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
RNF220	55182	broad.mit.edu	37	1	44878184	44878184	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:44878184G>A	ENST00000355387.2	+	2	865	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	RNF220_ENST00000372247.2_Missense_Mutation_p.A139T|RNF220_ENST00000361799.2_Missense_Mutation_p.A139T			Q5VTB9	RN220_HUMAN	ring finger protein 220	139					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTTTACGCCGGCCAAGCGACT	0.547000													4	118					0	0	0.000248	0	0
DFFA	1676	broad.mit.edu	37	1	10523170	10523170	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:10523170G>A	ENST00000377038.3	-	5	795	c.728C>T	c.(727-729)aCt>aTt	p.T243I	DFFA_ENST00000377036.2_Missense_Mutation_p.T243I	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	243					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CCTCAGTGCAGTAAGGATGTG	0.577000													4	75					0	0	0.001168	0	0
TCF21	0	broad.mit.edu	37	6	134212927	134212927	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr6:134212927C>G	ENST00000367882.4	+	2	787	c.527C>G	c.(526-528)aCc>aGc	p.T176S	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T176S	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	176					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)		TTATGTGGAACCACCGCGTCC	0.657000													5	41					0	0	0.001168	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972719	29972719	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:29972719C>T	ENST00000378993.1	+	10	1955	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R428C	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	428	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGAAGAAGAACGTTTTGCCCT	0.353000													23	21					0	0	0.003954	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789258	6789258	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:6789258G>A	ENST00000338569.2	-	1	1028	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAATGTGCCAGCAGTATGTAT	0.483000													3	79					0	0	0.004672	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95705500	95705500	+	Silent	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr7:95705500T>C	ENST00000324972.6	+	15	1885	c.1692T>C	c.(1690-1692)aaT>aaC	p.N564N	DYNC1I1_ENST00000437599.1_Silent_p.N544N|DYNC1I1_ENST00000537881.1_Silent_p.N527N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000447467.2_Silent_p.N547N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	564					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACCTCAACAATGACACCGAGG	0.642000											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	20					0	0	0.000978	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175835	40175835	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:40175835A>G	ENST00000307641.5	+	4	1121	c.500A>G	c.(499-501)aAg>aGg	p.K167R	NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	167	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				TTGGCCAGCAAGATGACGCAA	0.612000													5	71					0	0	0.000602	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													5	73					0	0	0.000602	0	0
UBE2O	63893	broad.mit.edu	37	17	74396560	74396560	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:74396560G>A	ENST00000319380.7	-	7	1030	c.966C>T	c.(964-966)agC>agT	p.S322S		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	322							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AGGGTGGGGGGCTGACGCTGT	0.607000													7	35					0	0	0.006214	0	0
KCNK3	3777	broad.mit.edu	37	2	26950776	26950776	+	Silent	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:26950776C>T	ENST00000302909.3	+	2	650	c.525C>T	c.(523-525)gcC>gcT	p.A175A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	175					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCGGCGCCGCCGCCTTCT	0.637000													7	37					0	0	0.003080	0	0
ABCC5	10057	broad.mit.edu	37	3	183667559	183667559	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr3:183667559C>T	ENST00000334444.6	-	22	3449	c.3209G>A	c.(3208-3210)gGg>gAg	p.G1070E	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1070	ABC transmembrane type-1 2.					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)			AAACTCCTGCCCTTTATTGTA	0.562000													11	35					0	0	0.001368	0	0
PCF11	51585	broad.mit.edu	37	11	82877716	82877716	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:82877716T>A	ENST00000298281.4	+	5	2229	c.1777T>A	c.(1777-1779)Tct>Act	p.S593T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	593					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAGTTCCAAGTCTGCCAAAAG	0.363000													24	72					0	0	0.008361	0	0
