00000552788.1_Silent_p.V1174V|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Silent_p.V968V|NWD1_ENST00000339803.6_Silent_p.V1039V	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1174							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGCCCCCGTGAGCCTGCTGG	0.617000													36	61					0	0	0.853193	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779265	156779265	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:156779265C>G	ENST00000392306.2	-	7	901	c.762G>C	c.(760-762)agG>agC	p.R254S	SH2D2A_ENST00000368199.3_Missense_Mutation_p.R244S|SH2D2A_ENST00000368198.3_Missense_Mutation_p.R226S	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	244	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCTTGGGCCTGAGCAGCT	0.657000													6	129					0	0	0.248553	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:129116038C>T	ENST00000514355.1	-	0	412																				lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567000													6	246					0	0	0.307466	0	0
EHMT1	79813	broad.mit.edu	37	9	140611120	140611120	+	Missense_Mutation	SNP	C	C	G	rs79514677	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:140611120C>G	ENST00000460843.1	+	3	155	c.128C>G	c.(127-129)gCa>gGa	p.A43G	EHMT1_ENST00000334856.6_Missense_Mutation_p.A12G|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.A43G	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	43			A -> V (in a breast cancer sample; somatic mutation).		DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.A12V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAGAAACAGGCAGGAGAGGCC	0.562000													20	49					0	0	0.681144	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618806	77618806	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:77618806A>G	ENST00000521891.2	+	2	2931	c.2483A>G	c.(2482-2484)aAc>aGc	p.N828S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.N828S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N828S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N828S|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	828						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAGCCCAGAACATAGGCCTG	0.542000										HNSCC(33;0.089)			11	18					0	0	0.387290	0	0
EDNRB	1910	broad.mit.edu	37	13	78477314	78477314	+	Missense_Mutation	SNP	C	C	A	rs77132068	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:78477314C>A	ENST00000377211.4	-	4	1200	c.1048G>T	c.(1048-1050)Gtt>Ttt	p.V350F	EDNRB_ENST00000446573.1_Missense_Mutation_p.V260F|EDNRB_ENST00000334286.5_Missense_Mutation_p.V260F	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	260					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GTCTTCTGAACGGGATGAAGC	0.408000													25	262					9.57634e-11	1.10273e-10	0.654019	1	0
MPRIP	23164	broad.mit.edu	37	17	17064559	17064559	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:17064559G>C	ENST00000395811.5	+	15	2141	c.2052G>C	c.(2050-2052)gaG>gaC	p.E684D	MPRIP_ENST00000444976.1_Missense_Mutation_p.E646D|MPRIP_ENST00000395804.3_Missense_Mutation_p.E684D|MPRIP_ENST00000341712.4_Missense_Mutation_p.E684D	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	684	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AACAGCTGGAGCAGAGCCAGA	0.567000													22	23					0	0	0.654019	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602905	138602905	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:138602905A>G	ENST00000440172.1	-	2	1515	c.1467T>C	c.(1465-1467)ccT>ccC	p.P489P	KIAA1549_ENST00000242365.4_Silent_p.P439P|KIAA1549_ENST00000422774.1_Silent_p.P489P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	489						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGGGACGATAGGTCTGGAGG	0.458000			O	BRAF	pilocytic astrocytoma								17	27					0	0	0.520397	0	0
EPS15L1	58513	broad.mit.edu	37	19	16539554	16539554	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:16539554T>A	ENST00000602009.1	-	2	950	c.55A>T	c.(55-57)Att>Ttt	p.I19F	EPS15L1_ENST00000594975.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.I173F|EPS15L1_ENST00000248070.6_Missense_Mutation_p.I173F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I173F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I173F			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	173	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCCTTGTCAATGTCACTGAGG	0.577000													7	22					0	0	0.307466	0	0
DAPL1	92196	broad.mit.edu	37	2	159672329	159672329	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:159672329G>T	ENST00000309950.3	+	4	376	c.320G>T	c.(319-321)tGt>tTt	p.C107F	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	107					apoptosis|cell differentiation					prostate(1)	1						CCTCGAAAATGTTAAGCCTGG	0.478000													15	111					6.31663e-08	7.20095e-08	0.479597	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													6	104					0	0	0.248553	0	0
SLIT1	6585	broad.mit.edu	37	10	98817000	98817000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:98817000C>T	ENST00000266058.4	-	12	1369	c.1124G>A	c.(1123-1125)gGt>gAt	p.G375D	SLIT1_ENST00000371070.4_Missense_Mutation_p.G375D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	375					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAAACACACCACGGGGGAG	0.567000													33	64					0	0	0.804634	0	0
VRTN	55237	broad.mit.edu	37	14	74823530	74823530	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:74823530T>G	ENST00000256362.4	+	2	285	c.44T>G	c.(43-45)cTg>cGg	p.L15R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	15					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGCAGGAGCTGCAGGAAGCA	0.587000													27	45					0	0	0.804634	0	0
CHST10	9486	broad.mit.edu	37	2	101009797	101009797	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:101009797G>C	ENST00000264249.3	-	7	1366	c.981C>G	c.(979-981)atC>atG	p.I327M	CHST10_ENST00000409701.1_Missense_Mutation_p.I327M|CHST10_ENST00000542617.1_Missense_Mutation_p.I375M	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	327					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTCGTTTGCTGATGCCCAGGA	0.488000													14	204					0	0	0.479597	0	0
AVIL	10677	broad.mit.edu	37	12	58207197	58207197	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:58207197C>A	ENST00000537081.1	-	3	129	c.130G>T	c.(130-132)Gtg>Ttg	p.V44L	AVIL_ENST00000257861.3_Missense_Mutation_p.V51L			O75366	AVIL_HUMAN	advillin	51	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTGGCCACTCTCCGGGTC	0.577000													48	81					8.04919e-23	9.65902e-23	0.870114	1	0
HTR7	3363	broad.mit.edu	37	10	92616929	92616929	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:92616929G>A	ENST00000371721.3	-	1	742	c.500C>T	c.(499-501)aCg>aTg	p.T167M	HTR7_ENST00000336152.3_Missense_Mutation_p.T167M|HTR7_ENST00000371719.2_Missense_Mutation_p.T167M|HTR7_ENST00000277874.6_Missense_Mutation_p.T167M			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	167					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GATCGAGGCCGTGCAGCACAT	0.617000													3	39					0	0	0.115264	0	0
HNRNPU	3192	broad.mit.edu	37	1	245022119	245022119	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:245022119T>C	ENST00000444376.2	-	6	1319	c.1085A>G	c.(1084-1086)tAt>tGt	p.Y362C	HNRNPU_ENST00000283179.9_Missense_Mutation_p.Y381C	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	381	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTTAGAGAATACCCATAAGA	0.289000													4	94					0	0	0.150653	0	0
ANGEL2	90806	broad.mit.edu	37	1	213178426	213178426	+	Silent	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:213178426A>G	ENST00000366962.3	-	5	1237	c.1083T>C	c.(1081-1083)taT>taC	p.Y361Y	ANGEL2_ENST00000360506.2_Silent_p.Y192Y|ANGEL2_ENST00000535388.1_Silent_p.Y192Y|ANGEL2_ENST00000540642.1_Silent_p.Y235Y|ANGEL2_ENST00000544555.1_Silent_p.Y192Y	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	361										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTATGAAACTATATAGTGGAG	0.408000													58	98					0	0	0.870114	0	0
GRSF1	2926	broad.mit.edu	37	4	71693661	71693661	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr4:71693661T>G	ENST00000254799.6	-	6	1160	c.1043A>C	c.(1042-1044)aAg>aCg	p.K348T	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.K186T|GRSF1_ENST00000545193.1_Missense_Mutation_p.K230T|GRSF1_ENST00000439371.1_Missense_Mutation_p.K186T	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	348					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGTTATATACTTAGCAGTAGG	0.373000													147	262					0	0	0.870114	0	0
IRS1	3667	broad.mit.edu	37	2	227662313	227662313	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:227662313C>T	ENST00000305123.4	-	1	2162	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	381	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGGCGAGCAGCGGGAAGCCGG	0.677000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	44					0	0	0.150653	0	0
BUB1B	701	broad.mit.edu	37	15	40476084	40476084	+	Splice_Site	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:40476084G>C	ENST00000287598.6	+	6	946	c.751_splice	c.e6+1	p.A251_splice	BUB1B_ENST00000412359.3_Splice_Site_p.A265_splice	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	251					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGCTCTCAAGGGTAAGTTTGT	0.388000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				20	42					0	0	0.575678	0	0
DGCR14	8220	broad.mit.edu	37	22	19127229	19127229	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr22:19127229T>C	ENST00000252137.6	-	5	627	c.584A>G	c.(583-585)aAt>aGt	p.N195S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	195					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GAGTTCGAGATTATCTTTCTG	0.562000													5	185					0	0	0.217242	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061824	29061824	+	RNA	SNP	C	C	T	rs147619741	by1000genomes	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:29061824C>T	ENST00000582557.1	+	0	744																											TAGCAGATGACAAGTTTATAT	0.308000													12	88					0	0	0.387290	0	0
KLF13	51621	broad.mit.edu	37	15	31664225	31664225	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:31664225T>C	ENST00000307145.3	+	2	948	c.590T>C	c.(589-591)tTc>tCc	p.F197S	KLF13_ENST00000560473.1_Missense_Mutation_p.F9S	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	197					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		GAGAGGCCCTTCGCCTGCAGC	0.662000													4	11					0	0	0.150653	0	0
LRIG3	121227	broad.mit.edu	37	12	59284527	59284527	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:59284527C>G	ENST00000320743.3	-	4	721	c.435G>C	c.(433-435)caG>caC	p.Q145H	LRIG3_ENST00000379141.4_Missense_Mutation_p.Q85H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	145						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCAAGGGACTGAAACTCTT	0.388000			T	ROS1	NSCLC								13	128					0	0	0.411799	0	0
FAM9B	171483	broad.mit.edu	37	X	9000465	9000465	+	Silent	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:9000465G>A	ENST00000362066.3	-	2	389	c.201C>T	c.(199-201)aaC>aaT	p.N67N	FAM9B_ENST00000428477.1_Silent_p.N22N|FAM9B_ENST00000327220.5_Silent_p.N22N			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	22						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CTGTAAAACGGTTTCTTTCCT	0.398000													5	251					0	0	0.217242	0	0
TDRD7	23424	broad.mit.edu	37	9	100249509	100249509	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:100249509G>A	ENST00000355295.4	+	16	3266	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	TDRD7_ENST00000540902.1_Missense_Mutation_p.E311K|TDRD7_ENST00000422139.2_Missense_Mutation_p.E917K	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	991	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATCTGTGTATGAGCTGGATTA	0.418000													5	219					0	0	0.184627	0	0
CACNA1G	8913	broad.mit.edu	37	17	48677037	48677037	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:48677037G>T	ENST00000352832.5	+	16	3810	c.3438G>T	c.(3436-3438)aaG>aaT	p.K1146N	CACNA1G_ENST00000503485.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.K1146N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.K1146N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.K1169N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.K1146N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.K1169N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.K1146N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.K1169N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.K1169N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.K1169N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1169					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGAGGCCAAGAGTTCCTTTG	0.642000													9	38					0.000442599	0.000467188	0.335167	1	0
TIPIN	54962	broad.mit.edu	37	15	66641437	66641437	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:66641437C>G	ENST00000261881.4	-	6	521	c.436G>C	c.(436-438)Gat>Cat	p.D146H	TIPIN_ENST00000367709.4_Missense_Mutation_p.D45H	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	146					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						ATAGGGAGATCAAGTCGAATT	0.294000													4	51					0	0	0.150653	0	0
LURAP1L	286343	broad.mit.edu	37	9	12775994	12775994	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:12775994G>A	ENST00000319264.3	+	1	975	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	97																	GGAGAGGCTAGAAACCAAGCT	0.627000													5	15					0	0	0.307466	0	0
GRPR	2925	broad.mit.edu	37	X	16168712	16168712	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrX:16168712T>A	ENST00000380289.2	+	2	1096	c.698T>A	c.(697-699)aTt>aAt	p.I233N		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	233					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TACTACTTCATTGCTAAAAAT	0.428000													4	108					0	0	0.150653	0	0
MYCBP2	23077	broad.mit.edu	37	13	77798620	77798620	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:77798620G>T	ENST00000407578.2	-	20	3171	c.2905C>A	c.(2905-2907)Cat>Aat	p.H969N	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H931N|MYCBP2_ENST00000544440.2_Missense_Mutation_p.H931N	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	931					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTGCCCATGCTGCCCATAA	0.348000													45	95					2.01872e-29	2.50145e-29	0.870114	1	0
RICTOR	253260	broad.mit.edu	37	5	38945658	38945658	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:38945658C>G	ENST00000357387.3	-	34	4598	c.4568G>C	c.(4567-4569)tGt>tCt	p.C1523S	RICTOR_ENST00000296782.5_Missense_Mutation_p.C1547S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1523					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AATACAGACACAATAAAGGCA	0.403000													51	128					0	0	0.870114	0	0
TACC2	10579	broad.mit.edu	37	10	123984267	123984267	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr10:123984267A>G	ENST00000369005.1	+	12	7913	c.7573A>G	c.(7573-7575)Att>Gtt	p.I2525V	TACC2_ENST00000515273.1_Missense_Mutation_p.I2529V|TACC2_ENST00000453444.2_Missense_Mutation_p.I2529V|TACC2_ENST00000369004.3_Missense_Mutation_p.I615V|TACC2_ENST00000369001.1_Missense_Mutation_p.I229V|TACC2_ENST00000260733.3_Missense_Mutation_p.I603V|TACC2_ENST00000334433.3_Missense_Mutation_p.I2525V|TACC2_ENST00000515603.1_Missense_Mutation_p.I2480V|TACC2_ENST00000369000.1_Missense_Mutation_p.I225V|TACC2_ENST00000360561.3_Missense_Mutation_p.I603V|TACC2_ENST00000358010.1_Missense_Mutation_p.I671V|TACC2_ENST00000368999.1_Missense_Mutation_p.I615V|TACC2_ENST00000513429.1_Missense_Mutation_p.I671V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2525						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCCTATGAAATTGAATATAT	0.443000													24	364					0	0	0.639603	0	0
ADAM11	4185	broad.mit.edu	37	17	42850678	42850678	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:42850678C>T	ENST00000200557.6	+	11	1044	c.875C>T	c.(874-876)aCa>aTa	p.T292I	ADAM11_ENST00000535346.1_Missense_Mutation_p.T92I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	292	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCCATGGAAACATGGGCAGAT	0.612000													78	143					0	0	0.870114	0	0
IQGAP3	128239	broad.mit.edu	37	1	156509711	156509711	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:156509711G>C	ENST00000361170.2	-	24	2821	c.2811C>G	c.(2809-2811)gaC>gaG	p.D937E		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	937					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTCTGCTTGTCCAGAACCA	0.498000													61	97					0	0	0.870114	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102505823	102505823	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:102505823C>T	ENST00000360184.4	+	61	11699	c.11535C>T	c.(11533-11535)aaC>aaT	p.N3845N	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3845					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						AGAACCCGAACCTGAAGGGTG	0.542000													5	126					0	0	0.184627	0	0
TCOF1	6949	broad.mit.edu	37	5	149769510	149769510	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:149769510G>T	ENST00000451292.1	+	20	3326	c.3218G>T	c.(3217-3219)aGc>aTc	p.S1073I	TCOF1_ENST00000323668.7_Missense_Mutation_p.S959I|TCOF1_ENST00000504761.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000445265.2_Missense_Mutation_p.S959I|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1073I|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1036I|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1036I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1036					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAAAGCCAGCATGGCTGGG	0.582000													28	39					5.45727e-16	6.4137e-16	0.729181	1	0
PRKDC	5591	broad.mit.edu	37	8	48840368	48840368	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:48840368A>G	ENST00000314191.2	-	20	2278	c.2222T>C	c.(2221-2223)aTt>aCt	p.I741T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I741T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	741					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATCGAGTTCAATGATGTTGTG	0.448000								Non-homologous end-joining					25	37					0	0	0.667858	0	0
CDH7	1005	broad.mit.edu	37	18	63547747	63547747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr18:63547747G>T	ENST00000397968.2	+	12	2401	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*	CDH7_ENST00000323011.3_Nonsense_Mutation_p.G659*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	659					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAGGGCGGGGGAGAGGAGGA	0.478000													8	104					1.06961e-07	1.20729e-07	0.278610	1	0
MUC16	94025	broad.mit.edu	37	19	9046473	9046473	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:9046473C>T	ENST00000397910.4	-	5	35361	c.35158G>A	c.(35158-35160)Gcc>Acc	p.A11720T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11722	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACTGGTGGCCATTACAGGT	0.517000													4	143					0	0	0.150653	0	0
MT-ND6	4541	broad.mit.edu	37	MT	14556	14556	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chrM:14556A>G	ENST00000361681.2	-	1	117	c.118T>C	c.(118-120)Tgt>Cgt	p.C40R						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						AATAATAACACACCCGACCAC	0.393000													33	3					0	0	0.788014	0	0
KCNV2	169522	broad.mit.edu	37	9	2718621	2718621	+	Silent	SNP	C	C	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:2718621C>T	ENST00000382082.3	+	1	1120	c.882C>T	c.(880-882)ggC>ggT	p.G294G		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	294						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AGGGCGAGGGCGGCCCAGACC	0.682000													4	55					0	0	0.184627	0	0
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1369										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473000													6	118					0	0	0.217242	0	0
FOXRED2	80020	broad.mit.edu	37	22	36892016	36892016	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr22:36892016G>T	ENST00000397224.4	-	7	1715	c.1622C>A	c.(1621-1623)aCc>aAc	p.T541N	FOXRED2_ENST00000397223.4_Missense_Mutation_p.T541N|FOXRED2_ENST00000216187.6_Missense_Mutation_p.T541N|FOXRED2_ENST00000366463.3_Missense_Mutation_p.T93N	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	541					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGCTCACCGGTGGGGAGGTA	0.542000													91	137					6.26597e-58	7.84967e-58	0.870114	1	0
VPS33A	65082	broad.mit.edu	37	12	122723269	122723269	+	Silent	SNP	G	G	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:122723269G>T	ENST00000267199.4	-	10	1279	c.1167C>A	c.(1165-1167)gtC>gtA	p.V389V	RP11-512M8.5_ENST00000535844.1_Silent_p.V350V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	389					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TGTAATTGTTGACCTGGAAAT	0.383000													17	255					2.23348e-06	2.47201e-06	0.500413	1	0
MTDH	92140	broad.mit.edu	37	8	98731381	98731381	+	Silent	SNP	T	T	C			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:98731381T>C	ENST00000336273.3	+	10	1813	c.1485T>C	c.(1483-1485)acT>acC	p.T495T	MTDH_ENST00000519934.1_Silent_p.T439T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	495					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CCATAAGCACTAGTGATCCAG	0.413000													85	152					0	0	0.870114	0	0
NBPF1	55672	broad.mit.edu	37	1	16907916	16907917	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:16907916_16907917insG	ENST00000430580.2	-	15	2264_2265	c.1379_splice	c.e15+1	p.PG459_splice		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	459	NBPF 2.					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)		CAGTGTTACCTGGGGGCAGATG	0.436													10	845	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								17	328	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:32673442_32673443insG	ENST00000537469.1	+	5	1447_1448	c.1400_1401insG	c.(1399-1401)tggfs	p.W467fs	IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.550													9	239	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													13	312	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													8	253	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													17	254	---	---	---	---					
USP24	23358	broad.mit.edu	37	1	55551626	55551626	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:55551626delA	ENST00000294383.6	-	56	6753	c.6754delT	c.(6754-6756)atfs	p.Y2252fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.Y2092fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2252					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTATCCTGATAAAACAAGGCA	0.378													11	150	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													11	290	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													10	283	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													26	492	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559													9	192	---	---	---	---					
