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
HECTD1	25831	broad.mit.edu	37	14	31576011	31576011	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:31576011C>T	ENST00000399332.1	-	38	7555	c.7067G>A	c.(7066-7068)aGa>aAa	p.R2356K	HECTD1_ENST00000553700.1_Missense_Mutation_p.R2356K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2356	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.R2356K(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAATCTGGCTCTGTGTGGGTT	0.358000													11	71					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55405910	55405910	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:55405910T>C	ENST00000314612.2	+	1	77	c.77T>C	c.(76-78)tTt>tCt	p.F26S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GTCCTCTGCTTTGTATTATTT	0.353000													98	239					0	0	1	0	0
PISD	23761	broad.mit.edu	37	22	32058162	32058162	+	Silent	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr22:32058162T>C	ENST00000439502.2	-	1	256	c.33A>G	c.(31-33)ggA>ggG	p.G11G	PISD_ENST00000336566.4_Silent_p.G11G			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	11					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	p.G11G(1)		central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	CGTGCAGTAATCCCAGACATC	0.652000											OREG0003531	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	55					0	0	1	0	0
PRELP	5549	broad.mit.edu	37	1	203452939	203452939	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:203452939C>T	ENST00000343110.2	+	2	754	c.627C>T	c.(625-627)gaC>gaT	p.D209D		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	209					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.D209D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GGCTGAGCGACGGCGTCTTCA	0.597000													38	230					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2355779	2355779	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:2355779C>A	ENST00000290974.2	-	2	400	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	ZFYVE28_ENST00000515312.1_5'UTR|ZFYVE28_ENST00000515169.1_5'UTR|ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A21S|ZFYVE28_ENST00000503000.1_Missense_Mutation_p.A21S	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	21					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TAGAACCGGGCAAGCAGCTGC	0.672000													3	10					0.115264	0.117845	1	1	0
BMPR2	659	broad.mit.edu	37	2	203421005	203421005	+	Nonsense_Mutation	SNP	C	C	T	rs137852748		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:203421005C>T	ENST00000374580.4	+	12	3156	c.2617C>T	c.(2617-2619)Cga>Tga	p.R873*	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	873					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	p.R873*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TTTACTGAGACGAGAGCAACA	0.478000													44	219					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:52864001A>G	ENST00000451298.1	-	0	168				RP11-64P12.8_ENST00000606031.1_RNA																							GAAAAAATAAAGCAATAGCTA	0.313000													3	52					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26509395	26509395	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:26509395C>T	ENST00000244513.6	+	7	1640	c.1574C>T	c.(1573-1575)gCa>gTa	p.A525V		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	525						extracellular region|integral to plasma membrane	receptor activity	p.A525V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGCCAAGGGGCACCTTAAGGA	0.522000													46	143					0	0	1	0	0
OR10G3	26533	broad.mit.edu	37	14	22038847	22038847	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:22038847G>A	ENST00000303532.1	-	1	28	c.29C>T	c.(28-30)aCt>aTt	p.T10I		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GATAAACGCAGTCAACAGTGT	0.423000													3	96					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155491017	155491017	+	Silent	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:155491017T>C	ENST00000368346.3	-	2	933	c.294A>G	c.(292-294)aaA>aaG	p.K98K	ASH1L_ENST00000392403.3_Silent_p.K98K|ASH1L_ENST00000548830.1_Silent_p.K98K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	98					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.K98K(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTTTGGAGGTTTTTTAGTTC	0.373000													200	229					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16509021	16509021	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:16509021A>C	ENST00000354981.2	-	2	269	c.112T>G	c.(112-114)Tta>Gta	p.L38V	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.L38V|KIF16B_ENST00000355755.3_Missense_Mutation_p.L38V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	38	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.L38V(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTTGCCTTTAAGTTTGTGATT	0.408000													37	92					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17294420	17294420	+	Silent	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:17294420G>A	ENST00000261381.6	-	4	1089	c.1005C>T	c.(1003-1005)caC>caT	p.H335H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	335					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.H335Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGCACGGCCGTGGACCACCA	0.567000													4	463					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086069	92086069	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:92086069C>G	ENST00000298047.6	+	1	808	c.791C>G	c.(790-792)cCa>cGa	p.P264R	FAT3_ENST00000409404.2_Missense_Mutation_p.P264R|FAT3_ENST00000541502.1_Missense_Mutation_p.P264R|FAT3_ENST00000525166.1_Missense_Mutation_p.P114R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	264	Cadherin 2.|Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACATGCCCCAACAATCCAT	0.443000										TCGA Ovarian(4;0.039)			5	285					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368771	22368771	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:22368771C>G	ENST00000332663.2	+	1	294	c.196C>G	c.(196-198)Ctg>Gtg	p.L66V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GTTGGCTAATCTGGCCTTCCT	0.408000													5	710					0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7360264	7360264	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:7360264T>G	ENST00000266563.5	+	10	1048	c.865T>G	c.(865-867)Ttt>Gtt	p.F289V	PEX5_ENST00000412720.2_Missense_Mutation_p.F347V|PEX5_ENST00000266564.3_Missense_Mutation_p.F318V|PEX5_ENST00000434354.2_Missense_Mutation_p.F341V|PEX5_ENST00000420616.2_Missense_Mutation_p.F326V|PEX5_ENST00000455147.2_Missense_Mutation_p.F326V	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	326					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	p.F318V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GGGGTACCAGTTTGAGGAGGA	0.557000													64	125					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30357718	30357718	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:30357718T>G	ENST00000327564.7	+	4	2009	c.1948T>G	c.(1948-1950)Ttt>Gtt	p.F650V	LRRC37B_ENST00000341671.7_Missense_Mutation_p.F623V|LRRC37B_ENST00000543378.2_Missense_Mutation_p.F541V|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000584368.1_Intron			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	623						integral to membrane		p.F623V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AAGACAAACATTTGAATCACT	0.254000													4	13					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117962899	117962899	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:117962899C>A	ENST00000425217.1	-	14	1944	c.1890G>T	c.(1888-1890)tgG>tgT	p.W630C	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.W659C|KSR2_ENST00000302438.5_Missense_Mutation_p.W356C	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	659					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGGGATGTCCCACTCCTGAA	0.617000													4	122					0.014758	0.0154339	1	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	63					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42915969	42915969	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:42915969A>T	ENST00000316161.4	-	1	1664	c.1340T>A	c.(1339-1341)cTc>cAc	p.L447H	ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L447H	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	447					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	p.L447H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CACCTCACTGAGTGCAAAGAA	0.542000													55	68					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													4	283					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	110					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662870	227662870	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:227662870C>T	ENST00000305123.4	-	1	1605	c.585G>A	c.(583-585)gtG>gtA	p.V195V		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	195	IRS-type PTB.				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	p.V195V(1)		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)		AGTTCAGCTTCACGAAGCTGA	0.567000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	23					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44858475	44858475	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:44858475C>T	ENST00000261866.7	-	37	6799	c.6783G>A	c.(6781-6783)ctG>ctA	p.L2261L	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Silent_p.L2148L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2261					cell death	cytosol|integral to membrane|nucleus	protein binding	p.L2261L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCAGTTGTTTCAGCTGGTGCC	0.502000													17	50					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176622807	176622807	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:176622807G>A	ENST00000280187.7	-	3	194	c.149C>T	c.