TACC2	10579	broad.mit.edu	37	10	123843719	123843719	+	Silent	SNP	A	A	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr10:123843719A>T	ENST00000369005.1	+	4	2044	c.1704A>T	c.(1702-1704)ggA>ggT	p.G568G	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000453444.2_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	568						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)				CTAAAGAAGGAAGCAGATCAC	0.592000													13	27					0	0	0.004007	0	0
HDAC9	9734	broad.mit.edu	37	7	18687446	18687446	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr7:18687446G>A	ENST00000406451.4	+	10	1215	c.1065G>A	c.(1063-1065)acG>acA	p.T355T	HDAC9_ENST00000417496.2_Silent_p.T353T|HDAC9_ENST00000428307.2_Silent_p.T311T|HDAC9_ENST00000406072.1_Silent_p.T342T|HDAC9_ENST00000524023.1_Silent_p.T278T|HDAC9_ENST00000432645.2_Silent_p.T355T|HDAC9_ENST00000401921.1_Silent_p.T314T|HDAC9_ENST00000441542.2_Silent_p.T358T|HDAC9_ENST00000405010.3_Silent_p.T355T|HDAC9_ENST00000456174.2_Silent_p.T327T	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGTGTGAGACGCAGACGCTTA	0.493000													5	12					0	0	0.001168	0	0
FLT4	2324	broad.mit.edu	37	5	180057599	180057599	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr5:180057599C>T	ENST00000261937.6	-	3	434	c.356G>A	c.(355-357)cGc>cAc	p.R119H	FLT4_ENST00000393347.3_Missense_Mutation_p.R119H|FLT4_ENST00000502649.1_Missense_Mutation_p.R119H|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	119	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCTCGATGCGTGCCTTGAT	0.637000													11	42					0	0	0.001855	0	0
PIK3R2	5296	broad.mit.edu	37	19	18277058	18277058	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:18277058G>A	ENST00000593731.1	+	12	2065	c.1505G>A	c.(1504-1506)aGc>aAc	p.S502N	PIK3R2_ENST00000222254.8_Missense_Mutation_p.S502N			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	502					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GAGAAATGCAGCAAGGAATAC	0.562000													3	49					0	0	0.004672	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39412068	39412068	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:39412068G>A	ENST00000394008.1	+	1	433	c.431G>A	c.(430-432)tGc>tAc	p.C144Y		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	144						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CGCCCCGCCTGCTGTGAGACC	0.612000													7	251					0	0	0.001984	0	0
ASXL1	171023	broad.mit.edu	37	20	31024752	31024752	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:31024752T>G	ENST00000375687.4	+	13	4661	c.4237T>G	c.(4237-4239)Tta>Gta	p.L1413V	ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1413					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTCTGGAAATTACCCCGAGA	0.542000			"""F, N, Mis"""		"""MDS, CMML"""								3	162					0	0	0.000248	0	0
KCNB2	9312	broad.mit.edu	37	8	73849007	73849007	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:73849007G>A	ENST00000523207.1	+	3	2005	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	473					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			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)			TGAGAAGGCCGGAGAGTCCGC	0.527000													28	102					0	0	0.008361	0	0
EPG5	57724	broad.mit.edu	37	18	43497668	43497668	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr18:43497668T>C	ENST00000282041.5	-	17	3249	c.3215A>G	c.(3214-3216)cAg>cGg	p.Q1072R		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1072					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						AAGGTAATACTGGCAAGGGTA	0.428000													45	126					0	0	0.003610	0	0
TRIP10	9322	broad.mit.edu	37	19	6750305	6750305	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:6750305G>A	ENST00000600428.1	+	12	1552	c.906G>A	c.(904-906)gcG>gcA	p.A302A	TRIP10_ENST00000596758.1_Silent_p.A410A|TRIP10_ENST00000313285.8_Silent_p.A410A|TRIP10_ENST00000313244.9_Silent_p.A466A|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	466	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCTCCCAGGCGTGGCTGGCAG	0.667000													30	145					0	0	0.004878	0	0
LRP6	4040	broad.mit.edu	37	12	12397551	12397551	+	Silent	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr12:12397551G>T	ENST00000261349.4	-	2	170	c.94C>A	c.(94-96)Cga>Aga	p.R32R	LRP6_ENST00000543091.1_Silent_p.R32R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	32	Beta-propeller 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.R32*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCAACCAATCGCAAGTCCCGT	0.413000													11	44					0.00244969	0.00353845	0.002450	1	0
BICD2	23299	broad.mit.edu	37	9	95477650	95477650	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr9:95477650G>C	ENST00000356884.6	-	7	2421	c.2354C>G	c.(2353-2355)gCc>gGc	p.A785G	BICD2_ENST00000375512.3_Missense_Mutation_p.A785G	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	785	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCTGGATGGCCATGCGCAG	0.637000													13	16					0	0	0.001368	0	0