NBPF10	100132406	broad.mit.edu	37	1	145303975	145303976	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:145303975_145303976insC	ENST00000342960.5	+	9	1407_1408	c.1372_1373insC	c.(1372-1374)cccfs	p.P458fs	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Frame_Shift_Ins_p.P187fs|NBPF10_ENST00000369339.2_Frame_Shift_Ins_p.P187fs	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	458										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAATCATCTGCCCCCAGGTAA	0.431													7	1003	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													18	428	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													12	723	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1795-1800)ccggggfs	p.PG599fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	599					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663													9	205	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091500	147091501	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:147091500_147091501insC	ENST00000234739.3	+	8	2279_2280	c.1539_1540insC	c.(1537-1542)ggccccfs	p.GP513fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	513	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGGTCCGAGGACCCCCCCCTCC	0.579			T	"""IGH@, IGL@"""	B-ALL								18	296	---	---	---	---					
NBPF20	100288142	broad.mit.edu	37	1	148342471	148342472	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:148342471_148342472insG	ENST00000369202.1	-	5	761_762	c.566_splice	c.e5+1	p.PG188_splice	NBPF20_ENST00000414710.2_Splice_Site_p.PG188_splice					neuroblastoma breakpoint family, member 20									p.P188P(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CAGTGTTACCTGGGGGCAGATG	0.431													7	874	---	---	---	---					
ADAMTSL4	54507	broad.mit.edu	37	1	150530505	150530506	+	Frame_Shift_Ins	INS	-	-	G	rs149280379		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:150530505_150530506insG	ENST00000271643.4	+	14	2498_2499	c.2262_2263insG	c.(2260-2265)ttggggfs	p.LG754fs	ADAMTSL4_ENST00000369038.2_Frame_Shift_Ins_p.LG754fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Ins_p.LG754fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Ins_p.LG777fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	754	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	p.F754L(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCAGGAATTTGGGGGGGGTGG	0.693													11	115	---	---	---	---					
SETDB1	9869	broad.mit.edu	37	1	150933381	150933382	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:150933381_150933382insC	ENST00000271640.5	+	16	3033_3034	c.2843_2844insC	c.(2842-2844)cccfs	p.P948fs	SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P948fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	948	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGGACTCCCACCCCCCAGATC	0.574													8	613	---	---	---	---					
SELENBP1	8991	broad.mit.edu	37	1	151338280	151338281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:151338280_151338281insG	ENST00000435071.1	-	8	1155_1156	c.693_694insC	c.(691-696)ccagaafs	p.E232fs	SELENBP1_ENST00000368868.5_Frame_Shift_Ins_p.E296fs|SELENBP1_ENST00000447402.3_Frame_Shift_Ins_p.E234fs|SELENBP1_ENST00000426705.2_Frame_Shift_Ins_p.E338fs			Q13228	SBP1_HUMAN	selenium binding protein 1	296					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCACTTTCTTGGGGGGCACCT	0.545													7	514	---	---	---	---					
SPRR2F	6705	broad.mit.edu	37	1	153085120	153085121	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:153085120_153085121insG	ENST00000468739.1	-	2	149_150	c.89_90insC	c.(88-90)caafs	p.Q30fs	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	30	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGACA	0.624													8	907	---	---	---	---					
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:153317810_153317811insC	ENST00000368739.3	-	4	533_534	c.175_176insG	c.(175-177)agafs	p.R59fs	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589													7	943	---	---	---	---					
TMEM79	84283	broad.mit.edu	37	1	156255497	156255498	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156255497_156255498insC	ENST00000405535.2	+	2	651_652	c.480_481insC	c.(478-483)atccccfs	p.IP160fs	TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Frame_Shift_Ins_p.IP160fs|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	160						integral to membrane		p.R163fs*17(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GAACCTTCATGCCCCCCCGGGT	0.658													8	57	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574													7	223	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)ccagaafs	p.E234fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569													13	499	---	---	---	---					
ADAMTS4	9507	broad.mit.edu	37	1	161167945	161167946	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:161167945_161167946insC	ENST00000367996.4	-	1	900_901	c.472_473insG	c.(472-474)tgafs	p.*158fs	ADAMTS4_ENST00000367995.3_Frame_Shift_Ins_p.*158fs	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	158					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.A158fs*2(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTGGAGTTCAGCCCCCCGATAT	0.624													7	172	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2980-2985)acccccfs	p.TP994fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	994	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505													7	763	---	---	---	---					
RNASEL	6041	broad.mit.edu	37	1	182554908	182554909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:182554908_182554909insC	ENST00000367559.3	-	2	1286_1287	c.1033_1034insG	c.(1033-1035)agcfs	p.S345fs	RNASEL_ENST00000444138.1_Frame_Shift_Ins_p.S345fs|RNASEL_ENST00000539397.1_Frame_Shift_Ins_p.S345fs	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	345					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CTTCAGGGCTGCCCCCCAGTGT	0.455													9	332	---	---	---	---					
DHX9	1660	broad.mit.edu	37	1	182852697	182852698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:182852697_182852698insC	ENST00000367549.3	+	26	3297_3298	c.3187_3188insC	c.(3187-3189)cccfs	p.P1063fs	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1063				T -> P (in Ref. 1; AAB48855 and 2; CAA71668).	CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GACTTTAGTCACCCCCCTGCAG	0.441													7	455	---	---	---	---					
KIF21B	23046	broad.mit.edu	37	1	200977975	200977976	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:200977975_200977976insC	ENST00000332129.2	-	3	684_685	c.368_369insG	c.(367-369)gatfs	p.D123fs	KIF21B_ENST00000422435.2_Frame_Shift_Ins_p.D123fs|KIF21B_ENST00000461742.2_Frame_Shift_Ins_p.D123fs|KIF21B_ENST00000360529.5_Frame_Shift_Ins_p.D123fs	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	123	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCTCGGCAATGCCCCCAAAGAG	0.644													7	494	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													17	633	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													8	501	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													14	359	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545													8	805	---	---	---	---					
DYRK3	8444	broad.mit.edu	37	1	206821937	206821938	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:206821937_206821938insG	ENST00000367106.1	+	4	1807_1808	c.1334_1335insG	c.(1333-1335)gggfs	p.G445fs	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Frame_Shift_Ins_p.G465fs|DYRK3_ENST00000367108.3_Frame_Shift_Ins_p.G445fs			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	465	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V430V(1)|p.V465V(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTTGTGCTTGTGGGGGGTCGCT	0.530													9	623	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													11	518	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)tggfs	p.W465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594													19	1128	---	---	---	---					
CAMK1G	57172	broad.mit.edu	37	1	209782336	209782337	+	Frame_Shift_Ins	INS	-	-	C	rs144298174		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:209782336_209782337insC	ENST00000009105.1	+	8	892_893	c.647_648insC	c.(646-648)tccfs	p.S216fs	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Frame_Shift_Ins_p.S216fs			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	216	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTCTGTGGATACCCCCCATTCT	0.510													7	569	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)gacfs	p.D304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACATCGTGGTGCCCCCCGACAT	0.589													9	258	---	---	---	---					
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)cccfs	p.P442fs		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma				9	351	---	---	---	---					
DYSF	8291	broad.mit.edu	37	2	71839796	71839797	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:71839796_71839797insC	ENST00000258104.3	+	39	4470_4471	c.4193_4194insC	c.(4192-4194)tccfs	p.S1398fs	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Frame_Shift_Ins_p.S1430fs|DYSF_ENST00000429174.2_Frame_Shift_Ins_p.S1398fs|DYSF_ENST00000413539.2_Frame_Shift_Ins_p.S1429fs|DYSF_ENST00000410020.3_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000410041.1_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000409744.1_Frame_Shift_Ins_p.S1385fs|DYSF_ENST00000409762.1_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000409582.3_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000409366.1_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000394120.2_Frame_Shift_Ins_p.S1399fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1398						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCTCTACTGCCCCCCCATCA	0.619													19	230	---	---	---	---					
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:74480126_74480127insG	ENST00000394019.2	-	15	1639_1640	c.1242_1243insC	c.(1240-1245)ccagaafs	p.E415fs	SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	415						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCACCTTCTTGGGGGGCTCAA	0.475													7	196	---	---	---	---					
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)ccgcaafs	p.Q919fs	DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559													10	784	---	---	---	---					
SEMA4F	10505	broad.mit.edu	37	2	74906845	74906846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:74906845_74906846insC	ENST00000357877.2	+	14	1971_1972	c.1822_1823insC	c.(1822-1824)cccfs	p.P608fs	SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.P453fs|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	608	Ig-like C2-type.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACTGCACTCACCCCCCGGCGG	0.629													7	266	---	---	---	---					
ANKRD23	200539	broad.mit.edu	37	2	97507820	97507821	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:97507820_97507821insG	ENST00000318357.4	-	3	317_318	c.276_277insC	c.(274-279)ccggaafs	p.E93fs	ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.E93fs|ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.E93fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	93						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACTC	0.530													8	566	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													17	990	---	---	---	---					
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:109539836_109539837insG	ENST00000409271.1	-	6	872_873	c.429_430insC	c.(427-432)ccacacfs	p.H144fs	EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535													8	435	---	---	---	---					
MYO7B	4648	broad.mit.edu	37	2	128383065	128383066	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:128383065_128383066insC	ENST00000389524.4	+	30	4145_4146	c.4092_4093insC	c.(4090-4095)aaccccfs	p.NP1364fs	MYO7B_ENST00000409816.2_Frame_Shift_Ins_p.NP1364fs|MYO7B_ENST00000428314.1_Frame_Shift_Ins_p.NP1364fs|MYO7B_ENST00000409090.1_Frame_Shift_Ins_p.NP217fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1364	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACAGGACCAAGCCCCCAGACAG	0.678													8	1106	---	---	---	---					
WDR33	55339	broad.mit.edu	37	2	128467384	128467385	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:128467384_128467385insG	ENST00000322313.4	-	19	3512_3513	c.3354_3355insC	c.(3352-3357)ccgaggfs	p.R1119fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1119					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCCTTCCTCTGGGGGGAGCAC	0.545													9	500	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)accfs	p.T267fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609													8	112	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													17	359	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													17	449	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													7	145	---	---	---	---					
CRYGA	1418	broad.mit.edu	37	2	209025576	209025577	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:209025576_209025577insC	ENST00000304502.4	-	3	495_496	c.476_477insG	c.(475-477)ggcfs	p.G159fs		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		TGGCATCTGCACCCCCCCAGTC	0.530													8	138	---	---	---	---					
RNF25	64320	broad.mit.edu	37	2	219529513	219529514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:219529513_219529514insC	ENST00000295704.2	-	9	1189_1190	c.749_750insG	c.(748-750)gatfs	p.D250fs		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	250					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	p.I251fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAATGATTCCCCCCCGCTC	0.564													13	313	---	---	---	---					
CCDC108	255101	broad.mit.edu	37	2	219883882	219883883	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:219883882_219883883insG	ENST00000341552.5	-	21	3575_3576	c.3492_3493insC	c.(3490-3495)cctcctfs	p.P1165fs	CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.P1165fs|CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.P1165fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1165						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTGAGGACGGGGGGGATCT	0.614													7	88	---	---	---	---					
DIS3L2	129563	broad.mit.edu	37	2	233128030	233128031	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:233128030_233128031insC	ENST00000325385.7	+	13	1815_1816	c.1539_1540insC	c.(1537-1542)ctccccfs	p.LP513fs	DIS3L2_ENST00000273009.6_Frame_Shift_Ins_p.LP513fs|DIS3L2_ENST00000409307.1_Frame_Shift_Ins_p.LP513fs	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	513							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGAAAGAGCTGCCCCCCATTTC	0.559													10	387	---	---	---	---					
DGKD	8527	broad.mit.edu	37	2	234357832	234357833	+	Frame_Shift_Ins	INS	-	-	C	rs138076232		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:234357832_234357833insC	ENST00000264057.2	+	15	1710_1711	c.1698_1699insC	c.(1696-1701)ccccccfs	p.PP566fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.PP522fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	566					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGCCCAACCCGCCCCCCACCAT	0.614													7	415	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													9	264	---	---	---	---					
SATB1	6304	broad.mit.edu	37	3	18427922	18427923	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:18427922_18427923insG	ENST00000338745.6	-	8	3121_3122	c.1387_1388insC	c.(1387-1389)catfs	p.H463fs	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Frame_Shift_Ins_p.H463fs|SATB1_ENST00000454909.2_Frame_Shift_Ins_p.H463fs	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	463					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGTGCTGATGAGGGGGGCAGGA	0.515													7	423	---	---	---	---					
VPRBP	9730	broad.mit.edu	37	3	51457614	51457615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:51457614_51457615insG	ENST00000335891.5	-	7	1471_1472	c.1462_1463insC	c.(1462-1464)gggfs	p.G488fs				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	937					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TAGCGGACCCTGGGGGGGCCGT	0.589													7	127	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													16	478	---	---	---	---					
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:63981831_63981832insC	ENST00000398590.3	+	12	2886_2887	c.2333_2334insC	c.(2332-2334)gccfs	p.A778fs	ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.A633fs|ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	778	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGAGGGGCCCCCCCACCG	0.545													9	125	---	---	---	---					
WDR5B	54554	broad.mit.edu	37	3	122133489	122133489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:122133489delT	ENST00000330689.4	-	1	1393	c.887delA	c.(886-888)ctfs	p.H296fs		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	296										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		AACATCTGTATGGCCTTGTAA	0.408													20	395	---	---	---	---					
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)cccfs	p.P384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2.|Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604													9	261	---	---	---	---					
SLC12A8	84561	broad.mit.edu	37	3	124810981	124810982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:124810981_124810982insT	ENST00000423114.2	-	11	1852_1853	c.1853_1854insA	c.(1852-1854)tacfs	p.Y618fs	SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Frame_Shift_Ins_p.Y390fs|SLC12A8_ENST00000469902.1_Frame_Shift_Ins_p.Y589fs|SLC12A8_ENST00000393469.4_Frame_Shift_Ins_p.Y589fs|SLC12A8_ENST00000314584.7_Intron			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	589					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						ACATGTGGGTATAGAAAGAAGT	0.450													37	118	---	---	---	---					
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(310-315)gaggggfs	p.EG104fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	104					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569													8	149	---	---	---	---					
LOC100507291	100507291	broad.mit.edu	37	3	139212981	139212982	+	RNA	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:139212981_139212982insC	ENST00000515247.1	+	0	317																											GATGACCAAGGCCCCCCCTTGT	0.530													7	73	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													14	786	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	150877785	150877786	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:150877785_150877786insC	ENST00000474524.1	+	7	1042_1043	c.1004_1005insC	c.(1003-1005)gccfs	p.A335fs	MED12L_ENST00000422248.2_Frame_Shift_Ins_p.A335fs|MED12L_ENST00000309237.4_Frame_Shift_Ins_p.A335fs|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)			CCCAGCCCTGGCCCCCCCGGCC	0.584													10	126	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)catfs	p.H253fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTAGGATGGCCCCCCGCAAG	0.515													10	310	---	---	---	---					
FETUB	26998	broad.mit.edu	37	3	186370136	186370137	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:186370136_186370137insC	ENST00000265029.3	+	7	966_967	c.865_866insC	c.(865-867)cccfs	p.P289fs	RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_Frame_Shift_Ins_p.P141fs|FETUB_ENST00000382136.3_Frame_Shift_Ins_p.P252fs|FETUB_ENST00000382134.3_Frame_Shift_Ins_p.P224fs|FETUB_ENST00000450521.1_Frame_Shift_Ins_p.P289fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	289						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCAGAAAAACACCCCCCCAACA	0.495													20	291	---	---	---	---					
SLC51A	200931	broad.mit.edu	37	3	195955037	195955038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:195955037_195955038insG	ENST00000296327.5	+	5	623_624	c.414_415insG	c.(412-417)ttggggfs	p.LG138fs		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		TGGAAGGCTTTGGGGGGAAGGA	0.614													13	889	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-684)gccfs	p.A228fs	FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525													8	464	---	---	---	---					
ZBTB49	166793	broad.mit.edu	37	4	4304018	4304019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:4304018_4304019insC	ENST00000337872.4	+	3	576_577	c.455_456insC	c.(454-456)tccfs	p.S152fs	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Frame_Shift_Ins_p.S152fs	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGTGAAAACTACCCCCCTCATT	0.470													7	748	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)catfs	p.H464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515													8	410	---	---	---	---					
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:38691475_38691476insC	ENST00000261438.5	+	4	975_976	c.670_671insC	c.(670-672)cccfs	p.P224fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426													13	239	---	---	---	---					
WDFY3	23001	broad.mit.edu	37	4	85611708	85611709	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:85611708_85611709delCA	ENST00000322366.6	-	60	9669_9670	c.9262_9263delTG	c.(9262-9264)gfs	p.W3088fs	WDFY3_ENST00000295888.4_Frame_Shift_Del_p.W3105fs			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3105						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCCATCTCCCACACACACACA	0.510													7	564	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													22	838	---	---	---	---					
C4orf17	84103	broad.mit.edu	37	4	100443777	100443778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:100443777_100443778insC	ENST00000514652.1	+	3	602_603	c.248_249insC	c.(247-249)tccfs	p.S83fs	C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S83fs|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	83										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AATTGCAGTTACCCCTCCAGCA	0.500													16	312	---	---	---	---					
EGF	1950	broad.mit.edu	37	4	110909773	110909774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:110909773_110909774insC	ENST00000265171.5	+	18	3087_3088	c.2642_2643insC	c.(2641-2643)tccfs	p.S881fs	EGF_ENST00000503392.1_Frame_Shift_Ins_p.S881fs|EGF_ENST00000509793.1_Frame_Shift_Ins_p.S839fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	881	EGF-like 7; calcium-binding (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GTCCCAGTGTGCCCCCCTGCCT	0.470													12	876	---	---	---	---					
FAT4	79633	broad.mit.edu	37	4	126329664	126329665	+	Frame_Shift_Ins	INS	-	-	ATTT			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:126329664_126329665insATTT	ENST00000394329.3	+	4	5648_5649	c.5635_5636insATTT	c.(5635-5637)tgtfs	p.C1879fs	FAT4_ENST00000335110.5_Frame_Shift_Ins_p.C177fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1879	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTACATATATTGTGAATGAA	0.322													31	129	---	---	---	---					