(148-150)gCg>gTg	p.A50V	GPM6A_ENST00000515090.1_Missense_Mutation_p.A43V|GPM6A_ENST00000393658.2_Missense_Mutation_p.A50V|GPM6A_ENST00000506894.1_Missense_Mutation_p.A39V	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	50						cell surface|integral to membrane		p.A50V(3)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCCAGAAAGCGCTTCATGACC	0.488000													68	267					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155473515	155473515	+	Silent	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:155473515A>T	ENST00000401878.3	+	5	678	c.480A>T	c.(478-480)atA>atT	p.I160I	RBM33_ENST00000392759.3_Silent_p.I160I|RBM33_ENST00000287912.3_Silent_p.I160I	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	160	Glu-rich.						nucleotide binding|RNA binding	p.I160I(3)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AAGACCAAATAGAATATGTGG	0.403000													24	96					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322782	4322782	+	Silent	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:4322782G>A	ENST00000337872.4	+	8	2158	c.2037G>A	c.(2035-2037)aaG>aaA	p.K679K	ZBTB49_ENST00000538529.1_Silent_p.K162K|ZBTB49_ENST00000355834.3_Silent_p.K557K	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	679					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						AACTTGCCAAGCCCCAGATGC	0.567000													3	73					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012465	29012465	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:29012465C>A	ENST00000282397.4	-	4	657	c.406G>T	c.(406-408)Gta>Tta	p.V136L	FLT1_ENST00000541932.1_Missense_Mutation_p.V136L|FLT1_ENST00000539099.1_Missense_Mutation_p.V136L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	136					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TACATCTCTACGAAAGGTCTA	0.398000													3	92					0.115264	0.117845	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20215690	20215690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:20215690A>T	ENST00000331723.1	+	1	104	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTTTTTTACATTGCTATT	0.378000													6	548					0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6636691	6636691	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:6636691G>T	ENST00000533371.1	-	9	1317	c.519C>A	c.(517-519)ttC>ttA	p.F173L	TPP1_ENST00000299427.6_Missense_Mutation_p.F416L			O14773	TPP1_HUMAN	tripeptidyl peptidase I	416					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AAGGCCGTGGGAACACATTGC	0.517000													4	71					2.56e-06	2.78349e-06	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52651419	52651419	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:52651419A>T	ENST00000356770.4	-	13	1583	c.1581T>A	c.(1579-1581)taT>taA	p.Y527*	PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Y574*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Y574*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Y559*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.Y559*			Q86U86	PB1_HUMAN	polybromo 1	559					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.Y559*(2)|p.Y527*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGATGATTTTATAATAATCAG	0.378000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								29	51					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													4	142					0	0	1	0	0
TAPBPL	55080	broad.mit.edu	37	12	6571287	6571287	+	Missense_Mutation	SNP	G	G	A	rs141838188	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:6571287G>A	ENST00000266556.7	+	7	1544	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	460					antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane		p.R460H(1)		endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CATGAAGACCGCACAGCGCGT	0.557000													3	26					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913440	6913440	+	Missense_Mutation	SNP	C	C	T	rs151328039	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:6913440C>T	ENST00000299459.2	-	1	390	c.292G>A	c.(292-294)Gca>Aca	p.A98T		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTCGAGCTGCGCAAAGTGTG	0.483000													4	308					0	0	1	0	0
MT1E	4493	broad.mit.edu	37	16	56660686	56660686	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:56660686A>G	ENST00000330439.6	+	2	391	c.337A>G	c.(337-339)Agc>Ggc	p.S113G	MT1E_ENST00000306061.6_Intron|MT1E_ENST00000568293.1_Intron			P04732	MT1E_HUMAN	metallothionein 1E	0						cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										GACGAAAAAAAGCATCCTCTG	0.542000													6	12					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	99049685	99049685	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:99049685C>A	ENST00000295268.3	-	3	370	c.281G>T	c.(280-282)tGt>tTt	p.C94F		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.C94F(1)									TGACTTTCCACAAGAAGGAAT	0.348000													9	56					3.86212e-05	4.16622e-05	1	1	0
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:52864028C>T	ENST00000451298.1	-	0	141				RP11-64P12.8_ENST00000606031.1_RNA																							TAGAATGATACTCCAAAGGAA	0.313000													3	60					0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850384	3850384	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:3850384C>T	ENST00000380274.1	+	1	765	c.339C>T	c.(337-339)cgC>cgT	p.R113R	FAM50B_ENST00000380272.3_Silent_p.R113R			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	113						nucleus		p.R113R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				ggcGCGAGCGCAAGCGTAAGA	0.701000													3	9					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323912	152323912	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:152323912A>C	ENST00000388718.5	-	3	6422	c.6350T>G	c.(6349-6351)gTc>gGc	p.V2117G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2117							calcium ion binding|structural molecule activity	p.V2117G(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTGTGAGACCCCTGAGTG	0.532000													7	931					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32405233	32405233	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr18:32405233A>T	ENST00000283365.9	+	11	1355	c.1004A>T	c.(1003-1005)gAt>gTt	p.D335V	DTNA_ENST00000597674.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000598774.1_Missense_Mutation_p.D335V|DTNA_ENST00000554864.3_Intron|DTNA_ENST00000598142.1_Missense_Mutation_p.D335V|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000399113.3_Missense_Mutation_p.D335V|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000315456.6_Missense_Mutation_p.D335V|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000444659.1_Missense_Mutation_p.D335V|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.D335V	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	335					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.D335V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCCAAAAGTGATACTTGGTAA	0.348000													47	101					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841499	100841499	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:100841499C>G	ENST00000223114.4	-	5	807	c.641G>C	c.(640-642)gGc>gCc	p.G214A	MOGAT3_ENST00000379423.3_Missense_Mutation_p.G214A|MOGAT3_ENST00000440203.2_Missense_Mutation_p.G214A	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	214					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGCACGAAGCCTTTGCGCTT	0.647000													10	51					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44816791	44816791	+	Silent	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:44816791T>C	ENST00000326047.4	+	3	257	c.108T>C	c.(106-108)ccT>ccC	p.P36P		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	36	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.P36P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTCGTCCTCCTGCAGAAAGAT	0.438000													52	93					0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43257753	43257753	+	Silent	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:43257753G>A	ENST00000372874.4	-	3	287	c.153C>T	c.(151-153)ggC>ggT	p.G51G	ADA_ENST00000537820.1_Silent_p.G51G	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	51					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GCTTGTCCATGCCAATGACGT	0.587000									Adenosine Deaminase Deficiency				4	70					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8813220	8813220	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr18:8813220A>G	ENST00000359865.3	+	12	2990	c.2848A>G	c.(2848-2850)Agg>Ggg	p.R950G	SOGA2_ENST00000517570.1_Missense_Mutation_p.R909G|SOGA2_ENST00000518815.1_Missense_Mutation_p.R303G|SOGA2_ENST00000400050.3_Missense_Mutation_p.R909G|SOGA2_ENST00000306329.11_Missense_Mutation_p.R1269G|SOGA2_ENST00000306285.7_Missense_Mutation_p.R303G	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1260																	ATTCTTGTGGAGGATAGAGCA	0.567000													2	20					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32156550	32156550	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:32156550C>T	ENST00000375050.4	-	2	515	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	82							transcription factor binding	p.R82Q(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						AGGCTTCATTCGGTGGCAGTT	0.537000													25	105					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99448880	99448880	+	Silent	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:99448880G>A	ENST00000397899.2	-	5	802	c.471C>T	c.(469-471)gaC>gaT	p.D157D	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like									p.D157D(2)									GCAGCCCGTCGTCCTCAGAGC	0.587000													10	55					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929783	121929783	+	Missense_Mutation	SNP	C	C	T	rs145920249		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr9:121929783C>T	ENST00000265922.3	-	8	2326	c.1865G>A	c.(1864-1866)cGg>cAg	p.R622Q	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		622					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TAGCCGAGTCCGACTACGTAG	0.532000													3	151					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72959394	72959394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:72959394G>A	ENST00000262209.4	-	16	2161	c.1954C>T	c.(1954-1956)Cga>Tga	p.R652*	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	652						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TAATAGTCTCGGCAGGACTTG	0.284000													3	87					0	0	1	0	0