ZNF846	162993	broad.mit.edu	37	19	9868372	9868372	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:9868372G>A	ENST00000397902.2	-	6	1794	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTTGTGGAACGAGCAAATGCT	0.433000													13	62					0	0	0.001855	0	0
KDM6A	7403	broad.mit.edu	37	X	44969495	44969495	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:44969495G>A	ENST00000377967.4	+	28	4217		c.e28+1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTTACATTAGTAAGTCAAAT	0.378000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								28	33					0	0	0.003271	0	0
BPTF	2186	broad.mit.edu	37	17	65942002	65942002	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:65942002C>T	ENST00000321892.4	+	23	7617	c.7556C>T	c.(7555-7557)tCa>tTa	p.S2519L	BPTF_ENST00000306378.6_Missense_Mutation_p.S2393L|BPTF_ENST00000335221.5_Missense_Mutation_p.S2519L|BPTF_ENST00000424123.3_Missense_Mutation_p.S2380L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2519					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCCACAGTCACAACCCCAG	0.453000													5	88					0	0	0.001168	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991280	39991280	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:39991280C>T	ENST00000332312.3	-	4	1121	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	310						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCCCAGAGTCGGTGCAGCCG	0.667000													3	19					0	0	0.000248	0	0
ADAM18	8749	broad.mit.edu	37	8	39525629	39525629	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:39525629G>T	ENST00000265707.5	+	14	1484	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V	ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GCATTGAATGGCCGTTTGTGC	0.408000													52	203					2.40265e-35	3.67464e-35	0.003610	1	0
SCN9A	6335	broad.mit.edu	37	2	167089856	167089856	+	Silent	SNP	T	T	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:167089856T>A	ENST00000375387.4	-	21	4261	c.3921A>T	c.(3919-3921)ggA>ggT	p.G1307G	SCN9A_ENST00000409672.1_Silent_p.G1295G|SCN9A_ENST00000409435.1_Silent_p.G1306G|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.G1307G			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1306						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTACCCTCATTCCTTCAAATC	0.343000													4	8					0	0	0.000248	0	0
ADAM18	8749	broad.mit.edu	37	8	39525630	39525630	+	Silent	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:39525630C>T	ENST00000265707.5	+	14	1485	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	ADAM18_ENST00000379866.1_Silent_p.G456G|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTGAATGGCCGTTTGTGCA	0.403000													55	201					0	0	0.003610	0	0
GPKOW	27238	broad.mit.edu	37	X	48973489	48973489	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:48973489G>A	ENST00000156109.5	-	6	886	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	270						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						ACCATGGCCCGAACATTGTCA	0.547000													16	45					0	0	0.008871	0	0
ZNF761	388561	broad.mit.edu	37	19	53958820	53958820	+	RNA	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:53958820T>C	ENST00000454407.1	+	0	1512							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAGAGAAACCTTACAAGTGTA	0.408000													4	241					0	0	0.000602	0	0
RNF220	55182	broad.mit.edu	37	1	44878184	44878184	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr1:44878184G>A	ENST00000355387.2	+	2	865	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	RNF220_ENST00000372247.2_Missense_Mutation_p.A139T|RNF220_ENST00000361799.2_Missense_Mutation_p.A139T			Q5VTB9	RN220_HUMAN	ring finger protein 220	139					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTTTACGCCGGCCAAGCGACT	0.547000													4	118					0	0	0.000248	0	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													7	214					0	0	0.003080	0	0
DFFA	1676	broad.mit.edu	37	1	10523170	10523170	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr1:10523170G>A	ENST00000377038.3	-	5	795	c.728C>T	c.(727-729)aCt>aTt	p.T243I	DFFA_ENST00000377036.2_Missense_Mutation_p.T243I	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	243					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CCTCAGTGCAGTAAGGATGTG	0.577000													4	75					0	0	0.001168	0	0
TCF21	0	broad.mit.edu	37	6	134212927	134212927	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr6:134212927C>G	ENST00000367882.4	+	2	787	c.527C>G	c.(526-528)aCc>aGc	p.T176S	TCF21_ENST00000237316.3_Missense_Mutation_p.T176S|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	176					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)		TTATGTGGAACCACCGCGTCC	0.657000													5	41					0	0	0.001168	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972719	29972719	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chrX:29972719C>T	ENST00000378993.1	+	10	1955	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R428C	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	428	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGAAGAAGAACGTTTTGCCCT	0.353000													23	21					0	0	0.003954	0	0