KIAA0922	23240	broad.mit.edu	37	4	154523863	154523863	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:154523863delA	ENST00000409959.3	+	23	2672	c.2623delA	c.(2623-2625)cgfs	p.T875fs	KIAA0922_ENST00000409663.3_Frame_Shift_Del_p.T874fs|KIAA0922_ENST00000440693.1_Frame_Shift_Del_p.T791fs	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	874						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTGGAGGCTCACGGTCTTCTT	0.507													131	261	---	---	---	---					
RNF175	285533	broad.mit.edu	37	4	154636583	154636583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:154636583delT	ENST00000274068.4	-	6	854	c.478delA	c.(478-480)ccfs	p.T160fs	RNF175_ENST00000347063.4_Intron			Q8N4F7	RN175_HUMAN	ring finger protein 175	0						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GCATGGAAGGTAAGCAAGATG	0.488													2	4	---	---	---	---					
TENM3	55714	broad.mit.edu	37	4	183713572	183713573	+	Frame_Shift_Ins	INS	-	-	C	rs80197208	by1000genomes	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:183713572_183713573insC	ENST00000511685.1	+	26	5870_5871	c.5747_5748insC	c.(5746-5748)accfs	p.T1916fs	TENM3_ENST00000406950.2_Frame_Shift_Ins_p.T1916fs					teneurin transmembrane protein 3									p.E1919fs*37(1)									AACATATACAACCCCCCGGAAA	0.530													7	200	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:186515043_186515044insC	ENST00000431808.1	-	20	3693_3694	c.3130_3131insG	c.(3130-3132)accfs	p.T1044fs	SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356													11	199	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													15	342	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													7	130	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													22	330	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													7	420	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													7	757	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:133473764_133473765insC	ENST00000395029.1	+	4	651_652	c.456_457insC	c.(454-459)caccccfs	p.HP152fs	TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	152					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574													14	492	---	---	---	---					
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(991-996)acccccfs	p.TP331fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	331					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649													7	131	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													7	849	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													16	368	---	---	---	---					
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs144353509		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:141694153_141694154insG	ENST00000344120.4	-	3	775_776	c.589_590insC	c.(589-591)gacfs	p.D197fs	SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGCA	0.609									Testicular Cancer, Familial Clustering of				7	581	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)gaafs	p.E613fs	LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.450													8	849	---	---	---	---					
CSF1R	1436	broad.mit.edu	37	5	149460475	149460476	+	Frame_Shift_Ins	INS	-	-	G	rs139516059		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:149460475_149460476insG	ENST00000286301.3	-	3	452_453	c.161_162insC	c.(160-162)ctcfs	p.L54fs	CSF1R_ENST00000543093.1_Frame_Shift_Ins_p.L54fs	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	54	Ig-like C2-type 1.			P -> A (in Ref. 2; CAA27300).	cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGTGAGGTGATGGGGGGCCATC	0.594													9	256	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150905451	150905452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:150905451_150905452insG	ENST00000261800.5	-	17	10395_10396	c.10383_10384insC	c.(10381-10386)ccactcfs	p.L3462fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3462	Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAAACGAGTAGGGGGGGCCAT	0.584													8	186	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1738-1743)ccggggfs	p.PG580fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	657							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.550													14	393	---	---	---	---					
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)gggfs	p.G212fs	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	147	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)cctfs	p.P526fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515													15	1078	---	---	---	---					
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)ccagatfs	p.D274fs	KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	274							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579													10	847	---	---	---	---					
TRIM7	81786	broad.mit.edu	37	5	180630518	180630519	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:180630518_180630519insG	ENST00000334421.5	-	2	826_827	c.644_645insC	c.(643-645)ctgfs	p.L215fs	TRIM7_ENST00000361809.3_Intron|TRIM7_ENST00000274773.7_Intron|TRIM7_ENST00000422067.2_5'UTR|TRIM7_ENST00000393315.1_Intron	NM_033342.2	NP_203128.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	0						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TAATGTCCCACGGGGGGCCTGC	0.559													8	383	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													16	603	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													25	286	---	---	---	---					
HIVEP1	3096	broad.mit.edu	37	6	12121132	12121133	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:12121132_12121133insC	ENST00000379388.2	+	4	1436_1437	c.1104_1105insC	c.(1102-1107)tcccccfs	p.SP368fs		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	368					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTACACAGTCGCCCCCCATGCC	0.421													7	607	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(307-312)ctccccfs	p.LP103fs	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	237						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584													7	340	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													18	247	---	---	---	---					
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:17837307_17837308insC	ENST00000378814.5	-	11	955_956	c.956_957insG	c.(955-957)gaafs	p.E319fs	KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.450													7	260	---	---	---	---					
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	86					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485													11	245	---	---	---	---					
KIAA0319	9856	broad.mit.edu	37	6	24601319	24601320	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:24601319_24601320insG	ENST00000378214.3	-	2	536_537	c.12_13insC	c.(10-15)cccaggfs	p.R5fs	KIAA0319_ENST00000543707.1_Frame_Shift_Ins_p.R5fs|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000535378.1_5'UTR|KIAA0319_ENST00000537886.1_Frame_Shift_Ins_p.R5fs	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	5					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGCACACCTGTGGGGGGCGCCA	0.525													8	428	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													13	460	---	---	---	---					
DDX39B	7919	broad.mit.edu	37	6	31504445	31504446	+	Frame_Shift_Ins	INS	-	-	A	rs75750725		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:31504445_31504446insA	ENST00000417556.2	-	6	1122_1123	c.492_493insT	c.(490-495)ttgtggfs	p.LW164fs	DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.LW149fs|DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.LW71fs|DDX39B_ENST00000396172.1_Frame_Shift_Ins_p.LW149fs|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.LW102fs|DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.LW149fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000449074.2_3'UTR			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	149	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GACAGACCACCAAAAAAAACAG	0.510													9	335	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:31608570_31608571insG	ENST00000404765.2	-	21	3221_3222	c.2934_splice	c.e21+1	p.A978_splice	BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535													12	381	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31617054	31617055	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:31617054_31617055insG	ENST00000404765.2	-	4	633_634	c.344_345insC	c.(343-345)cggfs	p.R115fs	BAG6_ENST00000439687.2_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.R115fs			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	115					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.P115fs*53(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCCGAGTACCAGGGGGGGATCC	0.594													7	229	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													16	264	---	---	---	---					
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gctfs	p.A158fs		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CTCTATGAGCTCCCCCCAAGTT	0.589													9	265	---	---	---	---					
STK38	11329	broad.mit.edu	37	6	36463592	36463593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:36463592_36463593insC	ENST00000229812.7	-	14	1651_1652	c.1366_1367insG	c.(1366-1368)aatfs	p.N456fs		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	456					intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAAGGTATTGCCCCCCTTGCA	0.455													7	524	---	---	---	---					
MOCS1	4337	broad.mit.edu	37	6	39874149	39874150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:39874149_39874150insC	ENST00000308559.7	-	10	1979_1980	c.1846_1847insG	c.(1846-1848)cttfs	p.L616fs	MOCS1_ENST00000373195.3_Frame_Shift_Ins_p.L529fs|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000340692.5_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373186.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	632	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCGATGGAAGTCCCCCCGCTGA	0.579													19	2286	---	---	---	---					
LRFN2	57497	broad.mit.edu	37	6	40399587	40399588	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:40399587_40399588insG	ENST00000338305.6	-	2	1807_1808	c.1265_1266insC	c.(1264-1266)cgafs	p.R422fs		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	422	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCCCGTTCCGGGGGGCTTTT	0.639													16	655	---	---	---	---					
GLTSCR1L	23506	broad.mit.edu	37	6	42819857	42819858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42819857_42819858insC	ENST00000314073.5	+	7	2043_2044	c.1867_1868insC	c.(1867-1869)cccfs	p.P623fs	GLTSCR1L_ENST00000394168.1_Frame_Shift_Ins_p.P623fs					GLTSCR1-like																		GAATCAGACTTCCCCCATTTCT	0.441													9	1693	---	---	---	---					
PEX6	5190	broad.mit.edu	37	6	42936675	42936676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42936675_42936676insG	ENST00000304611.8	-	6	1484_1485	c.1415_1416insC	c.(1414-1416)cggfs	p.R472fs	PEX6_ENST00000244546.4_Frame_Shift_Ins_p.R472fs	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	472					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCCCACAGCCTGGGGGGCCCCG	0.550													9	1099	---	---	---	---					
PPP2R5D	5528	broad.mit.edu	37	6	42974287	42974288	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42974287_42974288insC	ENST00000485511.1	+	3	371_372	c.192_193insC	c.(190-195)ccccccfs	p.PP64fs	PPP2R5D_ENST00000394110.3_Frame_Shift_Ins_p.PP64fs|PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000472118.1_Frame_Shift_Ins_p.PP56fs	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	64					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATAGCACGCCGCCCCCCACGCA	0.624													9	882	---	---	---	---					
POLH	5429	broad.mit.edu	37	6	43581803	43581804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:43581803_43581804insC	ENST00000372236.4	+	11	1946_1947	c.1651_1652insC	c.(1651-1653)cccfs	p.P551fs	POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Frame_Shift_Ins_p.P489fs	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	551					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TTCAGTTTCTTCCCCCCAACAA	0.421								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				9	711	---	---	---	---					
ENPP4	22875	broad.mit.edu	37	6	46108939	46108940	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:46108939_46108940insA	ENST00000321037.4	+	3	1207_1208	c.977_978insA	c.(976-978)caafs	p.Q326fs		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	326						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ACAATTGTGCTAAATGAATCAT	0.337													124	67	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(358-363)tgttttfs	p.CF120fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	120					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAGACCTGGTTTTTTGGACA	0.431													11	2288	---	---	---	---					
SNX14	57231	broad.mit.edu	37	6	86223568	86223568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:86223568delT	ENST00000314673.3	-	26	2779	c.2603delA	c.(2602-2604)agfs	p.K868fs	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Frame_Shift_Del_p.K587fs|SNX14_ENST00000369627.2_Frame_Shift_Del_p.K859fs|SNX14_ENST00000346348.3_Frame_Shift_Del_p.K815fs|SNX14_ENST00000505648.1_Frame_Shift_Del_p.K816fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	868					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCCTTTTTGCTTATCTTGGAG	0.303													16	5	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:87725846_87725847insC	ENST00000305344.4	+	2	1497_1498	c.794_795insC	c.(793-795)accfs	p.T265fs	HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510													15	351	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													11	356	---	---	---	---					
ENPP3	5169	broad.mit.edu	37	6	132006590	132006591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:132006590_132006591insC	ENST00000414305.1	+	14	1535_1536	c.1207_1208insC	c.(1207-1209)cccfs	p.P403fs	ENPP3_ENST00000357639.3_Frame_Shift_Ins_p.P403fs|ENPP3_ENST00000358229.5_Frame_Shift_Ins_p.P403fs			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	403	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGAAGGGCCTGCCCCCCGCATC	0.361													7	123	---	---	---	---					
TCF21	6943	broad.mit.edu	37	6	134210862	134210863	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:134210862_134210863insC	ENST00000367882.4	+	1	587_588	c.327_328insC	c.(325-330)gtccccfs	p.VP109fs	TCF21_ENST00000237316.3_Frame_Shift_Ins_p.VP109fs|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	109	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TGCCCTGGGTGCCCCCCGACAC	0.644													12	251	---	---	---	---					
SDK1	221935	broad.mit.edu	37	7	4245587	4245588	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:4245587_4245588insC	ENST00000404826.2	+	36	5314_5315	c.5175_5176insC	c.(5173-5178)ccccccfs	p.PP1725fs	SDK1_ENST00000389531.3_Frame_Shift_Ins_p.PP1705fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1725	Fibronectin type-III 11.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGACCCACCACCCCCGGAGAG	0.668													4	6	---	---	---	---					
RBAK	57786	broad.mit.edu	37	7	5104048	5104050	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:5104048_5104050delGAA	ENST00000396912.1	+	5	1480_1482	c.961_963delGAA	c.(961-963)del	p.E321del	RBAK_ENST00000353796.3_In_Frame_Del_p.E321del|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	321					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TAAATGTAATGAATGTGGGAAAA	0.419													10	221	---	---	---	---					
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:13975472_13975473insG	ENST00000343495.5	-	7	1098_1099	c.360_361insC	c.(358-363)cccaccfs	p.T121fs	ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs			P50549	ETV1_HUMAN	ets variant 1	139					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTGG	0.530			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								10	366	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													11	174	---	---	---	---					
GUSB	2990	broad.mit.edu	37	7	65429390	65429396	+	Frame_Shift_Del	DEL	TGGTACT	TGGTACT	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:65429390_65429396delTGGTACT	ENST00000304895.4	-	11	1833_1839	c.1703_1709delAGTACCA	c.(1702-1710)ctfs	p.QYH568fs	GUSB_ENST00000345660.6_Frame_Shift_Del_p.QYH517fs|GUSB_ENST00000421103.1_Frame_Shift_Del_p.QYH422fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	568					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGACCCAGATGGTACTGCTCTAGCAG	0.435													10	79	---	---	---	---					
PON3	5446	broad.mit.edu	37	7	94993290	94993291	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:94993290_94993291insA	ENST00000265627.5	-	6	589_590	c.579_580insT	c.(577-582)ttagatfs	p.LD193fs	PON3_ENST00000427422.1_Frame_Shift_Ins_p.LD193fs|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGATCATCTCAAAAAATGACA	0.441													9	1433	---	---	---	---					
TRRAP	8295	broad.mit.edu	37	7	98550874	98550875	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:98550874_98550875insC	ENST00000359863.4	+	39	5736_5737	c.5527_5528insC	c.(5527-5529)cccfs	p.P1843fs	TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P1824fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P1825fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1843					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.A1843T(1)|p.A1825T(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGGAGCACGCCCCCCACCAC	0.644													7	494	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													19	650	---	---	---	---					
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)caafs	p.Q487fs	ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.480													9	3138	---	---	---	---					
AGFG2	3268	broad.mit.edu	37	7	100150975	100150976	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:100150975_100150976insC	ENST00000300176.4	+	4	559_560	c.437_438insC	c.(436-438)gccfs	p.A146fs	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	146	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAAAGGTATGTCCCCCCAGACC	0.515													7	371	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1167)tccfs	p.S389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.510													35	732	---	---	---	---					
SLC12A9	56996	broad.mit.edu	37	7	100459489	100459490	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:100459489_100459490insG	ENST00000354161.3	+	12	1792_1793	c.1667_1668insG	c.(1666-1668)aggfs	p.R556fs	SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.R467fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.R556fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.R556fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.R467fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	556						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGCTTAAGAAGGGGGGGCTGT	0.644													7	105	---	---	---	---					
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:100856125_100856126insC	ENST00000223127.3	-	8	1274_1275	c.876_877insG	c.(874-879)ggagccfs	p.A293fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	293					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCACCTGCCCCCCCGGGA	0.673													11	140	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3379-3384)aaccccfs	p.NP1127fs	CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.520													10	1491	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													9	596	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													10	572	---	---	---	---					
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3835-3840)atggggfs	p.MG1279fs	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1279					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446													9	634	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													20	1074	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18725321	18725322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:18725321_18725322insC	ENST00000440756.2	-	4	1598_1599	c.1496_1497insG	c.(1495-1497)gggfs	p.G499fs	PSD3_ENST00000327040.8_Frame_Shift_Ins_p.G499fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.G434fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	499					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCTGATGTCCTCCCCCTGATGT	0.495													8	1600	---	---	---	---					
ADRA1A	148	broad.mit.edu	37	8	26722382	26722383	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:26722382_26722383insC	ENST00000380573.3	-	2	1127_1128	c.104_105insG	c.(103-105)gctfs	p.A35fs	ADRA1A_ENST00000380587.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000276393.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380582.3_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000358857.5_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000354550.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380586.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380572.3_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000519229.1_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380581.2_Frame_Shift_Ins_p.A35fs			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	35					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AAAGAATGAGGCCCCCCAAGAT	0.569													7	270	---	---	---	---					
FBXO16	157574	broad.mit.edu	37	8	28340937	28340938	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:28340937_28340938insT	ENST00000380254.2	-	2	174_175	c.26_27insA	c.(25-27)aacfs	p.N9fs	FBXO16_ENST00000518734.1_Frame_Shift_Ins_p.N9fs|FBXO16_ENST00000517436.1_Intron|FBXO16_ENST00000519471.2_Frame_Shift_Ins_p.N9fs|FBXO16_ENST00000346498.2_Frame_Shift_Ins_p.N9fs	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	9										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GACCATCTGTGTTTTTTGGAGG	0.396													7	747	---	---	---	---					
UNC5D	137970	broad.mit.edu	37	8	35584019	35584020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:35584019_35584020insG	ENST00000287272.2	+	9	1466_1467	c.1446_1447insG	c.(1444-1449)ttggggfs	p.LG482fs	UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.LG546fs|UNC5D_ENST00000404895.2_Frame_Shift_Ins_p.LG551fs|UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.LG484fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.LG127fs|UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.LG556fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	551					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGGCCATTTAGGGGGGCGCTT	0.411													12	900	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480396	73480397	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:73480396_73480397insA	ENST00000523207.1	+	2	1015_1016	c.427_428insA	c.(427-429)aaafs	p.K143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q143K(1)|p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGATATCATCAAAAAAAAGAA	0.446													7	517	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77617546	77617547	+	Frame_Shift_Ins	INS	-	-	G	rs13252403		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:77617546_77617547insG	ENST00000521891.2	+	2	1671_1672	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	408						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)			9	89	---	---	---	---					