BECN1	8678	broad.mit.edu	37	17	40970428	40970428	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:40970428C>A	ENST00000361523.4	-	7	626	c.494G>T	c.(493-495)tGt>tTt	p.C165F	BECN1_ENST00000590099.1_Missense_Mutation_p.C165F|BECN1_ENST00000438274.3_Missense_Mutation_p.C89F	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	165					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	p.C165F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GATCTCCAAACAGCGTCTGCC	0.502000													37	126					2.59497e-14	2.98749e-14	1	1	0
FASTKD1	79675	broad.mit.edu	37	2	170416921	170416921	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:170416921A>G	ENST00000453153.2	-	5	1293	c.947T>C	c.(946-948)aTt>aCt	p.I316T	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I316T	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	316					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.I316T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AGGTCCTGCAATGGGTCCCAA	0.358000													62	135					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169787307	169787307	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:169787307C>T	ENST00000263817.6	-	25	3403	c.3279G>A	c.(3277-3279)tcG>tcA	p.S1093S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1093	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.S1093S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCAGAACTTGCGAGTCAGGTC	0.458000													4	68					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308258	140308258	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:140308258C>T	ENST00000253807.2	+	1	1781	c.1781C>T	c.(1780-1782)gCc>gTc	p.A594V	PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A594V|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTCTAATGCCTGGCTTTCC	0.507000													4	154					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93761005	93761005	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:93761005C>A	ENST00000334746.5	-	3	668	c.361G>T	c.(361-363)Gct>Tct	p.A121S	BTBD7_ENST00000298896.3_Missense_Mutation_p.A121S|BTBD7_ENST00000555525.1_Missense_Mutation_p.A121S|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	121								p.A121S(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCTGGTCTAGCCAAACTGGCT	0.408000													8	44					2.61681e-11	2.96284e-11	1	1	0
CFI	3426	broad.mit.edu	37	4	110667432	110667432	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:110667432A>G	ENST00000394634.2	-	11	1582	c.1375T>C	c.(1375-1377)Tac>Cac	p.Y459H	CFI_ENST00000394635.3_Missense_Mutation_p.Y467H|CFI_ENST00000512148.1_Missense_Mutation_p.Y452H	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	459	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGGAATAGGTAAGGAGACCAG	0.413000													3	119					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42820894	42820894	+	Splice_Site	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:42820894T>C	ENST00000598766.1	+	10	878		c.e10+2		TMEM145_ENST00000301204.3_Splice_Site			Q8NBT3	TM145_HUMAN	transmembrane protein 145							integral to membrane		p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GGTGACACGGTGCCCGGGCAG	0.682000													66	139					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43513701	43513701	+	Silent	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:43513701C>A	ENST00000039989.4	+	23	3296	c.3282C>A	c.(3280-3282)gtC>gtA	p.V1094V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1094							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TGGGCAATGTCTACGTGGCAA	0.483000													5	430					0.248553	0.25038	1	1	0
ABLIM1	3983	broad.mit.edu	37	10	116201492	116201492	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:116201492C>A	ENST00000533213.2	-	18	2108	c.1807G>T	c.(1807-1809)Ggg>Tgg	p.G603W	ABLIM1_ENST00000277895.5_Missense_Mutation_p.G663W|ABLIM1_ENST00000369266.3_Missense_Mutation_p.G340W|ABLIM1_ENST00000369253.2_Missense_Mutation_p.G286W|ABLIM1_ENST00000392952.3_Missense_Mutation_p.G340W|ABLIM1_ENST00000369252.4_Missense_Mutation_p.G603W			O14639	ABLM1_HUMAN	actin binding LIM protein 1	663					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	p.G340W(1)|p.G663W(1)|p.G603W(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CGGTGAAGCCCATTTCTTCCA	0.428000													18	104					8.34094e-07	9.14167e-07	1	1	0
TTC17	55761	broad.mit.edu	37	11	43429097	43429097	+	Silent	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:43429097A>G	ENST00000039989.4	+	15	2048	c.2034A>G	c.(2032-2034)ctA>ctG	p.L678L	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.L678L	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	678							binding	p.L678L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTAAGCTGCTACTTCAAGCTT	0.388000													33	67					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115117393	115117393	+	Silent	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:115117393A>G	ENST00000349155.2	-	3	1684	c.721T>C	c.(721-723)Ttg>Ctg	p.L241L	TBX3_ENST00000257566.3_Silent_p.L261L	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	261					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.L261L(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGGAGTTTCAAGATGTCATTG	0.438000													60	368					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18636763	18636763	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:18636763G>A	ENST00000336349.5	-	3	1293	c.1058C>T	c.(1057-1059)cCt>cTt	p.P353L		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	353	Ser-rich.							p.P353L(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CATGGGCCCAGGCCTGGAATG	0.557000													73	164					0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17067943	17067943	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:17067943C>T	ENST00000262096.8	+	10	1599	c.904C>T	c.(904-906)Cct>Tct	p.P302S		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	302						integral to membrane	acyltransferase activity|zinc ion binding	p.P302S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TAACCAGGATCCTGAACAAGC	0.343000													9	52					0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	69255287	69255287	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:69255287G>T	ENST00000374552.4	+	8	1246	c.1004G>T	c.(1003-1005)aGc>aTc	p.S335I	EDA_ENST00000524573.1_Missense_Mutation_p.S330I|EDA_ENST00000374553.2_Missense_Mutation_p.S333I	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	335					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	p.S335I(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TGCACACGCAGCATCGAGACG	0.547000													10	9					0.000673444	0.000709706	1	1	0
ZNF18	7566	broad.mit.edu	37	17	11895959	11895959	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:11895959C>T	ENST00000322748.3	-	4	792	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	ZNF18_ENST00000454073.3_Missense_Mutation_p.R63Q|ZNF18_ENST00000580613.1_Missense_Mutation_p.R12Q|ZNF18_ENST00000580306.1_Missense_Mutation_p.R63Q	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	63	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ACAGAGCTTCCGAAGTTGCTT	0.542000													3	98					0	0	1	0	0
FAF2	23197	broad.mit.edu	37	5	175923576	175923576	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:175923576G>A	ENST00000261942.6	+	8	804	c.751G>A	c.(751-753)Ggc>Agc	p.G251S		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	251					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ACGGCTAGAAGGCCTCATTCA	0.463000													6	272					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													4	287					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49580152	49580152	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:49580152C>T	ENST00000301071.7	-	3	660	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	TUBA1A_ENST00000546918.1_Silent_p.E156E|TUBA1A_ENST00000295766.5_Missense_Mutation_p.G106R|TUBA1A_ENST00000550767.1_Missense_Mutation_p.G71R	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	106					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						GTGTAGTGCCCTCGGGCATAG	0.463000													4	358					0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63509694	63509694	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:63509694G>T	ENST00000389100.4	+	4	613	c.541G>T	c.(541-543)Gca>Tca	p.A181S	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.A181S	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	181						integral to membrane|nuclear envelope	zinc ion binding	p.A181S(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ATTAACAGAAGCACTCTGCCT	0.443000													29	138					9.80776e-20	1.1387e-19	1	1	0