FRG1B	0	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													4	74					0	0	0.003080	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789258	6789258	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr11:6789258G>A	ENST00000338569.2	-	1	1028	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAATGTGCCAGCAGTATGTAT	0.483000													3	79					0	0	0.004672	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95705500	95705500	+	Silent	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr7:95705500T>C	ENST00000324972.6	+	15	1885	c.1692T>C	c.(1690-1692)aaT>aaC	p.N564N	DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000437599.1_Silent_p.N544N|DYNC1I1_ENST00000537881.1_Silent_p.N527N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000447467.2_Silent_p.N547N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	564					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACCTCAACAATGACACCGAGG	0.642000											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	20					0	0	0.000978	0	0
WHAMMP3	0	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1																						GTGGTTGCCACGGTAACTAAT	0.393000													3	17					0	0	0.004672	0	0
KCNK3	3777	broad.mit.edu	37	2	26950776	26950776	+	Silent	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr2:26950776C>T	ENST00000302909.3	+	2	650	c.525C>T	c.(523-525)gcC>gcT	p.A175A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	175					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCGGCGCCGCCGCCTTCT	0.637000													7	37					0	0	0.003080	0	0
ABCC5	10057	broad.mit.edu	37	3	183667559	183667559	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr3:183667559C>T	ENST00000334444.6	-	22	3449	c.3209G>A	c.(3208-3210)gGg>gAg	p.G1070E	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1070	ABC transmembrane type-1 2.					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)			AAACTCCTGCCCTTTATTGTA	0.562000													11	35					0	0	0.001368	0	0
WHAMMP3	0	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													3	16					0	0	0.004672	0	0
PCF11	51585	broad.mit.edu	37	11	82877716	82877716	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr11:82877716T>A	ENST00000298281.4	+	5	2229	c.1777T>A	c.(1777-1779)Tct>Act	p.S593T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	593					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAGTTCCAAGTCTGCCAAAAG	0.363000													24	72					0	0	0.008361	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72658255	72658255	+	RNA	SNP	A	A	G	rs2539089		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr7:72658255A>G	ENST00000425256.1	-	0	1656																											tcagttttgtaacaagcccgt	0.488000													3	49					0	0	0.004672	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													4	150					0	0	0.000602	0	0
TACC2	10579	broad.mit.edu	37	10	123843719	123843719	+	Silent	SNP	A	A	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr10:123843719A>T	ENST00000369005.1	+	4	2044	c.1704A>T	c.(1702-1704)ggA>ggT	p.G568G	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.G568G|TACC2_ENST00000453444.2_Silent_p.G568G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000515603.1_Silent_p.G568G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	568						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)				CTAAAGAAGGAAGCAGATCAC	0.592000													13	27					0	0	0.004007	0	0
UBE2O	63893	broad.mit.edu	37	17	74396560	74396560	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr17:74396560G>A	ENST00000319380.7	-	7	1030	c.966C>T	c.(964-966)agC>agT	p.S322S		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	322							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AGGGTGGGGGGCTGACGCTGT	0.607000													7	35					0	0	0.006214	0	0
FLT4	2324	broad.mit.edu	37	5	180057599	180057599	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr5:180057599C>T	ENST00000261937.6	-	3	434	c.356G>A	c.(355-357)cGc>cAc	p.R119H	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R119H|FLT4_ENST00000393347.3_Missense_Mutation_p.R119H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	119	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCTCGATGCGTGCCTTGAT	0.637000													11	42					0	0	0.001855	0	0