POP1	10940	broad.mit.edu	37	8	99168467	99168468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:99168467_99168468insA	ENST00000401707.2	+	15	2328_2329	c.2247_2248insA	c.(2245-2250)ccaaaafs	p.PK749fs	POP1_ENST00000349693.3_Frame_Shift_Ins_p.PK749fs	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	749					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTCCCATGCCTAAAAAAACTCA	0.510													7	1028	---	---	---	---					
UBR5	51366	broad.mit.edu	37	8	103341320	103341324	+	Frame_Shift_Del	DEL	TGTTA	TGTTA	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:103341320_103341324delTGTTA	ENST00000520539.1	-	11	1926_1930	c.1320_1324delTAACA	c.(1318-1326)aaagfs	p.NNK440fs	UBR5_ENST00000220959.4_Frame_Shift_Del_p.NNK440fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.NNK434fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	440					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTTCATACCTTGTTATTTTCTGTAG	0.327													115	269	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142477454	142477463	+	RNA	DEL	CCTGGCCCTT	CCTGGCCCTT	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:142477454_142477463delCCTGGCCCTT	ENST00000430863.1	-	0	2403					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CCCTCCGCCCcctggcccttcctggccctt	0.671													4	4	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:14823286_14823287insG	ENST00000380881.4	-	14	3026_3027	c.2211_2212insC	c.(2209-2214)cctgcafs	p.A738fs	FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441													15	1768	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14848680	14848681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:14848680_14848681insG	ENST00000380881.4	-	8	2061_2062	c.1246_1247insC	c.(1246-1248)tgtfs	p.C416fs	FREM1_ENST00000422223.2_Frame_Shift_Ins_p.C415fs|FREM1_ENST00000380880.3_Frame_Shift_Ins_p.C415fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	415					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGGATACACGGGGGGCATTT	0.426													7	396	---	---	---	---					
AQP7	364	broad.mit.edu	37	9	33385689	33385690	+	Frame_Shift_Ins	INS	-	-	G	rs3215969	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:33385689_33385690insG	ENST00000537089.1	-	6	742_743	c.424_425insC	c.(424-426)catfs	p.H142fs	AQP7_ENST00000539936.1_Frame_Shift_Ins_p.H234fs|AQP7_ENST00000377425.4_Frame_Shift_Ins_p.H177fs|AQP7_ENST00000541274.1_Frame_Shift_Ins_p.P102fs			O14520	AQP7_HUMAN	aquaporin 7	234					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	p.R234fs*35(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGTGAAGATGCGGGGGGGCAGG	0.579													9	477	---	---	---	---					
UBAP1	51271	broad.mit.edu	37	9	34241784	34241785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:34241784_34241785insC	ENST00000536252.1	+	5	1159_1160	c.761_762insC	c.(760-762)cccfs	p.P254fs	UBAP1_ENST00000379186.4_Frame_Shift_Ins_p.P254fs|UBAP1_ENST00000297661.4_Frame_Shift_Ins_p.P254fs|UBAP1_ENST00000545103.1_Frame_Shift_Ins_p.P318fs|UBAP1_ENST00000540348.1_Frame_Shift_Ins_p.P254fs|UBAP1_ENST00000543944.1_Frame_Shift_Ins_p.P290fs|UBAP1_ENST00000359544.2_Frame_Shift_Ins_p.P254fs	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	254						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AAAGTGTCCCTCCCCCCTATAC	0.465													8	157	---	---	---	---					
FAM219A	203259	broad.mit.edu	37	9	34401027	34401028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:34401027_34401028insG	ENST00000445726.1	-	6	798_799	c.492_493insC	c.(490-495)ccagtcfs	p.V165fs	FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN	family with sequence similarity 219, member A	165																	TTCACGGACTTGGGGGGGATGA	0.644													11	148	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccttcfs	p.F788fs	PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604													17	304	---	---	---	---					
CCIN	881	broad.mit.edu	37	9	36170618	36170619	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:36170618_36170619insG	ENST00000335119.2	+	1	1230_1231	c.1119_1120insG	c.(1117-1122)tgggggfs	p.WG373fs		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	373					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TGGTGACCTGTGGGGGGACAGT	0.584													8	533	---	---	---	---					
ZBTB5	9925	broad.mit.edu	37	9	37442161	37442162	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:37442161_37442162insG	ENST00000307750.4	-	2	575_576	c.387_388insC	c.(385-390)ccgtgafs	p.*130fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACGCGCTCACTGGGGGGAGACA	0.525													10	928	---	---	---	---					
PCSK5	5125	broad.mit.edu	37	9	78686773	78686774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:78686773_78686774insC	ENST00000545128.1	+	7	1391_1392	c.853_854insC	c.(853-855)cccfs	p.P285fs	PCSK5_ENST00000376752.4_Frame_Shift_Ins_p.P285fs|PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.P285fs	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	285	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGACGGACCAGCCCCCCTCACC	0.515													14	1003	---	---	---	---					
PTCH1	5727	broad.mit.edu	37	9	98211548	98211549	+	Frame_Shift_Ins	INS	-	-	G	rs138240178	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:98211548_98211549insG	ENST00000430669.2	-	22	3993_3994	c.3408_3409insC	c.(3406-3411)ccgcgtfs	p.R1137fs	PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.R1137fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000331920.6_Frame_Shift_Ins_p.R1203fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.R1202fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.R1052fs			Q13635	PTC1_HUMAN	patched 1	1203					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.S1203fs*52(2)|p.S1202fs*52(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGGACCACGCTGGGGGGTGGCT	0.594													2	4	---	---	---	---					
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:100082417_100082418insC	ENST00000375202.2	+	25	2573_2574	c.1221_1222insC	c.(1219-1224)ctccccfs	p.LP407fs	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs					coiled-coil domain containing 180																		GTGACCTCCTGCCCCCCAGTTA	0.505													14	718	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													12	292	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.550													7	398	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													22	1049	---	---	---	---					
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)cccfs	p.P1376fs	NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								7	248	---	---	---	---					
SEC16A	9919	broad.mit.edu	37	9	139345822	139345823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr9:139345822_139345823insG	ENST00000313050.7	-	21	6270_6271	c.6197_6198insC	c.(6196-6198)cggfs	p.R2066fs	SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000371706.3_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.R1888fs	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1888	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GATCCCACCCTGGGGGGGCCTC	0.629													7	44	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1453-1458)atccccfs	p.IP485fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	485					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.490													7	315	---	---	---	---					
PIP4K2A	5305	broad.mit.edu	37	10	22830827	22830828	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:22830827_22830828insG	ENST00000376573.4	-	8	1169_1170	c.941_942insC	c.(940-942)cgafs	p.R314fs	PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.R255fs|PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.R174fs	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	314	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTCC	0.584													10	145	---	---	---	---					
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:51586311_51586312insC	ENST00000452682.1	+	10	2039_2040	c.1787_1788insC	c.(1786-1788)tccfs	p.S596fs	NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid								8	182	---	---	---	---					
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)gggfs	p.G233fs		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CGAGGACCTGTGGGGGGAGCCC	0.604													14	1042	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													27	690	---	---	---	---					
NDST2	8509	broad.mit.edu	37	10	75563405	75563406	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:75563405_75563406insC	ENST00000299641.4	-	12	2669_2670	c.1699_1700insG	c.(1699-1701)tgcfs	p.C567fs	NDST2_ENST00000309979.6_Frame_Shift_Ins_p.C690fs	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	690	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CAGGAGGGCAGCCCCCCGCCGT	0.540													9	377	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81072445	81072446	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:81072445_81072446insC	ENST00000334512.5	+	25	3715_3716	c.3143_3144insC	c.(3142-3144)gccfs	p.A1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Ins_p.A114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCTTATCTGGACCCCCCCGACC	0.559													10	184	---	---	---	---					
ZFYVE27	118813	broad.mit.edu	37	10	99510176	99510177	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:99510176_99510177insG	ENST00000393677.4	+	7	957_958	c.753_754insG	c.(751-756)gtggggfs	p.VG251fs	ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.VG219fs|ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.VG165fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.VG153fs|ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.VG133fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	251					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CACCAGATGTTGGGGGGAAGGA	0.599													11	685	---	---	---	---					
HPSE2	60495	broad.mit.edu	37	10	100995502	100995503	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:100995502_100995503insG	ENST00000370552.3	-	1	116_117	c.57_58insC	c.(55-60)cccgtgfs	p.V20fs	HPSE2_ENST00000404542.1_Frame_Shift_Ins_p.V20fs|HPSE2_ENST00000370546.1_Frame_Shift_Ins_p.V20fs|HPSE2_ENST00000370549.1_Frame_Shift_Ins_p.V20fs	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	20					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GCTAGGCACGCGGGGGGGCGGG	0.594													8	70	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													13	1010	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)ccaatgfs	p.M382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.490													7	1394	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265254	102265255	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:102265254_102265255insG	ENST00000370345.3	-	10	1142		c.e10-2		SEC31B_ENST00000451524.1_Splice_Site	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGAGGAGATCTGGGGGGAAAAG	0.530													8	310	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													16	287	---	---	---	---					
PPRC1	23082	broad.mit.edu	37	10	103906659	103906660	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:103906659_103906660insC	ENST00000278070.2	+	9	3949_3950	c.3910_3911insC	c.(3910-3912)cccfs	p.P1304fs	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.P271fs|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCGGAGCAGGACCCCCCCAAAA	0.569													7	132	---	---	---	---					
PDCD11	22984	broad.mit.edu	37	10	105176292	105176293	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:105176292_105176293insA	ENST00000369797.3	+	13	1657_1658	c.1563_1564insA	c.(1561-1566)ctaaaafs	p.LK521fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	521	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGATGACCCTGAAAAAAACCCT	0.485											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	557	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													7	159	---	---	---	---					
TRIM21	6737	broad.mit.edu	37	11	4409704	4409705	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:4409704_4409705insT	ENST00000254436.7	-	4	672_673	c.560_561insA	c.(559-561)attfs	p.I187fs	TRIM21_ENST00000543625.1_Frame_Shift_Ins_p.I187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CAACCAGGAAGTTTTTTTGCTG	0.485													7	1223	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													28	1474	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)cctfs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604													7	564	---	---	---	---					
ARNTL	406	broad.mit.edu	37	11	13398236	13398237	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:13398236_13398237insC	ENST00000389708.3	+	16	1825_1826	c.1470_1471insC	c.(1468-1473)caccccfs	p.HP490fs	ARNTL_ENST00000401424.1_Frame_Shift_Ins_p.P416fs|ARNTL_ENST00000403290.1_Frame_Shift_Ins_p.P459fs|ARNTL_ENST00000403510.3_Frame_Shift_Ins_p.P415fs|ARNTL_ENST00000361003.4_Frame_Shift_Ins_p.P341fs|ARNTL_ENST00000403482.3_Frame_Shift_Ins_p.P457fs|ARNTL_ENST00000396441.3_Frame_Shift_Ins_p.P458fs|ARNTL_ENST00000389707.4_Frame_Shift_Ins_p.P458fs			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	0					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GCTCACAGCATCCCCCCACAGC	0.584													9	668	---	---	---	---					
SAAL1	113174	broad.mit.edu	37	11	18124827	18124828	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:18124827_18124828insT	ENST00000524803.1	-	2	250_251	c.201_202insA	c.(199-204)gaaaatfs	p.N68fs	SAAL1_ENST00000529318.1_Frame_Shift_Ins_p.N68fs|SAAL1_ENST00000300013.4_Frame_Shift_Ins_p.N68fs|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	68					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						TTCTCCATTTCTTCATCAAGCT	0.401													187	402	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													10	554	---	---	---	---					
MAPK8IP1	9479	broad.mit.edu	37	11	45923969	45923970	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:45923969_45923970insC	ENST00000395629.2	+	5	951_952	c.621_622insC	c.(619-624)ctccccfs	p.LP207fs	MAPK8IP1_ENST00000241014.2_Frame_Shift_Ins_p.LP217fs			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	217	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GCGATGAGCTGCCCCCCCAGAG	0.678													3	6	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)gctfs	p.A1835fs	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564													9	222	---	---	---	---					
C11orf49	79096	broad.mit.edu	37	11	47074000	47074001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:47074000_47074001insC	ENST00000395460.2	+	3	249_250	c.211_212insC	c.(211-213)cccfs	p.P71fs	C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000543718.1_Intron	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	71										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAAT	0.441													9	427	---	---	---	---					
NR1H3	10062	broad.mit.edu	37	11	47282886	47282887	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:47282886_47282887insC	ENST00000467728.1	+	4	1832_1833	c.594_595insC	c.(592-597)tcccccfs	p.SP198fs	NR1H3_ENST00000405853.3_Frame_Shift_Ins_p.SP198fs|NR1H3_ENST00000407404.1_Frame_Shift_Ins_p.SP198fs|NR1H3_ENST00000527949.1_Frame_Shift_Ins_p.SP107fs|NR1H3_ENST00000395397.3_Frame_Shift_Ins_p.SP153fs|NR1H3_ENST00000441012.2_Frame_Shift_Ins_p.SP198fs|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Frame_Shift_Ins_p.SP153fs|NR1H3_ENST00000481889.2_Frame_Shift_Ins_p.SP153fs			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	198					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGGCTTCCTCACCCCCCCAAAT	0.594													10	83	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													16	460	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													15	482	---	---	---	---					
BEST1	7439	broad.mit.edu	37	11	61727447	61727448	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:61727447_61727448insC	ENST00000449131.2	+	8	938_939	c.852_853insC	c.(850-855)caccccfs	p.HP284fs	BEST1_ENST00000526988.1_Frame_Shift_Ins_p.T306fs|BEST1_ENST00000534553.1_Intron|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378042.3_Frame_Shift_Ins_p.HP257fs|BEST1_ENST00000378043.4_Frame_Shift_Ins_p.HP344fs|BEST1_ENST00000301774.9_Intron	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	344					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CCGAGCCACAGCCCCCCTACAC	0.624													17	1030	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													8	288	---	---	---	---					
RASGRP2	10235	broad.mit.edu	37	11	64507637	64507638	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:64507637_64507638insG	ENST00000377494.1	-	5	1294		c.e5-2		RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGGTAGGGCTGGGGGGGCAGG	0.569													7	181	---	---	---	---					
RAB1B	81876	broad.mit.edu	37	11	66039887	66039888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:66039887_66039888insG	ENST00000311481.6	+	4	382_383	c.235_236insG	c.(235-237)gggfs	p.G79fs	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Intron	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579													11	374	---	---	---	---					
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-279)cggfs	p.R93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644													8	168	---	---	---	---					
PPFIA1	8500	broad.mit.edu	37	11	70194406	70194407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:70194406_70194407insC	ENST00000253925.7	+	16	2258_2259	c.2043_2044insC	c.(2041-2046)atccccfs	p.IP681fs	PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	681					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCTCCATTCCCCCCTACCC	0.554													7	828	---	---	---	---					
MYO7A	4647	broad.mit.edu	37	11	76867057	76867058	+	Frame_Shift_Ins	INS	-	-	C	rs111033187		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:76867057_76867058insC	ENST00000409709.3	+	5	662_663	c.390_391insC	c.(388-393)atccccfs	p.IP130fs	MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.IP130fs|MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.IP130fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.IP119fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	130	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGGGGAGATGCCCCCCCACAT	0.564													7	73	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:85435355_85435356insG	ENST00000359152.5	-	1	3715_3716	c.3716_3717insC	c.(3715-3717)cgafs	p.R1239fs	SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000527523.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	400					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.480													11	190	---	---	---	---					
CUL5	8065	broad.mit.edu	37	11	107940858	107940859	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:107940858_107940859delAT	ENST00000393094.2	+	8	1432_1433	c.816_817delAT	c.(814-819)tcttfs	p.SF272fs		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	272					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGGTGACATCATTTAAAGAGAC	0.347													37	373	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													9	379	---	---	---	---					
PHLDB1	23187	broad.mit.edu	37	11	118495753	118495754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:118495753_118495754insC	ENST00000361417.2	+	6	870_871	c.459_460insC	c.(457-462)ggccccfs	p.GP153fs	PHLDB1_ENST00000356063.5_Frame_Shift_Ins_p.GP153fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	153										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GAGCCCCTGGGCCCCCCTACAG	0.609													16	1269	---	---	---	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:118629613_118629614insG	ENST00000264018.4	-	9	1170		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								9	151	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													16	1877	---	---	---	---					
FLI1	2313	broad.mit.edu	37	11	128680804	128680805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:128680804_128680805insG	ENST00000344954.6	+	9	1569_1570	c.1181_1182insG	c.(1180-1182)aggfs	p.R394fs	FLI1_ENST00000281428.8_Frame_Shift_Ins_p.R361fs|FLI1_ENST00000534087.1_Frame_Shift_Ins_p.R394fs|FLI1_ENST00000525560.1_Frame_Shift_Ins_p.R234fs|FLI1_ENST00000429175.2_Frame_Shift_Ins_p.R427fs			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	427					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACCTCCCCCACGGGGGGAATCT	0.564			T	EWSR1	Ewing sarcoma								7	324	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													8	224	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134062758	134062759	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:134062758_134062759insC	ENST00000534548.2	-	16	1934_1935	c.1870_1871insG	c.(1870-1872)ggtfs	p.G624fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	624					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CACCGGGACCACCCCCCGCAAC	0.540													13	447	---	---	---	---					
GLB1L3	112937	broad.mit.edu	37	11	134181004	134181005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:134181004_134181005insC	ENST00000431683.2	+	13	1227_1228	c.1227_1228insC	c.(1225-1230)taccccfs	p.YP409fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	409					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGGCTGTGTATCCCCCCGTGAG	0.604													7	958	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs137990643	by1000genomes	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)cggfs	p.R812fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594													7	443	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6923985	6923986	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:6923985_6923986insC	ENST00000011653.4	+	5	692_693	c.434_435insC	c.(433-435)accfs	p.T145fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.T90fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	145	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				ACCTTGGAGAGCCCCCCTGGTA	0.579													7	1447	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													20	606	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6927635	6927636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:6927635_6927636insG	ENST00000011653.4	+	8	1463_1464	c.1205_1206insG	c.(1204-1206)cggfs	p.R402fs		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	402					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTGATTGTGCTGGGGGGCGTCG	0.629													7	407	---	---	---	---					
M6PR	4074	broad.mit.edu	37	12	9095101	9095102	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:9095101_9095102insC	ENST00000000412.3	-	6	1089_1090	c.621_622insG	c.(619-624)ggtcctfs	p.P208fs		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	208					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		TGGTATAGGAACCCCCCAACAA	0.450													7	563	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													34	1659	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													11	192	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													10	255	---	---	---	---					