NYX	60506	broad.mit.edu	37	X	41307152	41307152	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:41307152C>T	ENST00000342595.2	+	1	466	c.10C>T	c.(10-12)Cga>Tga	p.R4*	NYX_ENST00000378220.1_Nonsense_Mutation_p.R4*	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	4					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		p.R4*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GATGAAAGGCCGAGGGATGTT	0.617000													11	5					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905190	144905190	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:144905190A>G	ENST00000370490.1	+	1	5502	c.1247A>G	c.(1246-1248)gAa>gGa	p.E416G	SLITRK2_ENST00000428560.2_Missense_Mutation_p.E416G|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E416G|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E416G|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E416G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	416						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATTCAGGAAGGTGCCTTT	0.413000													5	95					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													5	137					0	0	1	0	0
MS4A7	58475	broad.mit.edu	37	11	60150630	60150630	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:60150630C>A	ENST00000358246.1	+	2	209	c.16C>A	c.(16-18)Caa>Aaa	p.Q6K	MS4A7_ENST00000300184.3_Missense_Mutation_p.Q6K|MS4A7_ENST00000534016.1_Missense_Mutation_p.Q6K|MS4A7_ENST00000530234.2_Missense_Mutation_p.Q6K|MS4A14_ENST00000531787.1_Intron	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	6						integral to membrane	receptor activity	p.Q6K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ATTACAATCCCAAACCATGGG	0.443000													80	193					8.06533e-24	9.44402e-24	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181453021	181453021	+	Silent	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:181453021G>A	ENST00000526775.1	+	1	306	c.141G>A	c.(139-141)gcG>gcA	p.A47A	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Silent_p.A47A|CACNA1E_ENST00000367570.1_Silent_p.A47A|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000360108.3_Silent_p.A47A	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	47					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACAGAGGGCGCGGACTATGG	0.592000													4	156					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77835374	77835374	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:77835374A>T	ENST00000407578.2	-	12	2050	c.1784T>A	c.(1783-1785)cTt>cAt	p.L595H	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L557H|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L557H	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.L557H(2)|p.L595H(1)		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)		TGCAACTAAAAGGGCGTGAGA	0.403000													30	127					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89657453	89657453	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:89657453C>A	ENST00000268720.5	+	14	1510	c.1380C>A	c.(1378-1380)gaC>gaA	p.D460E	CPNE7_ENST00000319518.8_Missense_Mutation_p.D385E	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	460	VWFA.				lipid metabolic process		transporter activity	p.D460E(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		ACCCTGAGGACGATGAGTGTG	0.637000													3	10					0.115264	0.117845	1	1	0
JAG1	182	broad.mit.edu	37	20	10620283	10620283	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:10620283G>T	ENST00000254958.5	-	26	4035	c.3520C>A	c.(3520-3522)Ccg>Acg	p.P1174T	JAG1_ENST00000423891.2_Missense_Mutation_p.P1015T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1174					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GTGTACGCCGGCTGCTTGGCA	0.493000									Alagille Syndrome				4	176					0.184627	0.187363	1	1	0
NETO1	81832	broad.mit.edu	37	18	70417575	70417575	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr18:70417575C>T	ENST00000327305.6	-	9	1920	c.1263G>A	c.(1261-1263)cgG>cgA	p.R421R	NETO1_ENST00000299430.2_Silent_p.R420R|NETO1_ENST00000583169.1_Silent_p.R421R	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	421					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.R421R(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AAGATGACCTCCGCAGTTTAT	0.463000													41	44					0	0	1	0	0
NREP	9315	broad.mit.edu	37	5	111091557	111091557	+	Translation_Start_Site	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:111091557C>T	ENST00000447165.2	-	0	391				NREP_ENST00000453526.2_Intron|NREP_ENST00000446294.2_Intron|NREP_ENST00000509979.1_Intron|NREP_ENST00000419114.2_Intron|NREP_ENST00000257435.7_Intron|NREP_ENST00000455559.2_Intron|NREP_ENST00000508870.1_De_novo_Start_OutOfFrame|NREP_ENST00000379671.3_Intron|NREP_ENST00000509427.1_Intron|NREP_ENST00000507742.1_Intron|NREP_ENST00000450761.2_Intron|NREP_ENST00000509025.1_Intron|NREP_ENST00000515855.1_Intron|NREP_ENST00000395634.3_Intron	NM_001142483.1	NP_001135955.1	Q16612	NP311_HUMAN	neuronal regeneration related protein							cytoplasm											ACAGTAGACACATCGCCTCAC	0.393000													3	48					0	0	1	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170012	107170012	+	RNA	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:107170012G>A	ENST00000390633.2	-	0	330																											ATTTGTCCGCGGTAATCGTGA	0.547000													4	462					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45810629	45810629	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:45810629A>G	ENST00000320560.8	+	17	2361	c.2159A>G	c.(2158-2160)gAc>gGc	p.D720G	ANO6_ENST00000425752.2_Missense_Mutation_p.D720G|ANO6_ENST00000423947.3_Missense_Mutation_p.D741G|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.D720G|ANO6_ENST00000441606.2_Missense_Mutation_p.D702G	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	720					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.D720G(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAAGCCCAAGACATTGGAGCA	0.478000													51	96					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60789779	60789779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:60789779G>A	ENST00000335670.6	-	11	1547	c.1447C>T	c.(1447-1449)Cga>Tga	p.R483*	RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000449337.2_Nonsense_Mutation_p.R428*|RORA_ENST00000309157.4_Nonsense_Mutation_p.R508*|RORA_ENST00000261523.5_Nonsense_Mutation_p.R516*	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	516	Ligand-binding.				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	p.R483*(1)|p.R516*(1)|p.R508*(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCTGTATGTCGTCCACATAAG	0.398000													12	92					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356025	42356025	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:42356025T>G	ENST00000554171.1	+	5	2629	c.197T>G	c.(196-198)aTt>aGt	p.I66S	LRFN5_ENST00000298119.4_Missense_Mutation_p.I66S|LRFN5_ENST00000554120.1_Missense_Mutation_p.I66S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	66						integral to membrane		p.I66S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTTACAAATATTAAAAGGAAA	0.403000										HNSCC(30;0.082)			5	32					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233386509	233386509	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:233386509T>C	ENST00000258229.8	-	8	2432	c.2198A>G	c.(2197-2199)aAt>aGt	p.N733S	PCNXL2_ENST00000430153.1_Missense_Mutation_p.N32S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	733						integral to membrane		p.N733S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACAGTCATTATTTGATGGTAG	0.413000													7	16					0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48195543	48195543	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:48195543C>T	ENST00000330175.4	-	3	509	c.192G>A	c.(190-192)tcG>tcA	p.S64S	SAMD14_ENST00000503131.1_Silent_p.S64S|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	64								p.S64S(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CGGGCCCATCCGAGCCTTCAC	0.637000													27	66					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20162080	20162080	+	Silent	SNP	G	G	A	rs142103808		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:20162080G>A	ENST00000345530.3	-	11	1318	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	WDR35_ENST00000281405.4_Intron|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	401								p.N401N(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCATCTCGTTCTCCTCCT	0.333000													26	107					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25272913	25272913	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:25272913C>T	ENST00000218548.6	+	12	1981	c.1648C>T	c.(1648-1650)Cca>Tca	p.P550S	ATP12A_ENST00000381946.3_Missense_Mutation_p.P544S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	544					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.P544S(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CGAGGAGCACCCACTGGACAA	0.637000													25	109					0	0	1	0	0