PIK3R2	5296	broad.mit.edu	37	19	18277058	18277058	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr19:18277058G>A	ENST00000593731.1	+	12	2065	c.1505G>A	c.(1504-1506)aGc>aAc	p.S502N	PIK3R2_ENST00000222254.8_Missense_Mutation_p.S502N			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	502					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GAGAAATGCAGCAAGGAATAC	0.562000													3	49					0	0	0.004672	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175835	40175835	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr17:40175835A>G	ENST00000307641.5	+	4	1121	c.500A>G	c.(499-501)aAg>aGg	p.K167R	NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R|NKIRAS2_ENST00000462043.2_3'UTR	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	167	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				TTGGCCAGCAAGATGACGCAA	0.612000													5	71					0	0	0.000602	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39412068	39412068	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr17:39412068G>A	ENST00000394008.1	+	1	433	c.431G>A	c.(430-432)tGc>tAc	p.C144Y		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	144						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CGCCCCGCCTGCTGTGAGACC	0.612000													7	251					0	0	0.001984	0	0
ASXL1	171023	broad.mit.edu	37	20	31024752	31024752	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr20:31024752T>G	ENST00000375687.4	+	13	4661	c.4237T>G	c.(4237-4239)Tta>Gta	p.L1413V	ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1413					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTCTGGAAATTACCCCGAGA	0.542000			"""F, N, Mis"""		"""MDS, CMML"""								3	162					0	0	0.000248	0	0
KCNB2	9312	broad.mit.edu	37	8	73849007	73849007	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr8:73849007G>A	ENST00000523207.1	+	3	2005	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	473					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			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)			TGAGAAGGCCGGAGAGTCCGC	0.527000													28	102					0	0	0.008361	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		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)		atcaaagaaggaaagaagaag	0.423000													3	53					0	0	0.000602	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13118	13118	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chrM:13118T>G	ENST00000361567.2	+	1	782	c.782T>G	c.(781-783)aTc>aGc	p.I261S				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	261					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CTTCTTACTCATCCGCTTCCA	0.532000													4	1					0	0	0.000248	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													7	216					0	0	0.001984	0	0
TRIP10	9322	broad.mit.edu	37	19	6750305	6750305	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr19:6750305G>A	ENST00000600428.1	+	12	1552	c.906G>A	c.(904-906)gcG>gcA	p.A302A	TRIP10_ENST00000596758.1_Silent_p.A410A|TRIP10_ENST00000313285.8_Silent_p.A410A|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313244.9_Silent_p.A466A			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	466	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCTCCCAGGCGTGGCTGGCAG	0.667000													30	145					0	0	0.004878	0	0
LRP6	4040	broad.mit.edu	37	12	12397551	12397551	+	Silent	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr12:12397551G>T	ENST00000261349.4	-	2	170	c.94C>A	c.(94-96)Cga>Aga	p.R32R	LRP6_ENST00000543091.1_Silent_p.R32R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	32	Beta-propeller 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.R32*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCAACCAATCGCAAGTCCCGT	0.413000													11	44					0.00244969	0.00328363	0.002450	1	0
BICD2	23299	broad.mit.edu	37	9	95477650	95477650	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr9:95477650G>C	ENST00000356884.6	-	7	2421	c.2354C>G	c.(2353-2355)gCc>gGc	p.A785G	BICD2_ENST00000375512.3_Missense_Mutation_p.A785G	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	785	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCTGGATGGCCATGCGCAG	0.637000													13	16					0	0	0.001368	0	0
ZNF846	162993	broad.mit.edu	37	19	9868372	9868372	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr19:9868372G>A	ENST00000397902.2	-	6	1794	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTTGTGGAACGAGCAAATGCT	0.433000													13	62					0	0	0.001855	0	0
KDM6A	7403	broad.mit.edu	37	X	44969495	44969495	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chrX:44969495G>A	ENST00000377967.4	+	28	4217		c.e28+1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTTACATTAGTAAGTCAAAT	0.378000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								28	33					0	0	0.003271	0	0
BPTF	2186	broad.mit.edu	37	17	65942002	65942002	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr17:65942002C>T	ENST00000321892.4	+	23	7617	c.7556C>T	c.(7555-7557)tCa>tTa	p.S2519L	BPTF_ENST00000335221.5_Missense_Mutation_p.S2519L|BPTF_ENST00000306378.6_Missense_Mutation_p.S2393L|BPTF_ENST00000424123.3_Missense_Mutation_p.S2380L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2519					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCCACAGTCACAACCCCAG	0.453000													5	88					0	0	0.001168	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													4	111					0	0	0.000602	0	0