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:53715141_53715142insG	ENST00000209873.4	-	1	273_274	c.108_109insC	c.(106-111)ccacttfs	p.L37fs	AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs|AAAS_ENST00000549983.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	37					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCGGAAGTCGGGGGGCGGGC	0.653													8	234	---	---	---	---					
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:53856277_53856278insC	ENST00000603815.1	+	8	867_868	c.517_518insC	c.(517-519)cccfs	p.P173fs	PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.500													11	198	---	---	---	---					
TESPA1	9840	broad.mit.edu	37	12	55354984	55354985	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:55354984_55354985insG	ENST00000524622.1	-	8	1781_1782	c.1120_1121insC	c.(1120-1122)ccafs	p.P374fs	TESPA1_ENST00000316577.8_Frame_Shift_Ins_p.P512fs|TESPA1_ENST00000449076.1_Frame_Shift_Ins_p.P512fs|TESPA1_ENST00000532804.1_Frame_Shift_Ins_p.P374fs|TESPA1_ENST00000531122.1_Frame_Shift_Ins_p.P374fs	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	512																	AGTCTGGTGGTGGTGGGGGTGC	0.535													9	506	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)gggfs	p.G579fs	IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													17	1293	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56558259	56558260	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:56558259_56558260insG	ENST00000550164.1	-	28	3502_3503	c.3488_3489insC	c.(3487-3489)cccfs	p.P1163fs	SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1132	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCAGGTTAGGTGGGGGGAGAGT	0.614													8	494	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													8	324	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4459-4464)taggggfs	p.*G1487fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589													19	322	---	---	---	---					
R3HDM2	22864	broad.mit.edu	37	12	57662753	57662754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:57662753_57662754insC	ENST00000402412.1	-	17	2216_2217	c.1826_1827insG	c.(1825-1827)gcafs	p.A609fs	R3HDM2_ENST00000393811.2_Frame_Shift_Ins_p.A322fs|R3HDM2_ENST00000347140.3_Frame_Shift_Ins_p.A595fs|R3HDM2_ENST00000441731.2_Frame_Shift_Ins_p.A290fs|R3HDM2_ENST00000413953.2_Frame_Shift_Ins_p.A322fs|R3HDM2_ENST00000403821.2_Frame_Shift_Ins_p.A629fs|R3HDM2_ENST00000358907.2_Frame_Shift_Ins_p.A595fs|RP11-123K3.4_ENST00000548184.1_RNA			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	595	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTTGCATCTGGCCCCCCATGCT	0.579													8	750	---	---	---	---					
METTL21B	25895	broad.mit.edu	37	12	58174036	58174037	+	Splice_Site	INS	-	-	G	rs143311691		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:58174036_58174037insG	ENST00000333012.5	+	4	475		c.e4-1		RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000551420.1_Splice_Site|METTL21B_ENST00000300209.8_Splice_Site|METTL21B_ENST00000548256.1_Splice_Site|RP11-571M6.15_ENST00000471530.1_Intron	NM_206914.1	NP_996797.1	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						CCTCTCTCTCAGGGGGGGATGT	0.584													15	443	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			10	295	---	---	---	---					
TMCC3	57458	broad.mit.edu	37	12	94975857	94975858	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:94975857_94975858insG	ENST00000261226.4	-	2	666_667	c.535_536insC	c.(535-537)ttgfs	p.L179fs	TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.L148fs	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	179						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTCCATGCAATGGGGGGCAGTT	0.495													8	738	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													13	194	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113759072	113759073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:113759072_113759073insC	ENST00000552014.1	-	4	752_753	c.237_238insG	c.(235-240)ggacctfs	p.P80fs	SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Frame_Shift_Ins_p.P80fs|SLC24A6_ENST00000546737.1_Frame_Shift_Ins_p.P80fs			Q6J4K2	NCKX6_HUMAN		80					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TAGTCCAGGTACCCCCCATCAC	0.624													8	1188	---	---	---	---					
SIRT4	23409	broad.mit.edu	37	12	120750293	120750294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:120750293_120750294insG	ENST00000202967.4	+	3	591_592	c.532_533insG	c.(532-534)gggfs	p.G178fs	SIRT4_ENST00000537892.1_Intron	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	178	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAGACTCCCCGGGGGGTGCTG	0.579													11	388	---	---	---	---					
FAM101A	144347	broad.mit.edu	37	12	124719609	124719610	+	RNA	INS	-	-	CATTAA			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:124719609_124719610insCATTAA	ENST00000540762.1	+	0	444																											accatcaccatcaccatcacca	0.485													2	4	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1657-1662)atccccfs	p.IP553fs	EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs			Q96L91	EP400_HUMAN	E1A binding protein p400	553					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589													13	811	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cctgttfs	p.V698fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	698					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)					13	198	---	---	---	---					
FLT3	2322	broad.mit.edu	37	13	28608096	28608097	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:28608096_28608097insT	ENST00000380982.4	-	15	1950_1951	c.1869_1870insA	c.(1867-1872)aatgatfs	p.ND623fs	FLT3_ENST00000537084.1_Frame_Shift_Ins_p.ND623fs|FLT3_ENST00000241453.7_Frame_Shift_Ins_p.ND623fs			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	623	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCGTTCATCACTTTTCCAAAAG	0.411			"""Mis, O"""		"""AML, ALL"""								10	1767	---	---	---	---					
MRPS31	10240	broad.mit.edu	37	13	41340958	41340959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:41340958_41340959insG	ENST00000323563.6	-	2	399_400	c.363_364insC	c.(361-366)ccaaagfs	p.PK121fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	121						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGTCTTCTTTTGGGGGGCTTTG	0.366													7	163	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													21	308	---	---	---	---					
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs137853287		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cctgctfs	p.A769fs	ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD).|M -> R (in WD).|M -> V (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACAAAGAGCATGGGGGGCGTGT	0.520									Wilson disease				11	718	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77641916	77641917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:77641916_77641917insG	ENST00000407578.2	-	71	12520_12521	c.12254_12255insC	c.(12253-12255)cgcfs	p.R4085fs	MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.R4047fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.R4047fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATATCTGCTGGGGGGAGGGA	0.436													7	344	---	---	---	---					
OR4M1	441670	broad.mit.edu	37	14	20248930	20248931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:20248930_20248931insG	ENST00000315957.4	+	1	530_531	c.449_450insG	c.(448-450)aggfs	p.R150fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCCTGGATGGGGGGCTTCA	0.505													7	1197	---	---	---	---					
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.460													8	1113	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20846337	20846338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:20846337_20846338insC	ENST00000262715.5	-	39	5606_5607	c.5566_5567insG	c.(5566-5568)tgtfs	p.C1856fs	TEP1_ENST00000545983.1_Frame_Shift_Ins_p.C194fs|TEP1_ENST00000556935.1_Frame_Shift_Ins_p.C1748fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1856					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACAGCCACAACCCCCCCAGGC	0.624													7	150	---	---	---	---					
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:22192097_22192098insC	ENST00000390425.2	+	0	138_139																											GCTGGAAAGGACCCCCCCAATC	0.574													11	374	---	---	---	---					
TRAV19	28664	broad.mit.edu	37	14	22476138	22476141	+	RNA	DEL	AGGT	AGGT	-	rs34929909		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:22476138_22476141delAGGT	ENST00000390447.3	+	0	185_188																											ATGGCTCAGAAGGTAACTCAAGCG	0.412													7	28	---	---	---	---					
CDH24	64403	broad.mit.edu	37	14	23523784	23523785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:23523784_23523785insC	ENST00000397359.3	-	5	973_974	c.714_715insG	c.(712-717)ggtgtcfs	p.V239fs	CDH24_ENST00000487137.2_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000267383.5_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000554034.1_Frame_Shift_Ins_p.V239fs	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	239	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTGCCTGACAGCCCCCCCATGT	0.609											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	87	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505													8	421	---	---	---	---					
C14orf28	122525	broad.mit.edu	37	14	45369723	45369724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:45369723_45369724insG	ENST00000325192.3	+	2	360_361	c.85_86insG	c.(85-87)gggfs	p.G29fs	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.G29fs	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	29										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TGTTCTTCCTTGGGGGGGTGTT	0.376													7	64	---	---	---	---					
ABHD12B	145447	broad.mit.edu	37	14	51347189	51347190	+	Frame_Shift_Ins	INS	-	-	G	rs141865189		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:51347189_51347190insG	ENST00000337334.2	+	4	370_371	c.355_356insG	c.(355-357)gggfs	p.G119fs	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	119							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CCCCAGCTGCCGGGGGGAAGAT	0.490													9	518	---	---	---	---					
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cgafs	p.R239fs	MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000440435.2_3'UTR|MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.450													8	997	---	---	---	---					
ELMSAN1	91748	broad.mit.edu	37	14	74206605	74206606	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:74206605_74206606insG	ENST00000286523.5	-	2	888_889	c.106_107insC	c.(106-108)gcafs	p.A36fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.A36fs	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GATGGACTGCTGGGGGGGCTGC	0.668													7	137	---	---	---	---					
LTBP2	4053	broad.mit.edu	37	14	74972756	74972757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:74972756_74972757insC	ENST00000261978.4	-	28	4557_4558	c.4171_4172insG	c.(4171-4173)tggfs	p.W1391fs	LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.W1347fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1391					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCACCTCCAGCCCCCCGTGGG	0.634													7	251	---	---	---	---					
EIF3LP1	319117	broad.mit.edu	37	14	82383671	82383671	+	RNA	DEL	C	C	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:82383671delC	ENST00000554814.1	+	0	315																											TCATGATGTACCCCATGCATA	0.488													35	164	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													22	807	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccgcafs	p.A204fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	272	---	---	---	---					
RP11-1129I3.1	0	broad.mit.edu	37	15	56852469	56852469	+	RNA	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:56852469delT	ENST00000562300.1	-	0	439																											catttctttcttttttttttc	0.448													2	4	---	---	---	---					
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)del	p.L591del	SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547													7	219	---	---	---	---					
SNX33	257364	broad.mit.edu	37	15	75942735	75942736	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:75942735_75942736insC	ENST00000308527.5	+	1	2489_2490	c.1292_1293insC	c.(1291-1293)gccfs	p.A431fs		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	431	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TTCCAGATGGACCCCCCCTTTT	0.569													9	282	---	---	---	---					
SLC28A1	9154	broad.mit.edu	37	15	85488004	85488005	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:85488004_85488005insG	ENST00000394573.1	+	18	1982_1983	c.1780_1781insG	c.(1780-1782)gggfs	p.G594fs	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Frame_Shift_Ins_p.G594fs|SLC28A1_ENST00000286749.3_Frame_Shift_Ins_p.G594fs|SLC28A1_ENST00000538177.1_Frame_Shift_Ins_p.G428fs	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	594					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTACATGCCCAGGGGGGCTGAA	0.604													7	777	---	---	---	---					
IDH2	3418	broad.mit.edu	37	15	90631917	90631918	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:90631917_90631918insC	ENST00000330062.3	-	4	548_549	c.435_436insG	c.(433-438)ggctgtfs	p.C146fs	IDH2_ENST00000539790.1_Frame_Shift_Ins_p.C16fs|IDH2_ENST00000540499.2_Frame_Shift_Ins_p.C94fs|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	146					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGGAAGACAGTCCCCCCCAGGA	0.564			M		GBM								7	142	---	---	---	---					
SV2B	9899	broad.mit.edu	37	15	91832791	91832792	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:91832791_91832792insT	ENST00000394232.1	+	12	2219_2220	c.1749_1750insT	c.(1747-1752)ctttttfs	p.LF583fs	SV2B_ENST00000545111.2_Frame_Shift_Ins_p.LF432fs|SV2B_ENST00000330276.4_Frame_Shift_Ins_p.LF583fs	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	583					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GCTTCTTCCTGTTTTTTGGCAA	0.520													7	566	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	81765	81766	+	RNA	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:81765_81766insC	ENST00000568710.1	-	0	434																											GGCAACCCCTGCCCCCCATGTC	0.564													8	715	---	---	---	---					
SLX4	84464	broad.mit.edu	37	16	3634840	3634841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:3634840_3634841insG	ENST00000294008.3	-	13	5308_5309	c.4668_4669insC	c.(4666-4671)ccaagtfs	p.S1557fs		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1557	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGGGCACTTTGGGGGGCAAGT	0.500								Direct reversal of damage					17	1211	---	---	---	---					
PPL	5493	broad.mit.edu	37	16	4935688	4935689	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:4935688_4935689insC	ENST00000345988.2	-	22	3056_3057	c.2967_2968insG	c.(2965-2970)ggaggafs	p.G990fs	PPL_ENST00000590782.2_Frame_Shift_Ins_p.G988fs	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	990					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACGTACTCCTGCCCCCCGTCTC	0.668													10	353	---	---	---	---					
CIITA	4261	broad.mit.edu	37	16	10995899	10995900	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:10995899_10995900insC	ENST00000324288.8	+	7	619_620	c.486_487insC	c.(484-489)gaccccfs	p.DP162fs	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	162					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCACAGCTGAGCCCCCCACTGT	0.634			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								11	1176	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													7	622	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20482935	20482937	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:20482935_20482937delTTA	ENST00000573854.1	+	6	932_934	c.818_820delTTA	c.(817-822)ctg>c	p.LM273del	ACSM2A_ENST00000536134.1_In_Frame_Del_p.LM45del|ACSM2A_ENST00000417235.2_In_Frame_Del_p.LM194del|ACSM2A_ENST00000575690.1_In_Frame_Del_p.LM273del|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_In_Frame_Del_p.LM273del|ACSM2A_ENST00000219054.6_In_Frame_Del_p.LM273del	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	273					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGTGCTCACTTATGGAACCTTG	0.438													11	1953	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													7	289	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													8	359	---	---	---	---					
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1867-1872)ttccccfs	p.FP623fs	POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	623					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574													7	133	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3730-3735)gcggggfs	p.AG1244fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1244	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614													8	1033	---	---	---	---					
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(853-858)ctccccfs	p.LP285fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599													9	110	---	---	---	---					
DPEP2	64174	broad.mit.edu	37	16	68021467	68021468	+	Frame_Shift_Ins	INS	-	-	G	rs1133090	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:68021467_68021468insG	ENST00000412757.2	-	12	2067_2068	c.1402_1403insC	c.(1402-1404)catfs	p.H468fs	DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	468			H -> D (in dbSNP:rs1133090).		hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGGGCCATGTGGGGGGAGGAC	0.545													10	710	---	---	---	---					
SNTB2	6645	broad.mit.edu	37	16	69279579	69279580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:69279579_69279580insC	ENST00000336278.4	+	2	693_694	c.655_656insC	c.(655-657)cccfs	p.P219fs	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	219	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		GGAAGGTGCAGCCCCCCAGTCA	0.450													8	438	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74423894	74423895	+	Splice_Site	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:74423894_74423895insC	ENST00000429990.1	+	6	704_705	c.606_splice	c.e6-1	p.T203_splice						nuclear pore complex interacting protein family, member B15																		CTTTTTCAGATCCCCCCTTCTG	0.455													8	1121	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					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						CTGATGGATATCCCATTTGGTCC	0.453													17	603	---	---	---	---					
GLOD4	51031	broad.mit.edu	37	17	673668	673669	+	Frame_Shift_Ins	INS	-	-	G	rs148496651		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:673668_673669insG	ENST00000301329.6	-	6	707_708	c.622_623insC	c.(622-624)gaafs	p.E208fs	GLOD4_ENST00000536578.1_Frame_Shift_Ins_p.E199fs|GLOD4_ENST00000301328.5_Frame_Shift_Ins_p.E223fs	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	223						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TACCTCTTTCTGGGGGCAAGAG	0.480													7	2408	---	---	---	---					
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)gggfs	p.G361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.530								Nucleotide excision repair (NER)					12	1114	---	---	---	---					
ZZEF1	23140	broad.mit.edu	37	17	3977519	3977520	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:3977519_3977520insC	ENST00000381638.2	-	24	3733_3734	c.3609_3610insG	c.(3607-3612)ggtggafs	p.G1204fs		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1204							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGTAAATCCAGCCCCCAAGACA	0.579													8	2035	---	---	---	---					
PLD2	5338	broad.mit.edu	37	17	4719138	4719139	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:4719138_4719139insG	ENST00000263088.6	+	14	1495_1496	c.1364_1365insG	c.(1363-1365)cggfs	p.R455fs	PLD2_ENST00000572940.1_Frame_Shift_Ins_p.R455fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	455	Catalytic.|PLD phosphodiesterase 1.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GTAGCATTCCTGGGGGGACTGG	0.594											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	813	---	---	---	---					
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:4884523_4884524insC	ENST00000361571.5	-	7	1104_1105	c.693_694insG	c.(691-696)ggttggfs	p.W232fs	CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACTTACCAAGCCCCCCACTGC	0.550											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	1115	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579470	7579471	+	Frame_Shift_Ins	INS	-	-	G	rs56275308		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:7579470_7579471insG	ENST00000420246.2	-	4	348_349	c.216_217insC	c.(214-219)cctggcfs	p.G73fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G73fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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)		GCAGGGGCCACGGGGGGAGCAG	0.604		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)			14	1004	---	---	---	---					
DNAH2	146754	broad.mit.edu	37	17	7696373	7696374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:7696373_7696374insG	ENST00000572933.1	+	48	8879_8880	c.7419_7420insG	c.(7417-7422)ttggggfs	p.LG2473fs	DNAH2_ENST00000389173.2_Frame_Shift_Ins_p.LG2473fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2473	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACGTGCCATTCGGGGGCAAAAG	0.510													8	1179	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:7798764_7798765insC	ENST00000380358.4	+	10	1789_1790	c.1788_1789insC	c.(1786-1791)ccccccfs	p.PP596fs	CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574													53	679	---	---	---	---					
CTC1	80169	broad.mit.edu	37	17	8138564	8138565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:8138564_8138565insC	ENST00000315684.8	-	8	1252_1253	c.1245_1246insG	c.(1243-1248)ggcaagfs	p.K416fs		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	416					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGCCTTCTTGTCCCCCCTCCCA	0.584													7	371	---	---	---	---					
ARHGEF15	22899	broad.mit.edu	37	17	8224297	8224298	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:8224297_8224298insC	ENST00000361926.3	+	16	2622_2623	c.2512_2513insC	c.(2512-2514)cccfs	p.P838fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P838fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	838					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCCCAATGCCCCCCCACCC	0.574													11	196	---	---	---	---					
TOP3A	7156	broad.mit.edu	37	17	18196068	18196069	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:18196068_18196069insC	ENST00000321105.5	-	11	1385_1386	c.1171_1172insG	c.(1171-1173)cttfs	p.L391fs	TOP3A_ENST00000540524.1_Intron|TOP3A_ENST00000542570.1_Frame_Shift_Ins_p.L296fs	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	391					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGGGCAAAGGCCCCCCAGCGT	0.550													7	630	---	---	---	---					