METTL5	29081	broad.mit.edu	37	2	170668861	170668861	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:170668861T>C	ENST00000410097.1	-	7	832	c.697A>G	c.(697-699)Aga>Gga	p.R233G	METTL5_ENST00000260953.5_Intron|METTL5_ENST00000409965.1_Intron|METTL5_ENST00000409837.1_Intron|METTL5_ENST00000409340.1_Intron|METTL5_ENST00000308099.3_Intron|METTL5_ENST00000392640.2_Intron			Q9NRN9	METL5_HUMAN	methyltransferase like 5	0							methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						agcgattctcttgcctcagcc	0.517000													3	60					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520557	33520557	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:33520557C>T	ENST00000297307.5	-	1	855	c.770G>A	c.(769-771)gGg>gAg	p.G257E		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	257						integral to membrane		p.G257E(1)									CCCCACTGCCCCCACACAACT	0.627000													48	80					0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47906545	47906545	+	Silent	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr18:47906545C>A	ENST00000285116.3	+	3	349	c.138C>A	c.(136-138)atC>atA	p.I46I	SKA1_ENST00000398452.2_Silent_p.I46I|SKA1_ENST00000488454.1_Intron|SKA1_ENST00000417656.2_Silent_p.I46I	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	46					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	p.I46I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						GAGATGAGATCATTGTAATAA	0.294000													37	53					6.70999e-13	7.66057e-13	1	1	0
DNAJC18	202052	broad.mit.edu	37	5	138761998	138761998	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:138761998C>A	ENST00000302060.5	-	4	502	c.422G>T	c.(421-423)cGc>cTc	p.R141L		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	141	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCATCATAGCGAAGTCTCTT	0.453000													5	260					1	1	1	1	0
TNRC18	84629	broad.mit.edu	37	7	5391579	5391579	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:5391579C>A	ENST00000399537.4	-	17	5689	c.5341G>T	c.(5341-5343)Ggc>Tgc	p.G1781C	TNRC18_ENST00000430969.1_Missense_Mutation_p.G1781C			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1781							DNA binding	p.R1780_G1781>SC(2)|p.G1781C(2)|p.G836C(1)|p.R835_G836>SC(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCGCCAGGCCCCTCTTGGTC	0.647000													22	57					1.9806e-07	2.18824e-07	1	1	0
PCDHGA11	56105	broad.mit.edu	37	5	140802703	140802703	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:140802703G>C	ENST00000398587.2	+	1	1942	c.1909G>C	c.(1909-1911)Gac>Cac	p.D637H	PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.D637H(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACAGAGACGCGCTCAA	0.697000													7	33					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538014	27538014	+	RNA	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:27538014G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TTCTAGTTCAGTAGGTGGACC	0.502000													56	109					4.17463e-26	4.93038e-26	1	1	0
FUT6	2528	broad.mit.edu	37	19	5832203	5832203	+	Missense_Mutation	SNP	G	G	A	rs111589452		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:5832203G>A	ENST00000318336.4	-	3	1570	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	FUT6_ENST00000286955.5_Missense_Mutation_p.R126W|FUT6_ENST00000527106.1_Missense_Mutation_p.R126W|FUT6_ENST00000592563.1_Missense_Mutation_p.R126W|FUT6_ENST00000524754.1_Missense_Mutation_p.R126W	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	126					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	p.R126W(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGCCCCTGCCGCCTCGGGGAG	0.617000													4	41					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128621065	128621065	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:128621065C>A	ENST00000371122.4	-	17	2276	c.2147G>T	c.(2146-2148)aGa>aTa	p.R716I	SMARCA1_ENST00000371123.1_Missense_Mutation_p.R704I|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R704I	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	716					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCTAAAATTTCTTAGAGAAGA	0.323000													4	52					0.000602214	0.000639561	1	1	0
PLA2G7	7941	broad.mit.edu	37	6	46684241	46684241	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:46684241G>C	ENST00000274793.7	-	4	452	c.256C>G	c.(256-258)Cca>Gca	p.P86A	PLA2G7_ENST00000538237.1_Missense_Mutation_p.P41A|PLA2G7_ENST00000537365.1_Missense_Mutation_p.P86A|PLA2G7_ENST00000541026.1_Intron	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	86					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	p.P86A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TCTTGGGATGGATAATATAAA	0.368000													98	162					0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316366	73316366	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:73316366C>T	ENST00000258098.6	-	2	749	c.509G>A	c.(508-510)cGc>cAc	p.R170H	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	170					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAGGTTGTTGCGCGTGAACTG	0.532000													5	514					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62241747	62241747	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:62241747C>T	ENST00000261517.5	-	42	4727	c.4654G>A	c.(4654-4656)Gat>Aat	p.D1552N	VPS13C_ENST00000395896.4_Missense_Mutation_p.D1552N|VPS13C_ENST00000395898.3_Missense_Mutation_p.D1509N|VPS13C_ENST00000249837.3_Missense_Mutation_p.D1509N	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1552					protein localization			p.D1552N(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GATAAAAAATCCATGAAGGAA	0.408000													42	87					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42251562	42251562	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:42251562A>G	ENST00000341421.3	+	13	2067	c.1874A>G	c.(1873-1875)gAg>gGg	p.E625G	TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron	NM_001265608.1|NM_014965.4	NP_001252537.1|NP_055780.2	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		p.E625G(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GAGATGCAGGAGCCGCCAGCG	0.632000													4	16					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031741	79031741	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:79031741C>T	ENST00000446378.2	+	2	7184	c.7153C>T	c.(7153-7155)Cca>Tca	p.P2385S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2385						perinuclear region of cytoplasm		p.P2385S(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGATAAGGTGCCACAACAGCC	0.353000													61	144					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25098952	25098952	+	Splice_Site	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:25098952G>A	ENST00000533227.1	+	11	965	c.678_splice	c.e11+1	p.Q226_splice	LUZP2_ENST00000336930.6_Splice_Site_p.Q312_splice	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	312						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTATCCCACAGGTATGTGTTT	0.313000													7	297					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	58					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37335385	37335385	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:37335385C>T	ENST00000373091.3	-	5	766	c.750G>A	c.(748-750)atG>atA	p.M250I	GRIK3_ENST00000373093.4_Missense_Mutation_p.M250I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	250					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.M250I(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ACTCAGTCATCATGCCCATGG	0.557000													27	131					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214239769	214239769	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:214239769G>A	ENST00000331683.5	+	9	963	c.868G>A	c.(868-870)Ggt>Agt	p.G290S	SPAG16_ENST00000374309.3_Missense_Mutation_p.G196S|SPAG16_ENST00000447990.1_Missense_Mutation_p.G290S|SPAG16_ENST00000272898.7_Missense_Mutation_p.G290S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	290					cilium assembly	cilium axoneme|flagellar axoneme		p.G290S(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGCACCAGAAGGTCCTACTCA	0.318000													26	94					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432337	140432337	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:140432337G>A	ENST00000306549.3	+	1	1359	c.1282G>A	c.(1282-1284)Gga>Aga	p.G428R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		428	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATGGATACTGGACCACCTAG	0.443000													5	157					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196720569	196720569	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:196720569A>T	ENST00000312428.6	-	45	8661	c.8561T>A	c.(8560-8562)tTa>tAa	p.L2854*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2854	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTTTATTTAATTCAAGTGT	0.418000													7	751					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5391580	5391580	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:5391580C>A	ENST00000399537.4	-	17	5688	c.5340G>T	c.(5338-5340)agG>agT	p.R1780S	TNRC18_ENST00000430969.1_Missense_Mutation_p.R1780S			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1780							DNA binding	p.R1780_G1781>SC(2)|p.R1780S(2)|p.R835S(1)|p.R835_G836>SC(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCGCCAGGCCCCTCTTGGTCA	0.647000													22	58					1.9806e-07	2.18824e-07	1	1	0