ADAM18	8749	broad.mit.edu	37	8	39525629	39525629	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr8:39525629G>T	ENST00000265707.5	+	14	1484	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V	ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GCATTGAATGGCCGTTTGTGC	0.408000													52	203					2.40265e-35	3.44016e-35	0.003610	1	0
EMILIN3	90187	broad.mit.edu	37	20	39991280	39991280	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr20:39991280C>T	ENST00000332312.3	-	4	1121	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	310						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCCCAGAGTCGGTGCAGCCG	0.667000													3	19					0	0	0.000248	0	0
SCN9A	6335	broad.mit.edu	37	2	167089856	167089856	+	Silent	SNP	T	T	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr2:167089856T>A	ENST00000375387.4	-	21	4261	c.3921A>T	c.(3919-3921)ggA>ggT	p.G1307G	SCN9A_ENST00000409435.1_Silent_p.G1306G|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.G1307G|SCN9A_ENST00000409672.1_Silent_p.G1295G			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1306						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTACCCTCATTCCTTCAAATC	0.343000													4	8					0	0	0.000248	0	0
ADAM18	8749	broad.mit.edu	37	8	39525630	39525630	+	Silent	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr8:39525630C>T	ENST00000265707.5	+	14	1485	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	ADAM18_ENST00000379866.1_Silent_p.G456G|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTGAATGGCCGTTTGTGCA	0.403000													55	201					0	0	0.003610	0	0
GPKOW	27238	broad.mit.edu	37	X	48973489	48973489	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chrX:48973489G>A	ENST00000156109.5	-	6	886	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	270						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						ACCATGGCCCGAACATTGTCA	0.547000													16	45					0	0	0.008871	0	0
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr7:100349878C>T	ENST00000542585.1	+	0	2298				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P717L(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507000													3	71					0	0	0.004672	0	0
EPG5	57724	broad.mit.edu	37	18	43497668	43497668	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr18:43497668T>C	ENST00000282041.5	-	17	3249	c.3215A>G	c.(3214-3216)cAg>cGg	p.Q1072R		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1072					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						AAGGTAATACTGGCAAGGGTA	0.428000													45	126					0	0	0.003610	0	0
SPEN	23013	broad.mit.edu	37	1	16265833	16265834	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:16265833_16265834delGA	ENST00000375759.3	+	15	11110_11111	c.10906_10907delGA	c.(10906-10908)gagfs	p.E3636fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3636	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCTG	0.584													80	347	---	---	---	---					
RP11-325B23.2	0	broad.mit.edu	37	3	98031434	98031434	+	RNA	DEL	A	A	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333													2	4	---	---	---	---					
CCDC88C	440193	broad.mit.edu	37	14	91739301	91739303	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr14:91739301_91739303delCAG	ENST00000389857.6	-	30	5839_5841	c.5753_5755delCTG	c.(5752-5757)gctggc>ggc	p.A1918del	CCDC88C_ENST00000331194.7_In_Frame_Del_p.A442del	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1918					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCCACTGCCAGCAGCAGCAGC	0.690													2	4	---	---	---	---					
TRPM4	54795	broad.mit.edu	37	19	49700013	49700013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:49700013delG	ENST00000252826.5	+	17	2653	c.2527delG	c.(2527-2529)gggfs	p.G844fs	TRPM4_ENST00000355712.5_Frame_Shift_Del_p.G490fs|TRPM4_ENST00000427978.2_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	844					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTCGCCAGCGGGGGCCCCGG	0.697													2	4	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													3	4	---	---	---	---					
COL18A1	80781	broad.mit.edu	37	21	46913428	46913428	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr21:46913428delA	ENST00000359759.4	+	25	3557	c.3536delA	c.(3535-3537)gaafs	p.E1179fs	COL18A1_ENST00000355480.5_Frame_Shift_Del_p.E944fs|COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.E764fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1179	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGAAGGGTGAACCGGGCAGC	0.692													2	4	---	---	---	---					