EPN2	22905	broad.mit.edu	37	17	19232053	19232054	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:19232053_19232054insG	ENST00000314728.5	+	8	1661_1662	c.1177_1178insG	c.(1177-1179)gggfs	p.G393fs	EPN2_ENST00000395626.1_Frame_Shift_Ins_p.G393fs|EPN2_ENST00000347697.2_Frame_Shift_Ins_p.G336fs|EPN2_ENST00000395618.3_Frame_Shift_Ins_p.G108fs|EPN2_ENST00000395620.2_Frame_Shift_Ins_p.G336fs|EPN2_ENST00000571254.1_Frame_Shift_Ins_p.G329fs|EPN2_ENST00000575595.1_Frame_Shift_Ins_p.G101fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	393	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CATTGACCCATGGGGGGTGCCC	0.599													8	572	---	---	---	---					
KIAA0100	9703	broad.mit.edu	37	17	26962586	26962587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:26962586_26962587insG	ENST00000528896.2	-	16	2092_2093	c.2018_2019insC	c.(2017-2019)cgafs	p.R673fs	KIAA0100_ENST00000389003.3_Frame_Shift_Ins_p.R530fs|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Frame_Shift_Ins_p.R530fs	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	673						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACATGTGATCTGGGGGGCTCCA	0.505													8	271	---	---	---	---					
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:31439004_31439005insC	ENST00000225823.2	-	2	1661_1662	c.789_790insG	c.(787-792)ggcaggfs	p.R264fs	RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.550													10	392	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35487100	35487101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:35487100_35487101insC	ENST00000353139.5	-	46	6204_6205	c.5723_5724insG	c.(5722-5724)gatfs	p.D1908fs	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.D1871fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.D1793fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.D1813fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1871	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAATCTGGATGCCCCCCAGCTG	0.495													14	843	---	---	---	---					
CASC3	22794	broad.mit.edu	37	17	38323810	38323811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:38323810_38323811insC	ENST00000264645.7	+	9	1822_1823	c.1596_1597insC	c.(1594-1599)gaccccfs	p.DP532fs		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	532	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CTGTGCCAGAGCCCCCCGCCCC	0.500													8	404	---	---	---	---					
WNK4	65266	broad.mit.edu	37	17	40939869	40939870	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:40939869_40939870insG	ENST00000246914.5	+	8	1836_1837	c.1815_1816insG	c.(1813-1818)ccggggfs	p.PG605fs	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAGCCCCCTGGGGGGGTGCC	0.634													11	186	---	---	---	---					
AOC2	314	broad.mit.edu	37	17	40996940	40996941	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:40996940_40996941insC	ENST00000253799.3	+	1	324_325	c.297_298insC	c.(295-300)ctccccfs	p.LP99fs	AOC2_ENST00000452774.2_Frame_Shift_Ins_p.LP99fs	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	99					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGCTGCAGCTGCCCCCCAAGGC	0.678													7	231	---	---	---	---					
ETV4	2118	broad.mit.edu	37	17	41610700	41610701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:41610700_41610701insG	ENST00000319349.5	-	7	697_698	c.399_400insC	c.(397-402)ccgacafs	p.T134fs	ETV4_ENST00000538265.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000545089.1_Intron	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	134					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								8	141	---	---	---	---					
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-645)cccfs	p.P215fs	CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629													12	240	---	---	---	---					
UBTF	7343	broad.mit.edu	37	17	42290652	42290653	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:42290652_42290653insG	ENST00000302904.4	-	6	967		c.e6-2		UBTF_ENST00000436088.1_Splice_Site|UBTF_ENST00000526094.1_Splice_Site|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Splice_Site|UBTF_ENST00000343638.5_Splice_Site|UBTF_ENST00000527034.1_Splice_Site|UBTF_ENST00000393606.3_Splice_Site|UBTF_ENST00000533177.1_Splice_Site			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I						positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATATTTCATCTGGGGGGAGGAG	0.599													7	170	---	---	---	---					
GPATCH8	23131	broad.mit.edu	37	17	42475531	42475532	+	Frame_Shift_Ins	INS	-	-	G	rs34826608		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:42475531_42475532insG	ENST00000434000.1	-	9	3961_3962	c.3679_3680insC	c.(3679-3681)ggafs	p.G1227fs	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.G1305fs			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1305						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTGGCTTTCCAGGGGGGCCAGT	0.559													8	633	---	---	---	---					
GPATCH8	23131	broad.mit.edu	37	17	42476335	42476336	+	Frame_Shift_Ins	INS	-	-	G	rs138327092		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:42476335_42476336insG	ENST00000434000.1	-	9	3157_3158	c.2875_2876insC	c.(2875-2877)ctafs	p.L959fs	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.L1037fs			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1037	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCGGAAATAGTGGGGGGACTGG	0.550													7	318	---	---	---	---					
MRPL10	124995	broad.mit.edu	37	17	45905873	45905874	+	Frame_Shift_Ins	INS	-	-	G	rs147331240		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:45905873_45905874insG	ENST00000290208.7	-	2	697_698	c.245_246insC	c.(244-246)ccafs	p.P82fs	MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	72					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TTACCTCCTGTGGGGGGCTGGG	0.525													7	568	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													28	1848	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)ccaggafs	p.G21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569													10	318	---	---	---	---					
TRMT112P3	729667	broad.mit.edu	37	17	61028282	61028283	+	RNA	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:61028282_61028283insC	ENST00000582505.1	-	0	354																											ACTGCAAGGTGCCCCCCATCAC	0.550													7	185	---	---	---	---					
SCN4A	6329	broad.mit.edu	37	17	62049212	62049213	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:62049212_62049213insG	ENST00000578147.1	-	4	559		c.e4-2		SCN4A_ENST00000435607.1_Splice_Site			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AAGGTGTACCTGGGGGGGAGAG	0.589													9	165	---	---	---	---					
AXIN2	8313	broad.mit.edu	37	17	63532584	63532585	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:63532584_63532585insC	ENST00000307078.5	-	8	2307_2308	c.1994_1995insG	c.(1993-1995)gaafs	p.E665fs	AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	665					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				8	111	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													22	984	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													10	378	---	---	---	---					
CDC42EP4	23580	broad.mit.edu	37	17	71281585	71281587	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:71281585_71281587delTCC	ENST00000335793.3	-	2	1447_1449	c.1053_1055delGGA	c.(1051-1056)gat>ga	p.ED351del	CDC42EP4_ENST00000581014.1_3'UTR|CDC42EP4_ENST00000439510.2_In_Frame_Del_p.ED281del			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	351					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			ACGGATTTCATCCTCCTCCTCCT	0.640													8	563	---	---	---	---					
SDK2	54549	broad.mit.edu	37	17	71427673	71427674	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:71427673_71427674insC	ENST00000392650.3	-	11	1447_1448	c.1447_1448insG	c.(1447-1449)cgafs	p.R483fs	SDK2_ENST00000388726.3_Frame_Shift_Ins_p.R483fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	483	Ig-like C2-type 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGCCTCATCGACCCCCCGAGAG	0.604													9	332	---	---	---	---					
ICT1	3396	broad.mit.edu	37	17	73015832	73015833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:73015832_73015833insG	ENST00000301585.5	+	3	274_275	c.261_262insG	c.(259-264)ccggggfs	p.PG87fs		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	87					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GTAGTGGTCCTGGGGGGCAGAA	0.441													14	976	---	---	---	---					
SLC16A5	9121	broad.mit.edu	37	17	73094187	73094188	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:73094187_73094188insG	ENST00000450736.2	+	3	669_670	c.254_255insG	c.(253-255)cggfs	p.R85fs	SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000580123.1_Frame_Shift_Ins_p.R85fs|SLC16A5_ENST00000329783.4_Frame_Shift_Ins_p.R85fs|SLC16A5_ENST00000538213.2_Frame_Shift_Ins_p.R125fs			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	85					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	ACCGTGATGCTGGGGGGCGTGC	0.614													8	814	---	---	---	---					
EXOC7	23265	broad.mit.edu	37	17	74087246	74087247	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:74087246_74087247insC	ENST00000607838.1	-	7	972_973	c.878_879insG	c.(877-879)gtcfs	p.V293fs	EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000589210.1_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000335146.7_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000467929.2_Frame_Shift_Ins_p.V252fs|EXOC7_ENST00000405575.4_Frame_Shift_Ins_p.V293fs	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	293					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGAGGTTAGAGCCCCCCTTTTT	0.554													11	831	---	---	---	---					
SEC14L1	6397	broad.mit.edu	37	17	75208208	75208209	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:75208208_75208209insAA	ENST00000413679.2	+	15	2091_2092	c.1788_1789insAA	c.(1786-1791)gaaagtfs	p.S597fs	SEC14L1_ENST00000443798.4_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000591437.1_Frame_Shift_Ins_p.S563fs|SEC14L1_ENST00000436233.4_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000430767.4_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000392476.2_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000585618.1_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000431431.2_Frame_Shift_Ins_p.S563fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	597	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGCTCATAGACAAAGTCTGGCA	0.545													69	206	---	---	---	---					
EPB41L3	23136	broad.mit.edu	37	18	5397069	5397069	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:5397069delT	ENST00000341928.2	-	18	3169	c.2829delA	c.(2827-2829)aafs	p.K943fs	EPB41L3_ENST00000400111.3_Frame_Shift_Del_p.K721fs|EPB41L3_ENST00000540638.2_Frame_Shift_Del_p.K721fs|EPB41L3_ENST00000342933.3_Frame_Shift_Del_p.K943fs|EPB41L3_ENST00000544123.1_Frame_Shift_Del_p.K774fs|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Frame_Shift_Del_p.K248fs|EPB41L3_ENST00000427684.2_Frame_Shift_Del_p.K240fs	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	943	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAAAATGAGGTTTTTGTTCCA	0.413													36	80	---	---	---	---					
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)gacfs	p.D215fs	SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAGGGTGTCCGGGGGGGCTTC	0.653													22	617	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.530													14	442	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)ccaaccfs	p.T130fs	DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495													13	218	---	---	---	---					
ZNF823	55552	broad.mit.edu	37	19	11833874	11833875	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:11833874_11833875insG	ENST00000341191.6	-	4	627_628	c.474_475insC	c.(472-477)ccccggfs	p.R159fs	ZNF823_ENST00000545749.1_5'UTR	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTCTTTCCGGTGGGGGGCCTTT	0.470										HNSCC(68;0.2)			7	209	---	---	---	---					
ZNF625	90589	broad.mit.edu	37	19	12256750	12256751	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:12256750_12256751insC	ENST00000355738.1	-	4	631_632	c.282_283insG	c.(280-285)ggaaccfs	p.T95fs	ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.T95fs|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.T161fs|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TCATAAGGTTTCCCCCCAGTGT	0.421													11	681	---	---	---	---					
ZNF443	10224	broad.mit.edu	37	19	12542363	12542364	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:12542363_12542364insA	ENST00000301547.5	-	4	819_820	c.622_623insT	c.(622-624)gccfs	p.A208fs	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	208					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAAACTGGGCCAAAAAAACGCT	0.406													8	349	---	---	---	---					
SLC1A6	6511	broad.mit.edu	37	19	15067446	15067447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:15067446_15067447insC	ENST00000430939.2	-	6	947_948	c.818_819insG	c.(817-819)gcafs	p.A273fs	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000221742.3_Frame_Shift_Ins_p.A337fs			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	337					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGCCCAGCTGACCCCCCAGGAC	0.584													8	714	---	---	---	---					
CIB3	117286	broad.mit.edu	37	19	16275653	16275654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16275653_16275654insC	ENST00000269878.4	-	5	466_467	c.417_418insG	c.(415-420)ggtgagfs	p.E140fs	CIB3_ENST00000379859.3_Frame_Shift_Ins_p.E91fs|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	140							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TCGGCACTCAGCCCCCCCCGCG	0.564													9	320	---	---	---	---					
CHERP	10523	broad.mit.edu	37	19	16633993	16633994	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:16633993_16633994insG	ENST00000546361.2	-	11	2000_2001	c.1849_1850insC	c.(1849-1851)tggfs	p.W617fs	CHERP_ENST00000198939.6_Frame_Shift_Ins_p.W628fs|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	617	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GTTGAAGCCATGGGGGGGAGGG	0.673													9	119	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)ggatcafs	p.S1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584													7	156	---	---	---	---					
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(484-489)gtccccfs	p.VP162fs	MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	162						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653													14	184	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													11	348	---	---	---	---					
KIRREL2	84063	broad.mit.edu	37	19	36357213	36357214	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:36357213_36357214insC	ENST00000360202.5	+	15	2144_2145	c.1946_1947insC	c.(1945-1947)gccfs	p.A649fs	KIRREL2_ENST00000586102.2_Frame_Shift_Ins_p.A629fs|KIRREL2_ENST00000592409.1_Frame_Shift_Ins_p.A614fs|KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGCA	0.629													7	106	---	---	---	---					
FAM98C	147965	broad.mit.edu	37	19	38899415	38899416	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:38899415_38899416insG	ENST00000252530.5	+	8	962_963	c.943_944insG	c.(943-945)gggfs	p.G315fs	FAM98C_ENST00000343358.7_Frame_Shift_Ins_p.G233fs|FAM98C_ENST00000588262.1_Frame_Shift_Ins_p.R181fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGTTCCAGACCGGGGGGGCCGC	0.564													9	113	---	---	---	---					
LGALS17A	400696	broad.mit.edu	37	19	40172016	40172017	+	RNA	INS	-	-	G	rs28457128	by1000genomes	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:40172016_40172017insG	ENST00000412609.1	+	0	61																											GAATCTGTTACGGGGGGGAGGC	0.584													7	55	---	---	---	---					
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)ccaggtfs	p.G318fs	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505													14	804	---	---	---	---					
CYP2A13	1553	broad.mit.edu	37	19	41601781	41601782	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:41601781_41601782insC	ENST00000330436.3	+	9	1420_1421	c.1420_1421insC	c.(1420-1422)cccfs	p.P474fs		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	474					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TATCGACGTGTCCCCCAAACAC	0.589													10	1327	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545													20	597	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C	rs146240710		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:45556128_45556129insC	ENST00000544944.2	+	3	969_970	c.277_278insC	c.(277-279)cccfs	p.P93fs	CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs|CLASRP_ENST00000391953.4_Intron			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing|RNA splicing	nucleus		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614													21	846	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)ccccgafs	p.R743fs	SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	743					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)		CAGTACTCGGTGGGGGGCACAC	0.649													9	419	---	---	---	---					
FAM83E	54854	broad.mit.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:49107037_49107038insG	ENST00000263266.3	-	4	1078_1079	c.889_890insC	c.(889-891)gaafs	p.E297fs		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGCA	0.723													7	40	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)caafs	p.Q583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545													21	376	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													7	307	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(850-855)tgggggfs	p.WG284fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	284					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441													8	546	---	---	---	---					
ZNF649	65251	broad.mit.edu	37	19	52394013	52394014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:52394013_52394014insC	ENST00000354957.3	-	5	1659_1660	c.1375_1376insG	c.(1375-1377)ttcfs	p.F459fs	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTTC	0.450													7	2280	---	---	---	---					
NLRP13	126204	broad.mit.edu	37	19	56443532	56443533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:56443532_56443533insG	ENST00000588751.1	-	1	169_170	c.145_146insC	c.(145-147)gggfs	p.G49fs	NLRP13_ENST00000342929.3_Frame_Shift_Ins_p.G49fs			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	49	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAAGTGCCCCTGGGGGGCCGAC	0.554													9	231	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	86						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644													16	555	---	---	---	---					
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650	by1000genomes	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)gggfs	p.G301fs	SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000346595.2_Intron	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	301			R -> P (in dbSNP:rs6084654).		polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	p.R301W(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673													8	106	---	---	---	---					
DUSP15	128853	broad.mit.edu	37	20	30451726	30451727	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:30451726_30451727insC	ENST00000278979.3	-	5	313_314	c.237_238insG	c.(235-240)ggactgfs	p.L80fs	DUSP15_ENST00000339738.5_Frame_Shift_Ins_p.L83fs|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000375966.4_Frame_Shift_Ins_p.L80fs			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	80	Tyrosine-protein phosphatase.					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACAAGGCAGTTCCCCCCATTAA	0.550													8	581	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:30737490_30737491insC	ENST00000217315.5	+	10	1297_1298	c.957_958insC	c.(955-960)agccccfs	p.SP319fs	TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	336						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604													7	141	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1353)gggfs	p.G451fs	DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559													12	254	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33337505	33337506	+	Frame_Shift_Ins	INS	-	-	G	rs61754975		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:33337505_33337506insG	ENST00000374796.2	-	10	5062_5063	c.2492_2493insC	c.(2491-2493)ccafs	p.P831fs	NCOA6_ENST00000359003.2_Frame_Shift_Ins_p.P831fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	831	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-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			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						CCTGCACATGAGGGGGGACCAT	0.500													7	993	---	---	---	---					
RPN2	6185	broad.mit.edu	37	20	35860725	35860726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:35860725_35860726insC	ENST00000237530.6	+	14	1919_1920	c.1608_1609insC	c.(1606-1611)agccccfs	p.SP536fs	RPN2_ENST00000373622.5_Frame_Shift_Ins_p.SP504fs|RPN2_ENST00000470352.1_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	536					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGAGAAGAGGCCCCCCACCGT	0.574													15	911	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													16	262	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													17	448	---	---	---	---					
RBPJL	11317	broad.mit.edu	37	20	43940237	43940238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:43940237_43940238insC	ENST00000343694.3	+	4	338_339	c.266_267insC	c.(265-267)tccfs	p.S89fs	RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	89					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGGTTCTTCTGCCCCCCGCCCT	0.604											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	244	---	---	---	---					
PIGT	51604	broad.mit.edu	37	20	44050025	44050026	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:44050025_44050026insC	ENST00000279036.6	+	9	1116_1117	c.1036_1037insC	c.(1036-1038)cccfs	p.P346fs	PIGT_ENST00000341555.5_Frame_Shift_Ins_p.P152fs|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000279035.9_Frame_Shift_Ins_p.P244fs|PIGT_ENST00000535404.1_Frame_Shift_Ins_p.P191fs|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.P290fs|PIGT_ENST00000545755.1_Frame_Shift_Ins_p.P84fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	346					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGTG	0.574													7	151	---	---	---	---					
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:44680421_44680422insG	ENST00000454036.1	+	18	2434_2435	c.2358_2359insG	c.(2356-2361)ctggggfs	p.LG786fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	786					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599													12	373	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)ccccctfs	p.PP464fs	SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	464						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604													9	1084	---	---	---	---					