PNPLA6	10908	broad.mit.edu	37	19	7605595	7605595	+	Splice_Site	SNP	C	C	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:7605595C>G	ENST00000221249.6	+	9	1108	c.678_splice	c.e9+1	p.T226_splice	PNPLA6_ENST00000414982.3_Splice_Site_p.T274_splice|PNPLA6_ENST00000545201.2_Splice_Site_p.T226_splice|PNPLA6_ENST00000450331.3_Splice_Site_p.T226_splice|PNPLA6_ENST00000600737.1_Splice_Site_p.T265_splice	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	265					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	p.T226S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GATGTCATCACCGTGAGTGAC	0.577000													25	60					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129799907	129799907	+	Silent	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:129799907T>C	ENST00000421865.2	+	54	7570	c.7521T>C	c.(7519-7521)aaT>aaC	p.N2507N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2507	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.N2507N(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTCCGTACAATATACTCAGTA	0.363000													44	211					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956761	16956761	+	RNA	SNP	C	C	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:16956761C>G	ENST00000412962.1	-	0	294																											CCTGGACCTGCCCTGGGGCAG	0.647000													2	6					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162340	90162340	+	RNA	SNP	C	C	T	rs138169571	by1000genomes	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:90162340C>T	ENST00000564451.1	+	0	1693				TUBB8P7_ENST00000567960.1_RNA														p.R358W(1)									CATCCCACTCCGGGGGCTAAA	0.478000													5	125					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32996166	32996166	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:32996166T>C	ENST00000070846.6	-	6	1484	c.1460A>G	c.(1459-1461)cAa>cGa	p.Q487R	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	487					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ccgcccgccttggcctcccaa	0.532000													3	58					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29573438	29573438	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:29573438G>T	ENST00000377034.4	-	20	2682	c.2347C>A	c.(2347-2349)Ctg>Atg	p.L783M	GABBR1_ENST00000377012.4_Missense_Mutation_p.L666M|GABBR1_ENST00000377016.4_Missense_Mutation_p.L721M|GABBR1_ENST00000355973.3_Missense_Mutation_p.L666M|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	AAGATTCCCAGCAGCAGCAGC	0.512000													52	162					3.31993e-32	3.98974e-32	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38320157	38320157	+	Silent	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:38320157G>T	ENST00000379705.3	-	3	1671	c.814C>A	c.(814-816)Cga>Aga	p.R272R	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000447043.1_Silent_p.R272R|TRPC4_ENST00000426868.2_Silent_p.R272R|TRPC4_ENST00000379681.3_Silent_p.R272R|TRPC4_ENST00000355779.2_Silent_p.R272R|TRPC4_ENST00000379673.2_Silent_p.R272R|TRPC4_ENST00000358477.2_Silent_p.R272R			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	272	Multimerization domain (By similarity).				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	p.R272*(2)|p.R272R(2)		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)		TTGTCATCTCGGTAATTAAGA	0.418000													63	270					2.18419e-29	2.60204e-29	1	1	0
PGBD4	161779	broad.mit.edu	37	15	34395952	34395952	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:34395952T>A	ENST00000397766.2	+	1	1679	c.1220T>A	c.(1219-1221)gTa>gAa	p.V407E		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	407										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GTGATTGAAGTAAACAATAGA	0.413000													4	156					0	0	1	0	0
FAM120AOS	158293	broad.mit.edu	37	9	96209937	96209937	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr9:96209937T>G	ENST00000375412.5	-	3	1609	c.727A>C	c.(727-729)Acc>Ccc	p.T243P	FAM120AOS_ENST00000423591.1_Missense_Mutation_p.T61P|FAM120AOS_ENST00000479094.1_5'UTR	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	243								p.T243P(1)		kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						GGTTTTGTGGTTTTCTTTGAG	0.333000													23	59					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604432	140604432	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:140604432C>A	ENST00000239449.4	+	1	1355	c.1355C>A	c.(1354-1356)aCc>aAc	p.T452N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.T299N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		452					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCACCTTCACCCAAACCTCC	0.592000													22	201					1.9806e-07	2.18824e-07	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11650990	11650990	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:11650990C>T	ENST00000262442.3	+	32	6585	c.6517C>T	c.(6517-6519)Cgg>Tgg	p.R2173W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2173W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2173	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2173W(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATCATGAAACGGCGCCCCGT	0.542000													13	95					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48607732	48607732	+	Silent	SNP	G	G	A	rs142651194	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:48607732G>A	ENST00000328333.8	-	97	7523	c.7416C>T	c.(7414-7416)ggC>ggT	p.G2472G	COL7A1_ENST00000454817.1_Silent_p.G2440G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2472	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G2472G(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCACGCTCGCCTCGGGGCC	0.617000													11	47					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322030	55322030	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:55322030T>C	ENST00000314644.2	+	1	248	c.248T>C	c.(247-249)tTt>tCt	p.F83S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTGTTGTATTTTTGTTTGTC	0.403000										HNSCC(20;0.049)			4	586					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327386	57327386	+	Silent	SNP	C	C	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:57327386C>T	ENST00000326441.9	-	10	2787	c.2424G>A	c.(2422-2424)caG>caA	p.Q808Q	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.Q682Q|PEG3_ENST00000598410.1_Silent_p.Q684Q|PEG3_ENST00000423103.2_Silent_p.Q808Q|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	808					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATCGAAGCTCTGAATGGTAG	0.468000													9	437					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100182040	100182040	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:100182040A>G	ENST00000317233.4	-	19	3263	c.3028T>C	c.(3028-3030)Tcg>Ccg	p.S1010P	AFF3_ENST00000409236.1_Missense_Mutation_p.S1010P|AFF3_ENST00000356421.2_Missense_Mutation_p.S1035P|AFF3_ENST00000409579.1_Missense_Mutation_p.S1035P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1010					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGATAAACGACAATGCTGCT	0.398000													3	237					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685938	100685938	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:100685938G>T	ENST00000306151.4	+	3	11305	c.11241G>T	c.(11239-11241)atG>atT	p.M3747I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3747	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.M3747I(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTGTCAATGCCCATGGAAA	0.473000													89	89					6.64208e-72	8.05279e-72	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													10	533	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6742-6747)caccccfs	p.HP2248fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2248	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.A2251fs*102(1)		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)		CAGATCTGCAACCCCCCGCAGG	0.554													7	353	---	---	---	---					
FBXO42	54455	broad.mit.edu	37	1	16577865	16577866	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:16577865_16577866insG	ENST00000375592.3	-	10	1669_1670	c.1453_1454insC	c.(1453-1455)acgfs	p.T485fs		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	485										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGATCCTCGTCGGGGGGCCAAA	0.485													7	97	---	---	---	---					
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)cacfs	p.H937fs	LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495													9	510	---	---	---	---					
LDLRAP1	26119	broad.mit.edu	37	1	25889626	25889627	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:25889626_25889627insC	ENST00000374338.4	+	6	717_718	c.598_599insC	c.(598-600)cccfs	p.P200fs	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	200					amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGACTGCACCCCCTCCTTG	0.634													7	99	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													8	505	---	---	---	---					
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:31406073_31406074insG	ENST00000373747.3	-	22	3653_3654	c.3554_3555insC	c.(3553-3555)caafs	p.Q1185fs	PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1182					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGATACCATTAGGGGGGCCACA	0.525													8	433	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													11	131	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:33233494_33233495insC	ENST00000401073.2	+	2	412_413	c.342_343insC	c.(340-345)cgccccfs	p.RP114fs	KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	55			S -> P (in dbSNP:rs3737994).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614													11	191	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	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													9	489	---	---	---	---					