PARVG	64098	broad.mit.edu	37	22	44581708	44581708	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr22:44581708delC	ENST00000444313.3	+	4	584	c.100delC	c.(100-102)ccafs	p.P35fs	PARVG_ENST00000422871.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000453888.3_3'UTR	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma						cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GAAATACCTGCCACCCACTTC	0.587													10	56	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16265833	16265834	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr1:16265833_16265834delGA	ENST00000375759.3	+	15	11110_11111	c.10906_10907delGA	c.(10906-10908)gagfs	p.E3636fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3636	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCTG	0.584													80	347	---	---	---	---					
HDGFL1	154150	broad.mit.edu	37	6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr6:22570346_22570347insGGC	ENST00000510882.2	+	1	552_553	c.542_543insGGC	c.(541-546)agggcg>agGGCggcg	p.188_189insA	HDGFL1_ENST00000230012.3_In_Frame_Ins_p.188_189insA			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767													3	6	---	---	---	---					
SFMBT2	57713	broad.mit.edu	37	10	7212995	7212997	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr10:7212995_7212997delCTC	ENST00000361972.4	-	20	2527_2529	c.2437_2439delGAG	c.(2437-2439)gagdel	p.E813del	SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	813					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAACCAGTCTCTCCTCCTCCTCC	0.596													7	273	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121125148	121125150	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr12:121125148_121125150delCTG	ENST00000228506.3	+	1	477_479	c.49_51delCTG	c.(49-51)ctgdel	p.L22del	MLEC_ENST00000412616.2_In_Frame_Del_p.L22del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	22					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gctcctgcgactgctgctgctgc	0.783													2	4	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493762	77493767	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr14:77493762_77493767delTGCTGC	ENST00000238647.3	-	1	1267_1272	c.369_374delGCAGCA	c.(367-375)cagcagcaa>caa	p.123_125QQQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	123	Poly-Gln.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GAgctgttgttgctgctgctgctgct	0.714													6	1	---	---	---	---					
CCDC88C	440193	broad.mit.edu	37	14	91739301	91739303	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr14:91739301_91739303delCAG	ENST00000389857.6	-	30	5839_5841	c.5753_5755delCTG	c.(5752-5757)gctggc>ggc	p.A1918del	CCDC88C_ENST00000331194.7_In_Frame_Del_p.A442del	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1918					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCCACTGCCAGCAGCAGCAGC	0.690													2	4	---	---	---	---					
ZFP90	146198	broad.mit.edu	37	16	68598462	68598463	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr16:68598462_68598463insA	ENST00000570495.1	+	5	2064_2065	c.1772_1773insA	c.(1771-1776)cgaaaafs	p.RK591fs	ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.RK591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.RK591fs			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	591					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGAGCCTTCCGAAAAAAAACCA	0.411													9	300	---	---	---	---					
RP13-516M14.2	0	broad.mit.edu	37	17	80173535	80173535	+	RNA	DEL	C	C	-	rs112012232		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr17:80173535delC	ENST00000581303.1	+	0	1371																											tccttccctgccccccacact	0.701													4	8	---	---	---	---					
TRPM4	54795	broad.mit.edu	37	19	49700013	49700013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr19:49700013delG	ENST00000252826.5	+	17	2653	c.2527delG	c.(2527-2529)gggfs	p.G844fs	TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Frame_Shift_Del_p.G490fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	844					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTCGCCAGCGGGGGCCCCGG	0.697													2	4	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													3	4	---	---	---	---					
COL18A1	80781	broad.mit.edu	37	21	46913428	46913428	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr21:46913428delA	ENST00000359759.4	+	25	3557	c.3536delA	c.(3535-3537)gaafs	p.E1179fs	COL18A1_ENST00000400337.2_Frame_Shift_Del_p.E764fs|COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.E944fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1179	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGAAGGGTGAACCGGGCAGC	0.692													2	4	---	---	---	---					
PARVG	64098	broad.mit.edu	37	22	44581708	44581708	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr22:44581708delC	ENST00000444313.3	+	4	584	c.100delC	c.(100-102)ccafs	p.P35fs	PARVG_ENST00000422871.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000453888.3_3'UTR	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma						cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GAAATACCTGCCACCCACTTC	0.587													10	56	---	---	---	---					