MOCS3	27304	broad.mit.edu	37	20	49576707	49576708	+	Frame_Shift_Ins	INS	-	-	G	rs142791519		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:49576707_49576708insG	ENST00000244051.1	+	1	1345_1346	c.1328_1329insG	c.(1327-1329)gggfs	p.G443fs		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	443	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CGGGATGTTGTGGGGGGCCTCA	0.475													8	901	---	---	---	---					
ATP9A	10079	broad.mit.edu	37	20	50305661	50305662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:50305661_50305662insG	ENST00000338821.5	-	9	1004_1005	c.740_741insC	c.(739-741)catfs	p.H247fs	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	247					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCGCTGATCGGGGGGTCGCT	0.564													10	878	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													7	177	---	---	---	---					
C20orf85	128602	broad.mit.edu	37	20	56735726	56735727	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:56735726_56735727insC	ENST00000371168.3	+	4	323_324	c.262_263insC	c.(262-264)cccfs	p.P88fs		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	88										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GGTCTTTCCATCCCCCCCAGTC	0.579													7	199	---	---	---	---					
TAF4	6874	broad.mit.edu	37	20	60574110	60574111	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:60574110_60574111insA	ENST00000252996.3	-	12	2840_2841	c.2841_2842insT	c.(2839-2844)ttaacafs	p.LT947fs		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	947					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCAAGCTGTTCAAAAAACTTGA	0.505													8	1007	---	---	---	---					
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-537)cccfs	p.P179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465													14	267	---	---	---	---					
TIAM1	7074	broad.mit.edu	37	21	32493036	32493037	+	Frame_Shift_Ins	INS	-	-	G	rs143258724		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:32493036_32493037insG	ENST00000286827.3	-	29	4896_4897	c.4425_4426insC	c.(4423-4428)ccgtggfs	p.W1476fs	TIAM1_ENST00000541036.1_Frame_Shift_Ins_p.W1416fs	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1476					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCCCACCACCGGGGGGCTGCT	0.569													7	221	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													10	111	---	---	---	---					
DOPEY2	9980	broad.mit.edu	37	21	37603298	37603299	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:37603298_37603299insG	ENST00000399151.3	+	14	2301_2302	c.2216_2217insG	c.(2215-2217)cggfs	p.R739fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	739					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTCATTGACCTGGGGGGTTCCA	0.584													11	601	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													19	476	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)ccaaatfs	p.N1463fs	MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609													15	809	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:18022285_18022286insC	ENST00000262608.8	+	15	2390_2391	c.2390_2391insC	c.(2389-2391)gccfs	p.A797fs	CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609													9	279	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	RNA	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:21399220_21399221insC	ENST00000439119.1	-	0	51					NR_002829.1																						TCTGCAGGGCGCCCCCCCACCA	0.599													10	239	---	---	---	---					
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)cggfs	p.R143fs		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGAGTCCCTGGGGGGAGCGA	0.455													8	331	---	---	---	---					
CRYBB1	1414	broad.mit.edu	37	22	26995459	26995460	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:26995459_26995460insG	ENST00000215939.2	-	6	883_884	c.753_754insC	c.(751-756)ccagtgfs	p.V252fs		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	252	C-terminal arm.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGGACTCACTTGGGGGGCTCTG	0.554													8	295	---	---	---	---					
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		THOC5_ENST00000397871.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535													10	854	---	---	---	---					
BPIFC	254240	broad.mit.edu	37	22	32831828	32831829	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:32831828_32831829insG	ENST00000397452.1	-	9	896_897	c.786_787insC	c.(784-789)cctctcfs	p.L263fs	BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Frame_Shift_Ins_p.L77fs|BPIFC_ENST00000300399.3_Frame_Shift_Ins_p.L263fs			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	263						extracellular region	lipopolysaccharide binding|phospholipid binding										ACTGGTGAGAAGGGGGGGTCGG	0.460													7	180	---	---	---	---					
POLR2F	5435	broad.mit.edu	37	22	38363690	38363691	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:38363690_38363691insG	ENST00000442738.2	+	5	477_478	c.352_353insG	c.(352-354)gggfs	p.G118fs	POLR2F_ENST00000470701.1_Frame_Shift_Ins_p.G113fs|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000484894.1_Intron	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	118					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CTATGAAGACTGGGGGGTGGAC	0.515													7	660	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)cccfs	p.P1234fs	TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.450													7	577	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6961-6966)caccccfs	p.HP2321fs	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2321					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				7	147	---	---	---	---					
CYP2D6	1565	broad.mit.edu	37	22	42524213	42524214	+	Frame_Shift_Ins	INS	-	-	G	rs72549352		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:42524213_42524214insG	ENST00000360608.5	-	5	919_920	c.805_806insC	c.(805-807)agafs	p.R269fs	NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	269							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTCAGGTCTCGGGGGGGCTGG	0.629													7	71	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													13	493	---	---	---	---					
CERK	64781	broad.mit.edu	37	22	47086001	47086002	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:47086001_47086002insC	ENST00000216264.8	-	12	1540_1541	c.1428_1429insG	c.(1426-1431)ggagaafs	p.E477fs	CERK_ENST00000471929.1_5'UTR|CERK_ENST00000541677.1_Frame_Shift_Ins_p.E279fs	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	477					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	p.K477fs*>61(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGCGCTTCTTCCCCCCCTCCT	0.559													14	499	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000406733.1_5'UTR	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													21	511	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													8	274	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													14	2126	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)gccfs	p.A482fs	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								41	472	---	---	---	---					
RAB40AL	282808	broad.mit.edu	37	X	102192383	102192384	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:102192383_102192384insG	ENST00000218249.5	+	1	184_185	c.137_138insG	c.(136-138)cggfs	p.R46fs		NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	46					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						TACAGTCACCTGGGGGGAATCG	0.599													7	230	---	---	---	---					
DCX	1641	broad.mit.edu	37	X	110644444	110644445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:110644444_110644445insG	ENST00000338081.3	-	3	892_893	c.721_722insC	c.(721-723)gtcfs	p.V241fs	DCX_ENST00000371993.2_Frame_Shift_Ins_p.V160fs|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Frame_Shift_Ins_p.V160fs|DCX_ENST00000488120.1_Frame_Shift_Ins_p.V160fs|DCX_ENST00000356915.2_Frame_Shift_Ins_p.V160fs	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	241					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCCAAGGACTGGGGGGCTTTC	0.510													10	437	---	---	---	---					
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)cccfs	p.P310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564													10	379	---	---	---	---					
TENM1	10178	broad.mit.edu	37	X	123514784	123514785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:123514784_123514785insC	ENST00000422452.2	-	32	7863_7864	c.7800_7801insG	c.(7798-7803)ggggcgfs	p.A2601fs	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Frame_Shift_Ins_p.A2594fs	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.R2596fs*15(1)									AGAATCCGCCTCCCCCCAGTGT	0.500													7	155	---	---	---	---					
ZNF449	203523	broad.mit.edu	37	X	134494267	134494268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chrX:134494267_134494268insC	ENST00000339249.4	+	5	963_964	c.823_824insC	c.(823-825)cccfs	p.P275fs		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	275					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATGGGAAACCCCCCCAGAG	0.436													9	111	---	---	---	---					
USP24	23358	broad.mit.edu	37	1	55551626	55551626	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr1:55551626delA	ENST00000294383.6	-	56	6753	c.6754delT	c.(6754-6756)atfs	p.Y2252fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.Y2092fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2252					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTATCCTGATAAAACAAGGCA	0.378													17	91	---	---	---	---					
SLC12A8	84561	broad.mit.edu	37	3	124810981	124810982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:124810981_124810982insT	ENST00000423114.2	-	11	1852_1853	c.1853_1854insA	c.(1852-1854)tacfs	p.Y618fs	SLC12A8_ENST00000430155.2_Frame_Shift_Ins_p.Y390fs|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000469902.1_Frame_Shift_Ins_p.Y589fs|SLC12A8_ENST00000393469.4_Frame_Shift_Ins_p.Y589fs			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	589					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						ACATGTGGGTATAGAAAGAAGT	0.450													46	79	---	---	---	---					
OPA1	4976	broad.mit.edu	37	3	193382692	193382693	+	Frame_Shift_Ins	INS	-	-	TATA			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr3:193382692_193382693insTATA	ENST00000361510.2	+	27	2919_2920	c.2685_2686insTATA	c.(2683-2688)gtatagfs	p.*896fs	OPA1_ENST00000361150.2_Frame_Shift_Ins_p.*842fs|OPA1_ENST00000361715.2_Frame_Shift_Ins_p.*860fs|OPA1_ENST00000361908.3_Frame_Shift_Ins_p.*878fs|OPA1_ENST00000361828.2_Frame_Shift_Ins_p.*859fs|OPA1_ENST00000392438.3_Frame_Shift_Ins_p.*841fs	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	841					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGCATCAAGTTTATAGAAGACA	0.327													32	106	---	---	---	---					
CCDC96	257236	broad.mit.edu	37	4	7044507	7044509	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:7044507_7044509delCTC	ENST00000310085.4	-	1	219_221	c.157_159delGAG	c.(157-159)del	p.E53del	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	53	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AAGCCGCTTGCTCCTCCTCCTCC	0.729													2	4	---	---	---	---					
FAT4	79633	broad.mit.edu	37	4	126329664	126329665	+	Frame_Shift_Ins	INS	-	-	ATTT			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:126329664_126329665insATTT	ENST00000394329.3	+	4	5648_5649	c.5635_5636insATTT	c.(5635-5637)tgtfs	p.C1879fs	FAT4_ENST00000335110.5_Frame_Shift_Ins_p.C177fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1879	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTACATATATTGTGAATGAA	0.322													85	251	---	---	---	---					
KIAA0922	23240	broad.mit.edu	37	4	154523863	154523863	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr4:154523863delA	ENST00000409663.3	+	23	2672	c.2620delA	c.(2620-2622)cgfs	p.T874fs	KIAA0922_ENST00000409959.3_Frame_Shift_Del_p.T875fs|KIAA0922_ENST00000440693.1_Frame_Shift_Del_p.T791fs	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	874						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTGGAGGCTCACGGTCTTCTT	0.507													149	274	---	---	---	---					
NRG2	9542	broad.mit.edu	37	5	139422171	139422172	+	In_Frame_Ins	INS	-	-	TAG			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr5:139422171_139422172insTAG	ENST00000541337.1	-	1	712_713	c.483_484insCTA	c.(481-486)gtaggt>gtCTAaggt	p.161_162VG>V*G	NRG2_ENST00000545385.1_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000289409.4_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000361474.1_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000358522.3_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000394770.1_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000289422.7_In_Frame_Ins_p.161_162VG>V*G	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	161					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGCACCTTTACCAACGCCA	0.693													21	57	---	---	---	---					
TBCC	6903	broad.mit.edu	37	6	42713500	42713501	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:42713500_42713501insA	ENST00000244625.2	-	2	874_875	c.311_312insT	c.(310-312)tctfs	p.S104fs	TBCC_ENST00000372876.1_Frame_Shift_Ins_p.S104fs			Q15814	TBCC_HUMAN	tubulin folding cofactor C	104					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AAGCGGCTAGGAAAAAAACTGA	0.668													9	868	---	---	---	---					
ENPP4	22875	broad.mit.edu	37	6	46108939	46108940	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:46108939_46108940insA	ENST00000321037.4	+	3	1207_1208	c.977_978insA	c.(976-978)caafs	p.Q326fs		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	326						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ACAATTGTGCTAAATGAATCAT	0.337													364	126	---	---	---	---					
SNX14	57231	broad.mit.edu	37	6	86223568	86223568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr6:86223568delT	ENST00000314673.3	-	26	2779	c.2603delA	c.(2602-2604)agfs	p.K868fs	SNX14_ENST00000513865.1_Frame_Shift_Del_p.K587fs|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Frame_Shift_Del_p.K815fs|SNX14_ENST00000505648.1_Frame_Shift_Del_p.K816fs|SNX14_ENST00000369627.2_Frame_Shift_Del_p.K859fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	868					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCCTTTTTGCTTATCTTGGAG	0.303													65	76	---	---	---	---					
GUSB	2990	broad.mit.edu	37	7	65429390	65429396	+	Frame_Shift_Del	DEL	TGGTACT	TGGTACT	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr7:65429390_65429396delTGGTACT	ENST00000304895.4	-	11	1833_1839	c.1703_1709delAGTACCA	c.(1702-1710)ctfs	p.QYH568fs	GUSB_ENST00000421103.1_Frame_Shift_Del_p.QYH422fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.QYH517fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	568					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGACCCAGATGGTACTGCTCTAGCAG	0.435													59	102	---	---	---	---					
UBR5	51366	broad.mit.edu	37	8	103341320	103341324	+	Frame_Shift_Del	DEL	TGTTA	TGTTA	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr8:103341320_103341324delTGTTA	ENST00000520539.1	-	11	1926_1930	c.1320_1324delTAACA	c.(1318-1326)aaagfs	p.NNK440fs	UBR5_ENST00000521922.1_Frame_Shift_Del_p.NNK434fs|UBR5_ENST00000220959.4_Frame_Shift_Del_p.NNK440fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	440					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTTCATACCTTGTTATTTTCTGTAG	0.327													125	229	---	---	---	---					
SAAL1	113174	broad.mit.edu	37	11	18124827	18124828	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:18124827_18124828insT	ENST00000524803.1	-	2	250_251	c.201_202insA	c.(199-204)gaaaatfs	p.N68fs	SAAL1_ENST00000300013.4_Frame_Shift_Ins_p.N68fs|SAAL1_ENST00000529318.1_Frame_Shift_Ins_p.N68fs|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	68					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						TTCTCCATTTCTTCATCAAGCT	0.401													137	314	---	---	---	---					
CUL5	8065	broad.mit.edu	37	11	107940858	107940859	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr11:107940858_107940859delAT	ENST00000393094.2	+	8	1432_1433	c.816_817delAT	c.(814-819)tcttfs	p.SF272fs		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	272					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGGTGACATCATTTAAAGAGAC	0.347													46	285	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													6	13	---	---	---	---					
EIF3LP1	319117	broad.mit.edu	37	14	82383671	82383671	+	RNA	DEL	C	C	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr14:82383671delC	ENST00000554814.1	+	0	315																											TCATGATGTACCCCATGCATA	0.488													15	43	---	---	---	---					
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)del	p.L591del	SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547													7	194	---	---	---	---					
LOC100134368	100134368	broad.mit.edu	37	16	437259	437260	+	RNA	DEL	AT	AT	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:437259_437260delAT	ENST00000412293.1	+	0	521					NR_024453.2																						CTAATTCTAAATATATATATAT	0.421													7	28	---	---	---	---					
GLIS2	84662	broad.mit.edu	37	16	4383391	4383392	+	In_Frame_Ins	INS	-	-	TTT			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr16:4383391_4383392insTTT	ENST00000262366.3	+	4	1037_1038	c.216_217insTTT	c.(214-219)cgtttc>cgTTTtttc	p.73_74insF	GLIS2_ENST00000433375.1_In_Frame_Ins_p.73_74insF|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	73	Interaction with CTNND1 (By similarity).|Transcription activation (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGGAGGGACGCTTTTCAGCAGC	0.639													22	38	---	---	---	---					
SEC14L1	6397	broad.mit.edu	37	17	75208208	75208209	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr17:75208208_75208209insAA	ENST00000413679.2	+	15	2091_2092	c.1788_1789insAA	c.(1786-1791)gaaagtfs	p.S597fs	SEC14L1_ENST00000431431.2_Frame_Shift_Ins_p.S563fs|SEC14L1_ENST00000430767.4_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000436233.4_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000443798.4_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000591437.1_Frame_Shift_Ins_p.S563fs|SEC14L1_ENST00000585618.1_Frame_Shift_Ins_p.S597fs|SEC14L1_ENST00000392476.2_Frame_Shift_Ins_p.S597fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	597	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGCTCATAGACAAAGTCTGGCA	0.545													187	443	---	---	---	---					
EPB41L3	23136	broad.mit.edu	37	18	5397069	5397069	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr18:5397069delT	ENST00000341928.2	-	18	3169	c.2829delA	c.(2827-2829)aafs	p.K943fs	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Frame_Shift_Del_p.K240fs|EPB41L3_ENST00000542146.1_Frame_Shift_Del_p.K248fs|EPB41L3_ENST00000544123.1_Frame_Shift_Del_p.K774fs|EPB41L3_ENST00000400111.3_Frame_Shift_Del_p.K721fs|EPB41L3_ENST00000342933.3_Frame_Shift_Del_p.K943fs|EPB41L3_ENST00000540638.2_Frame_Shift_Del_p.K721fs	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	943	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAAAATGAGGTTTTTGTTCCA	0.413													59	108	---	---	---	---					
LOC100420587	100420587	broad.mit.edu	37	19	29198696	29198696	+	RNA	DEL	A	A	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	c22139de-5dec-4184-9d2d-44bbc9af3ae3	g.chr19:29198696delA	ENST00000592347.1	-	0	642																											GTCCATGAGTAGGGTCCACAG	0.463													2	4	---	---	---	---					
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)afs	p.E116fs	DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													7	87	---	---	---	---					
CROCCP2	84809	broad.mit.edu	37	1	16953827	16953828	+	RNA	INS	-	-	C	rs57007114		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:16953827_16953828insC	ENST00000412962.1	-	0	477																											TCACTTTCCTGCCCGAACCTCC	0.609													8	27	---	---	---	---					
CLCA2	9635	broad.mit.edu	37	1	86921042	86921043	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:86921042_86921043insC	ENST00000370565.4	+	14	2826_2827	c.2664_2665insC	c.(2662-2667)atccccfs	p.IP888fs		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	888					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CTCTGTTTATTCCCCCCAATTC	0.396													7	258	---	---	---	---					
CAMK1G	57172	broad.mit.edu	37	1	209782336	209782337	+	Frame_Shift_Ins	INS	-	-	C	rs144298174		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:209782336_209782337insC	ENST00000009105.1	+	8	892_893	c.647_648insC	c.(646-648)tccfs	p.S216fs	CAMK1G_ENST00000361322.2_Frame_Shift_Ins_p.S216fs|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	216	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTCTGTGGATACCCCCCATTCT	0.510													7	569	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)del	p.E155del	ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													7	202	---	---	---	---					
MYO7B	4648	broad.mit.edu	37	2	128383065	128383066	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:128383065_128383066insC	ENST00000389524.4	+	30	4145_4146	c.4092_4093insC	c.(4090-4095)aaccccfs	p.NP1364fs	MYO7B_ENST00000409090.1_Frame_Shift_Ins_p.NP217fs|MYO7B_ENST00000428314.1_Frame_Shift_Ins_p.NP1364fs|MYO7B_ENST00000409816.2_Frame_Shift_Ins_p.NP1364fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1364	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACAGGACCAAGCCCCCAGACAG	0.678													8	1106	---	---	---	---					
WDR5B	54554	broad.mit.edu	37	3	122133489	122133489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:122133489delT	ENST00000330689.4	-	1	1393	c.887delA	c.(886-888)ctfs	p.H296fs		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	296										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		AACATCTGTATGGCCTTGTAA	0.408													20	395	---	---	---	---					
SLC12A8	84561	broad.mit.edu	37	3	124810981	124810982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:124810981_124810982insT	ENST00000423114.2	-	11	1852_1853	c.1853_1854insA	c.(1852-1854)tacfs	p.Y618fs	SLC12A8_ENST00000393469.4_Frame_Shift_Ins_p.Y589fs|SLC12A8_ENST00000430155.2_Frame_Shift_Ins_p.Y390fs|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000469902.1_Frame_Shift_Ins_p.Y589fs			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	589					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						ACATGTGGGTATAGAAAGAAGT	0.450													37	118	---	---	---	---					
DSP	1832	broad.mit.edu	37	6	7542148	7542149	+	Translation_Start_Site	INS	-	-	A	rs151331814	by1000genomes	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:7542148_7542149insA	ENST00000379802.3	+	0	341_342				DSP_ENST00000418664.2_De_novo_Start_InFrame	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCCCGCCGACATGAGCTGCAA	0.718													13	2	---	---	---	---					