LRRC41	10489	broad.mit.edu	37	1	46751494	46751495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:46751494_46751495insG	ENST00000343304.6	-	4	1319_1320	c.1034_1035insC	c.(1033-1035)cgcfs	p.R345fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	345										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGAGGTGGCTGGGGGGTGCAG	0.619													7	237	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													12	264	---	---	---	---					
DAB1	1600	broad.mit.edu	37	1	57491653	57491654	+	Splice_Site	INS	-	-	G	rs138352976		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:57491653_57491654insG	ENST00000371236.2	-	10	1049_1050		c.e10+1		DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site|DAB1_ENST00000371234.4_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCATACTTACGGGGGGAGAGG	0.465													11	576	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	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													16	199	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								9	174	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													21	232	---	---	---	---					
WDR47	22911	broad.mit.edu	37	1	109553972	109553973	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:109553972_109553973insA	ENST00000357672.3	-	4	986_987	c.611_612insT	c.(610-612)ttgfs	p.L204fs	WDR47_ENST00000361054.3_Frame_Shift_Ins_p.L204fs|WDR47_ENST00000400794.3_Frame_Shift_Ins_p.L239fs|WDR47_ENST00000369965.4_Frame_Shift_Ins_p.L232fs|WDR47_ENST00000369962.3_Frame_Shift_Ins_p.L232fs			O94967	WDR47_HUMAN	WD repeat domain 47	232										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CATTACCACATAAGAGGTCGAT	0.391													11	393	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs			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													7	178	---	---	---	---					
PDE4DIP	9659	broad.mit.edu	37	1	144922606	144922607	+	Frame_Shift_Del	DEL	AT	AT	-	rs148145000		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:144922606_144922607delAT	ENST00000529945.1	-	3	1728_1729	c.1289_1290delAT	c.(1288-1290)tfs	p.Y430fs	PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.Y404fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Del_p.Y430fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.Y333fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.Y267fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.Y267fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Del_p.Y54fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.Y267fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.Y404fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.Y267fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	267					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTTTAGTTCATAGCTCATTTC	0.361			T	PDGFRB	MPD								30	508	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													10	139	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CAGCACCACCTGGGGGGGCCCT	0.554													13	285	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152325784	152325789	+	In_Frame_Del	DEL	GTACTG	GTACTG	-	rs146394048		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:152325784_152325789delGTACTG	ENST00000388718.5	-	3	4545_4550	c.4473_4478delCAGTAC	c.(4471-4479)tca>tc	p.SST1491del	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1491							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCCAGTTGTACTGGACCCTCTCT	0.524													7	803	---	---	---	---					
SLC39A1	27173	broad.mit.edu	37	1	153934780	153934781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:153934780_153934781insC	ENST00000368623.3	-	2	992_993	c.233_234insG	c.(232-234)ggtfs	p.G78fs	SLC39A1_ENST00000368621.1_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000310483.6_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	78						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCAAAAAGACGCCCCCCGCGAA	0.614													7	159	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				13	227	---	---	---	---					
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:154493907_154493908insC	ENST00000368482.4	+	6	1159_1160	c.321_322insC	c.(319-324)agccccfs	p.SP107fs	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	107	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.520													11	638	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(256-261)gcggggfs	p.AG86fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554													21	868	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													7	252	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167778957	167778958	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:167778957_167778958insT	ENST00000367848.1	-	33	5011_5012	c.4514_4515insA	c.(4513-4515)aaafs	p.K1505fs	ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.K1597fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.K1444fs|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1597					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCAGGAATTTGTTTTTTTGAAG	0.351													8	390	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332													9	527	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574													8	324	---	---	---	---					
FAM129A	116496	broad.mit.edu	37	1	184765130	184765131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:184765130_184765131insG	ENST00000367511.3	-	14	1960_1961	c.1767_1768insC	c.(1765-1770)cccaggfs	p.R590fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	590					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						TTTGACCCTGTGGGGGGCTTTA	0.490													7	248	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	186022084	186022085	+	Splice_Site	INS	-	-	C	rs150287374		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:186022084_186022085insC	ENST00000271588.4	+	43	6807_6808	c.6577_splice	c.e43-1	p.A2193_splice	HMCN1_ENST00000367492.2_Splice_Site_p.A2193_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2193					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						TTTTTTCTAGTCCCCCCAAATA	0.342													7	212	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_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													10	194	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cacfs	p.H287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624													25	285	---	---	---	---					
NFASC	23114	broad.mit.edu	37	1	204924032	204924033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:204924032_204924033insC	ENST00000367172.4	+	7	816_817	c.488_489insC	c.(487-489)accfs	p.T163fs	NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs			O94856	NFASC_HUMAN	neurofascin	163	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.P159fs*12(1)|p.P165fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAGTGCAACCCCCCGCCTG	0.559													7	464	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_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													18	484	---	---	---	---					
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					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						CCTCATTGCTTCCCCCCTGGGC	0.465													7	345	---	---	---	---					
ARV1	64801	broad.mit.edu	37	1	231131566	231131567	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:231131566_231131567insA	ENST00000310256.2	+	4	566_567	c.509_510insA	c.(508-510)gaafs	p.E170fs	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Ins_p.E130fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCCATGACGGCAAAAAAAAAGC	0.381													7	158	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													7	431	---	---	---	---					
VSNL1	7447	broad.mit.edu	37	2	17773439	17773440	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:17773439_17773440insAT	ENST00000406397.1	+	2	623_624	c.98_99insAT	c.(97-99)gttfs	p.V33fs	VSNL1_ENST00000295156.4_Frame_Shift_Ins_p.V33fs|VSNL1_ENST00000404666.2_Frame_Shift_Ins_p.V33fs			P62760	VISL1_HUMAN	visinin-like 1	33	EF-hand 1.						calcium ion binding	p.G33E(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGTACAAAGGATTTCTCAAGG	0.450													14	514	---	---	---	---					
APOB	338	broad.mit.edu	37	2	21228306	21228307	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:21228306_21228307insA	ENST00000233242.1	-	26	11560_11561	c.11433_11434insT	c.(11431-11436)ttagatfs	p.LD3811fs		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3811					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACGGTTATCTCAAAAAAGGGAA	0.426													7	443	---	---	---	---					
IFT172	26160	broad.mit.edu	37	2	27688717	27688718	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:27688717_27688718insC	ENST00000260570.3	-	17	1827_1828	c.1724_1725insG	c.(1723-1725)gaafs	p.E575fs		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	575					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCTCGGTCTTTCCCCCGCCCCG	0.475													10	831	---	---	---	---					
TET3	200424	broad.mit.edu	37	2	74329151	74329152	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:74329151_74329152insG	ENST00000409262.3	+	9	4831_4832	c.4831_4832insG	c.(4831-4833)gggfs	p.G1611fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1611							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGCGCAAGTGGGGGGGCACT	0.688													9	55	---	---	---	---					
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(958-963)ttggggfs	p.LG320fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	320	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545													10	603	---	---	---	---					