LRFN2	57497	broad.mit.edu	37	6	40399587	40399588	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:40399587_40399588insG	ENST00000338305.6	-	2	1807_1808	c.1265_1266insC	c.(1264-1266)cgafs	p.R422fs		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	422	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCCCGTTCCGGGGGGCTTTT	0.639													16	655	---	---	---	---					
GLTSCR1L	23506	broad.mit.edu	37	6	42819857	42819858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:42819857_42819858insC	ENST00000314073.5	+	7	2043_2044	c.1867_1868insC	c.(1867-1869)cccfs	p.P623fs	GLTSCR1L_ENST00000394168.1_Frame_Shift_Ins_p.P623fs					GLTSCR1-like																		GAATCAGACTTCCCCCATTTCT	0.441													9	1693	---	---	---	---					
SNX14	57231	broad.mit.edu	37	6	86223568	86223568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:86223568delT	ENST00000314673.3	-	26	2779	c.2603delA	c.(2602-2604)agfs	p.K868fs	SNX14_ENST00000505648.1_Frame_Shift_Del_p.K816fs|SNX14_ENST00000369627.2_Frame_Shift_Del_p.K859fs|SNX14_ENST00000346348.3_Frame_Shift_Del_p.K815fs|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Frame_Shift_Del_p.K587fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	868					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCCTTTTTGCTTATCTTGGAG	0.303													16	5	---	---	---	---					
SDK1	221935	broad.mit.edu	37	7	4245587	4245588	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:4245587_4245588insC	ENST00000404826.2	+	36	5314_5315	c.5175_5176insC	c.(5173-5178)ccccccfs	p.PP1725fs	SDK1_ENST00000389531.3_Frame_Shift_Ins_p.PP1705fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1725	Fibronectin type-III 11.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGACCCACCACCCCCGGAGAG	0.668													4	6	---	---	---	---					
RBAK	57786	broad.mit.edu	37	7	5104048	5104050	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:5104048_5104050delGAA	ENST00000396912.1	+	5	1480_1482	c.961_963delGAA	c.(961-963)del	p.E321del	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_In_Frame_Del_p.E321del	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	321					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TAAATGTAATGAATGTGGGAAAA	0.419													10	221	---	---	---	---					
GUSB	2990	broad.mit.edu	37	7	65429390	65429396	+	Frame_Shift_Del	DEL	TGGTACT	TGGTACT	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:65429390_65429396delTGGTACT	ENST00000304895.4	-	11	1833_1839	c.1703_1709delAGTACCA	c.(1702-1710)ctfs	p.QYH568fs	GUSB_ENST00000345660.6_Frame_Shift_Del_p.QYH517fs|GUSB_ENST00000421103.1_Frame_Shift_Del_p.QYH422fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	568					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGACCCAGATGGTACTGCTCTAGCAG	0.435													10	79	---	---	---	---					
SLC12A9	56996	broad.mit.edu	37	7	100459489	100459490	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:100459489_100459490insG	ENST00000354161.3	+	12	1792_1793	c.1667_1668insG	c.(1666-1668)aggfs	p.R556fs	SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.R467fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.R556fs|SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.R467fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.R556fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	556						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGCTTAAGAAGGGGGGGCTGT	0.644													7	105	---	---	---	---					
PTCH1	5727	broad.mit.edu	37	9	98211548	98211549	+	Frame_Shift_Ins	INS	-	-	G	rs138240178	byFrequency	TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:98211548_98211549insG	ENST00000430669.2	-	22	3993_3994	c.3408_3409insC	c.(3406-3411)ccgcgtfs	p.R1137fs	PTCH1_ENST00000331920.6_Frame_Shift_Ins_p.R1203fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.R1137fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.R1202fs			Q13635	PTC1_HUMAN	patched 1	1203					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.S1203fs*52(2)|p.S1202fs*52(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGGACCACGCTGGGGGGTGGCT	0.594													2	4	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.550													7	398	---	---	---	---					
SEC16A	9919	broad.mit.edu	37	9	139345822	139345823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr9:139345822_139345823insG	ENST00000313050.7	-	21	6270_6271	c.6197_6198insC	c.(6196-6198)cggfs	p.R2066fs	SEC16A_ENST00000290037.6_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000431893.2_Frame_Shift_Ins_p.R1888fs|SEC16A_ENST00000371706.3_Frame_Shift_Ins_p.R1888fs	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1888	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GATCCCACCCTGGGGGGGCCTC	0.629													7	44	---	---	---	---					
ARNTL	406	broad.mit.edu	37	11	13398236	13398237	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:13398236_13398237insC	ENST00000389708.3	+	16	1825_1826	c.1470_1471insC	c.(1468-1473)caccccfs	p.HP490fs	ARNTL_ENST00000401424.1_Frame_Shift_Ins_p.P416fs|ARNTL_ENST00000403482.3_Frame_Shift_Ins_p.P457fs|ARNTL_ENST00000361003.4_Frame_Shift_Ins_p.P341fs|ARNTL_ENST00000389707.4_Frame_Shift_Ins_p.P458fs|ARNTL_ENST00000396441.3_Frame_Shift_Ins_p.P458fs|ARNTL_ENST00000403510.3_Frame_Shift_Ins_p.P415fs|ARNTL_ENST00000403290.1_Frame_Shift_Ins_p.P459fs			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	0					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GCTCACAGCATCCCCCCACAGC	0.584													9	668	---	---	---	---					
R3HDM2	22864	broad.mit.edu	37	12	57662753	57662754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr12:57662753_57662754insC	ENST00000402412.1	-	17	2216_2217	c.1826_1827insG	c.(1825-1827)gcafs	p.A609fs	R3HDM2_ENST00000347140.3_Frame_Shift_Ins_p.A595fs|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Frame_Shift_Ins_p.A290fs|R3HDM2_ENST00000413953.2_Frame_Shift_Ins_p.A322fs|R3HDM2_ENST00000403821.2_Frame_Shift_Ins_p.A629fs|R3HDM2_ENST00000393811.2_Frame_Shift_Ins_p.A322fs|R3HDM2_ENST00000358907.2_Frame_Shift_Ins_p.A595fs			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	595	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTTGCATCTGGCCCCCCATGCT	0.579													8	750	---	---	---	---					
LTBP2	4053	broad.mit.edu	37	14	74972756	74972757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr14:74972756_74972757insC	ENST00000261978.4	-	28	4557_4558	c.4171_4172insG	c.(4171-4173)tggfs	p.W1391fs	LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.W1347fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1391					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCACCTCCAGCCCCCCGTGGG	0.634													7	251	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89862279	89862280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:89862279_89862280insC	ENST00000268124.5	-	20	3488_3489	c.3155_3156insG	c.(3154-3156)gacfs	p.D1052fs	POLG_ENST00000442287.2_Frame_Shift_Ins_p.D1052fs	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1052					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CTGACTCTGTGCCCCCCTTCCA	0.550								DNA polymerases (catalytic subunits)					8	268	---	---	---	---					
IDH2	3418	broad.mit.edu	37	15	90631917	90631918	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:90631917_90631918insC	ENST00000330062.3	-	4	548_549	c.435_436insG	c.(433-438)ggctgtfs	p.C146fs	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Frame_Shift_Ins_p.C94fs|IDH2_ENST00000539790.1_Frame_Shift_Ins_p.C16fs	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	146					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGGAAGACAGTCCCCCCCAGGA	0.564			M		GBM								7	142	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs75843814		TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020																											GATGCTGCTTCTCAGAGCTGCTGT	0.583													3	4	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20482935	20482937	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:20482935_20482937delTTA	ENST00000573854.1	+	6	932_934	c.818_820delTTA	c.(817-822)ctg>c	p.LM273del	ACSM2A_ENST00000575690.1_In_Frame_Del_p.LM273del|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_In_Frame_Del_p.LM273del|ACSM2A_ENST00000536134.1_In_Frame_Del_p.LM45del|ACSM2A_ENST00000417235.2_In_Frame_Del_p.LM194del|ACSM2A_ENST00000396104.2_In_Frame_Del_p.LM273del	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	273					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGTGCTCACTTATGGAACCTTG	0.438													11	1953	---	---	---	---					
ABCC11	85320	broad.mit.edu	37	16	48239420	48239421	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:48239420_48239421insC	ENST00000394747.1	-	12	2057_2058	c.1708_1709insG	c.(1708-1710)gcafs	p.A570fs	ABCC11_ENST00000394748.1_Frame_Shift_Ins_p.A570fs|ABCC11_ENST00000537808.1_Frame_Shift_Ins_p.A570fs|ABCC11_ENST00000353782.5_Frame_Shift_Ins_p.A570fs|ABCC11_ENST00000356608.2_Frame_Shift_Ins_p.A570fs	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	570	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GCTTCCCTGCACCCCCACCGAG	0.624													8	318	---	---	---	---					
DVL2	1856	broad.mit.edu	37	17	7129593	7129594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:7129593_7129594insC	ENST00000005340.5	-	15	2083_2084	c.1801_1802insG	c.(1801-1803)aggfs	p.R601fs	DVL2_ENST00000575458.1_Frame_Shift_Ins_p.R595fs	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	601					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	p.A601fs*80(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CGTGCGCCCTGCCCCCCCATCA	0.723													5	11	---	---	---	---					
TOP3A	7156	broad.mit.edu	37	17	18196068	18196069	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:18196068_18196069insC	ENST00000321105.5	-	11	1385_1386	c.1171_1172insG	c.(1171-1173)cttfs	p.L391fs	TOP3A_ENST00000542570.1_Frame_Shift_Ins_p.L296fs|TOP3A_ENST00000540524.1_Intron	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	391					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGGGCAAAGGCCCCCCAGCGT	0.550													7	630	---	---	---	---					
KIAA0100	9703	broad.mit.edu	37	17	26962586	26962587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:26962586_26962587insG	ENST00000528896.2	-	16	2092_2093	c.2018_2019insC	c.(2017-2019)cgafs	p.R673fs	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Frame_Shift_Ins_p.R530fs|KIAA0100_ENST00000544884.1_Frame_Shift_Ins_p.R530fs	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	673						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACATGTGATCTGGGGGGCTCCA	0.505													8	271	---	---	---	---					
SDK2	54549	broad.mit.edu	37	17	71427673	71427674	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:71427673_71427674insC	ENST00000392650.3	-	11	1447_1448	c.1447_1448insG	c.(1447-1449)cgafs	p.R483fs	SDK2_ENST00000388726.3_Frame_Shift_Ins_p.R483fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	483	Ig-like C2-type 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGCCTCATCGACCCCCCGAGAG	0.604													9	332	---	---	---	---					
ICT1	3396	broad.mit.edu	37	17	73015832	73015833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:73015832_73015833insG	ENST00000301585.5	+	3	274_275	c.261_262insG	c.(259-264)ccggggfs	p.PG87fs		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	87					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GTAGTGGTCCTGGGGGGCAGAA	0.441													14	976	---	---	---	---					
AKAP8	10270	broad.mit.edu	37	19	15484018	15484019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:15484018_15484019insC	ENST00000269701.2	-	5	564_565	c.504_505insG	c.(502-507)ggagtafs	p.V169fs		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	169					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TCACTGTACTGCCCCCCAAAGC	0.678													7	67	---	---	---	---					
CHERP	10523	broad.mit.edu	37	19	16633993	16633994	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:16633993_16633994insG	ENST00000546361.2	-	11	2000_2001	c.1849_1850insC	c.(1849-1851)tggfs	p.W617fs	CHERP_ENST00000198939.6_Frame_Shift_Ins_p.W628fs|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	617	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GTTGAAGCCATGGGGGGGAGGG	0.673													9	119	---	---	---	---					
FAM98C	147965	broad.mit.edu	37	19	38899415	38899416	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:38899415_38899416insG	ENST00000252530.5	+	8	962_963	c.943_944insG	c.(943-945)gggfs	p.G315fs	FAM98C_ENST00000343358.7_Frame_Shift_Ins_p.G233fs|FAM98C_ENST00000588262.1_Frame_Shift_Ins_p.R181fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGTTCCAGACCGGGGGGGCCGC	0.564													9	113	---	---	---	---					
CYP2A13	1553	broad.mit.edu	37	19	41601781	41601782	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:41601781_41601782insC	ENST00000330436.3	+	9	1420_1421	c.1420_1421insC	c.(1420-1422)cccfs	p.P474fs		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	474					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TATCGACGTGTCCCCCAAACAC	0.589													10	1327	---	---	---	---					
DUSP15	128853	broad.mit.edu	37	20	30451726	30451727	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3313-01A-01W-0886-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa307a53-a7fd-4319-855a-41f57c2379b7	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr20:30451726_30451727insC	ENST00000278979.3	-	5	313_314	c.237_238insG	c.(235-240)ggactgfs	p.L80fs	DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000375966.4_Frame_Shift_Ins_p.L80fs|DUSP15_ENST00000339738.5_Frame_Shift_Ins_p.L83fs			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	80	Tyrosine-protein phosphatase.					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACAAGGCAGTTCCCCCCATTAA	0.550													8	581	---	---	---	---					
RP11-423O2.5	0	broad.mit.edu	37	1	142812844	142812844	+	RNA	DEL	A	A	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:142812844delA	ENST00000423385.1	-	0	88																											AAGTATAGGCATTTGAAACAT	0.378													9	44	---	---	---	---					
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)del	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578													7	212	---	---	---	---					
LOC728730	728730	broad.mit.edu	37	2	39723084	39723085	+	RNA	INS	-	-	CTTC	rs76729915	by1000genomes	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:39723084_39723085insCTTC	ENST00000449569.1	+	0	282				AC007246.3_ENST00000422128.1_RNA|AC007246.3_ENST00000443038.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000446698.1_RNA	NR_037875.1																						tctttctttttcttccttcctt	0.351													3	6	---	---	---	---					
AC010987.5	0	broad.mit.edu	37	2	67865189	67865190	+	RNA	INS	-	-	AGGGAGGAAGGAAGGA	rs150354010	by1000genomes	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:67865189_67865190insAGGGAGGAAGGAAGGA	ENST00000419809.1	-	0	126																											gggaggaagggaggaaagaaag	0.396													3	4	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217474994	217474994	+	RNA	DEL	T	T	-	rs71401155		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr2:217474994delT	ENST00000441803.1	+	0	195																											tctttctttcttttttttttt	0.393													3	5	---	---	---	---					
SLC12A8	84561	broad.mit.edu	37	3	124810981	124810982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:124810981_124810982insT	ENST00000423114.2	-	11	1852_1853	c.1853_1854insA	c.(1852-1854)tacfs	p.Y618fs	SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Frame_Shift_Ins_p.Y390fs|SLC12A8_ENST00000393469.4_Frame_Shift_Ins_p.Y589fs|SLC12A8_ENST00000469902.1_Frame_Shift_Ins_p.Y589fs|SLC12A8_ENST00000314584.7_Intron			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	589					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						ACATGTGGGTATAGAAAGAAGT	0.450													46	79	---	---	---	---					
OPA1	4976	broad.mit.edu	37	3	193382692	193382693	+	Frame_Shift_Ins	INS	-	-	TATA			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr3:193382692_193382693insTATA	ENST00000361510.2	+	27	2919_2920	c.2685_2686insTATA	c.(2683-2688)gtatagfs	p.*896fs	OPA1_ENST00000361150.2_Frame_Shift_Ins_p.*842fs|OPA1_ENST00000361715.2_Frame_Shift_Ins_p.*860fs|OPA1_ENST00000361908.3_Frame_Shift_Ins_p.*878fs|OPA1_ENST00000361828.2_Frame_Shift_Ins_p.*859fs|OPA1_ENST00000392438.3_Frame_Shift_Ins_p.*841fs	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	841					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGCATCAAGTTTATAGAAGACA	0.327													32	106	---	---	---	---					
NRG2	9542	broad.mit.edu	37	5	139422171	139422172	+	In_Frame_Ins	INS	-	-	TAG			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr5:139422171_139422172insTAG	ENST00000541337.1	-	1	712_713	c.483_484insCTA	c.(481-486)gtaggt>gtCTAaggt	p.161_162VG>V*G	NRG2_ENST00000545385.1_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000289409.4_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000358522.3_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000361474.1_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000289422.7_In_Frame_Ins_p.161_162VG>V*G|NRG2_ENST00000394770.1_In_Frame_Ins_p.161_162VG>V*G	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	161					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGCACCTTTACCAACGCCA	0.693													21	57	---	---	---	---					
DSP	1832	broad.mit.edu	37	6	7542148	7542149	+	Translation_Start_Site	INS	-	-	A	rs151331814	by1000genomes	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:7542148_7542149insA	ENST00000379802.3	+	0	341_342				DSP_ENST00000418664.2_De_novo_Start_InFrame	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCCCGCCGACATGAGCTGCAA	0.718													18	2	---	---	---	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	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	1148	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													20	31	---	---	---	---					
SNX14	57231	broad.mit.edu	37	6	86223568	86223568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr6:86223568delT	ENST00000314673.3	-	26	2779	c.2603delA	c.(2602-2604)agfs	p.K868fs	SNX14_ENST00000346348.3_Frame_Shift_Del_p.K815fs|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Frame_Shift_Del_p.K859fs|SNX14_ENST00000513865.1_Frame_Shift_Del_p.K587fs|SNX14_ENST00000505648.1_Frame_Shift_Del_p.K816fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	868					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCCTTTTTGCTTATCTTGGAG	0.303													65	76	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													28	262	---	---	---	---					
GUSB	2990	broad.mit.edu	37	7	65429390	65429396	+	Frame_Shift_Del	DEL	TGGTACT	TGGTACT	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr7:65429390_65429396delTGGTACT	ENST00000304895.4	-	11	1833_1839	c.1703_1709delAGTACCA	c.(1702-1710)ctfs	p.QYH568fs	GUSB_ENST00000421103.1_Frame_Shift_Del_p.QYH422fs|GUSB_ENST00000345660.6_Frame_Shift_Del_p.QYH517fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	568					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGACCCAGATGGTACTGCTCTAGCAG	0.435													59	102	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142444235	142444238	+	RNA	DEL	GGGT	GGGT	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr8:142444235_142444238delGGGT	ENST00000430863.1	-	0	3937					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GGTGTTGGGGGGGTGGGGGGTGGG	0.637													2	4	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													8	23	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													6	13	---	---	---	---					
RP11-507B12.2	0	broad.mit.edu	37	15	61899461	61899462	+	RNA	INS	-	-	AAGA	rs67779623		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr15:61899461_61899462insAAGA	ENST00000559783.1	-	0	35																											aggaaggaaggaaggaaggaag	0.470													5	2	---	---	---	---					
LOC100134368	100134368	broad.mit.edu	37	16	437259	437260	+	RNA	DEL	AT	AT	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:437259_437260delAT	ENST00000412293.1	+	0	521					NR_024453.2																						CTAATTCTAAATATATATATAT	0.421													7	28	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													13	421	---	---	---	---					
GLIS2	84662	broad.mit.edu	37	16	4383391	4383392	+	In_Frame_Ins	INS	-	-	TTT			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr16:4383391_4383392insTTT	ENST00000262366.3	+	4	1037_1038	c.216_217insTTT	c.(214-219)cgtttc>cgTTTtttc	p.73_74insF	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_In_Frame_Ins_p.73_74insF			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	73	Interaction with CTNND1 (By similarity).|Transcription activation (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGGAGGGACGCTTTTCAGCAGC	0.639													22	38	---	---	---	---					
KRTAP9-9	81870	broad.mit.edu	37	17	39411670	39411671	+	In_Frame_Ins	INS	-	-	ACCTGCTGCAGGACC	rs58108918		TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:39411670_39411671insACCTGCTGCAGGACC	ENST00000394008.1	+	1	35_36	c.33_34insACCTGCTGCAGGACC	c.(31-36)cccctg>ccACCTGCTGCAGGACCcctg	p.10_11insPPAAG		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	10						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGTCAGCCTACCTGCTGCAG	0.604													14	147	---	---	---	---					
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	-	G	rs112393371	byFrequency	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr17:73569700_73569701insG	ENST00000392550.3	+	21	2981_2982	c.2864_2865insG	c.(2863-2865)cagfs	p.Q955fs	LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.Q955fs|LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.Q955fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	955					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668													7	86	---	---	---	---					
RP11-683L23.1	0	broad.mit.edu	37	18	48227	48228	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr18:48227_48228delTG	ENST00000573909.1	-	3	927_928	c.395_396delCA	c.(394-396)afs	p.T132fs	RP11-683L23.1_ENST00000308911.6_Frame_Shift_Del_p.T166fs|RP11-683L23.1_ENST00000594555.1_5'UTR																							GGATGCTGAATGTGTTTATGAT	0.579													28	250	---	---	---	---					
LOC100420587	100420587	broad.mit.edu	37	19	29198696	29198696	+	RNA	DEL	A	A	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:29198696delA	ENST00000592347.1	-	0	642																											GTCCATGAGTAGGGTCCACAG	0.463													2	4	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)ggc>g	p.EG711del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557													12	270	---	---	---	---					
CRYBB2P1	1416	broad.mit.edu	37	22	25855682	25855683	+	RNA	INS	-	-	GT	rs72063487	by1000genomes	TCGA-A3-3313-01A-01D-0966-08	TCGA-A3-3313-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ed88176-f3e8-43dd-a556-04cd73f0d3a1	e904a1a3-5c73-4fcc-b1db-e7819ac1a84e	g.chr22:25855682_25855683insGT	ENST00000354451.2	+	0	366																											CCTGGCAGCTGgtgtgtgtgtg	0.530													2	4	---	---	---	---