RAB6C	84084	broad.mit.edu	37	2	130738387	130738388	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:130738387_130738388insT	ENST00000410061.2	+	1	1153_1154	c.699_700insT	c.(697-702)ggtgaafs	p.E234fs		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	234					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					TGAATATTGGCTTGAACCTTTT	0.450													8	419	---	---	---	---					
NCKAP5	344148	broad.mit.edu	37	2	133541083	133541084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:133541083_133541084insG	ENST00000409261.1	-	14	3673_3674	c.3300_3301insC	c.(3298-3303)ccagccfs	p.A1101fs	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.A1101fs|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1101	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGGAAGGCTTGGGGGGTGTGG	0.505													10	711	---	---	---	---					
RIF1	55183	broad.mit.edu	37	2	152301850	152301851	+	Splice_Site	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:152301850_152301851insT	ENST00000243326.4	+	18	2469		c.e18-1		RIF1_ENST00000428287.2_Splice_Site|RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTCTTGTTTTAGACCAATGAAG	0.322													17	183	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													12	193	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	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						GCGCCTCCAATCCCCCCCACAT	0.465													10	223	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_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													14	230	---	---	---	---					
ALS2	57679	broad.mit.edu	37	2	202588159	202588160	+	Frame_Shift_Ins	INS	-	-	C	rs41309046		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:202588159_202588160insC	ENST00000264276.6	-	22	3889_3890	c.3517_3518insG	c.(3517-3519)aaafs	p.K1173fs	ALS2_ENST00000457679.2_Frame_Shift_Ins_p.K485fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1173					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATATACTTTTCCCCCCTGCAC	0.406													10	374	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_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													9	93	---	---	---	---					
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:218940309_218940310insG	ENST00000374155.3	+	8	1564_1565	c.1154_1155insG	c.(1153-1155)tggfs	p.W385fs	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000463872.1_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594													8	214	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													7	68	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													16	269	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	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													27	409	---	---	---	---					
PPP1R7	5510	broad.mit.edu	37	2	242092998	242092999	+	Frame_Shift_Ins	INS	-	-	G	rs140300724		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr2:242092998_242092999insG	ENST00000234038.6	+	2	634_635	c.160_161insG	c.(160-162)gggfs	p.G54fs	PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000406106.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000404405.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000407025.1_Frame_Shift_Ins_p.G54fs	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	54						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TGGGGAGGAGCGGGGGGAGGAG	0.629													7	139	---	---	---	---					
GRM7	2917	broad.mit.edu	37	3	6903212	6903213	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:6903212_6903213insG	ENST00000486284.1	+	1	411_412	c.137_138insG	c.(136-138)gggfs	p.G46fs	GRM7_ENST00000402647.2_Frame_Shift_Ins_p.G46fs|GRM7_ENST00000403881.1_Frame_Shift_Ins_p.G46fs|GRM7_ENST00000389336.4_Frame_Shift_Ins_p.G46fs|GRM7_ENST00000357716.4_Frame_Shift_Ins_p.G46fs	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	46					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATCCGGATCGAGGGGGACGTCA	0.688													2	4	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gatfs	p.D850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								7	109	---	---	---	---					
VHL	7428	broad.mit.edu	37	3	10191580	10191580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:10191580delC	ENST00000256474.2	+	3	1413	c.573delC	c.(571-573)cafs	p.H191fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.H150fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	191			H -> D (in ECYT2; dbSNP:rs28940301).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.H191fs*23(1)|p.D187_N193del(1)|p.H191fs*10(1)|p.H191fs*22(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGGAAGACCACCCAAATGTGC	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				44	29	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				10	360	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_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													8	247	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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	524	---	---	---	---					
CCNL1	57018	broad.mit.edu	37	3	156867954	156867954	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:156867954delG	ENST00000295926.3	-	7	897	c.779delC	c.(778-780)cgfs	p.P260fs	CCNL1_ENST00000461804.1_Frame_Shift_Del_p.P260fs|CCNL1_ENST00000479052.1_5'UTR	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	260	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGTTGGCAACGGAATCTAAAC	0.343													24	41	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													7	252	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													7	361	---	---	---	---					
ENAM	10117	broad.mit.edu	37	4	71500242	71500242	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:71500242delC	ENST00000396073.3	+	6	709	c.428delC	c.(427-429)tafs	p.S143fs		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	143					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAGCAGCCATCACATAATCAA	0.483													14	70	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													8	544	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)gacfs	p.D860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				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)		GCCTCTCGTCTGGGGGGCATCC	0.599													7	313	---	---	---	---					
RRH	10692	broad.mit.edu	37	4	110763720	110763721	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:110763720_110763721insC	ENST00000317735.4	+	6	850_851	c.816_817insC	c.(814-819)ccccccfs	p.PP272fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	272					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AGAAGATTCCTCCCCCCATGGC	0.416													7	313	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:144381536_144381537insC	ENST00000262995.4	+	9	2216_2217	c.1789_1790insC	c.(1789-1791)cccfs	p.P597fs	GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406													9	273	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				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)	CCTGTTTGGCTCCCCCCAGGTG	0.450													7	402	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													8	186	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			12	751	---	---	---	---					
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559													7	408	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799540	31799541	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:31799540_31799541insC	ENST00000438447.1	+	2	573_574	c.185_186insC	c.(184-186)accfs	p.T62fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.E65fs*34(1)|p.E65fs*21(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTGATCACAGCCCCCCCGAAA	0.589													8	227	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)gggfs	p.G101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													9	162	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													14	646	---	---	---	---					
C5orf42	65250	broad.mit.edu	37	5	37108532	37108533	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:37108532_37108533insT	ENST00000274258.7	-	51	9560_9561	c.5973_5974insA	c.(5971-5976)aaatggfs	p.W1992fs	C5orf42_ENST00000508244.1_Frame_Shift_Ins_p.W3094fs|C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.W3094fs			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3094										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCACTTCCATGTTTTTTTGTAT	0.431													10	450	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		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)				CCCTCCTCGTTGGGGGGCAGGA	0.500													7	357	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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	221	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	85					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426													7	186	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71491428	71491429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:71491428_71491429insA	ENST00000296755.7	+	5	2544_2545	c.2246_2247insA	c.(2245-2247)gaafs	p.E749fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	749	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					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)		CTGTCTGAAGCAAAAAAACCAG	0.396													7	514	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													17	391	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													16	202	---	---	---	---					
TTC37	9652	broad.mit.edu	37	5	94863716	94863716	+	Splice_Site	DEL	C	C	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:94863716delC	ENST00000358746.2	-	13	1433		c.e13+1			NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37								binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GACAAGTCTACCTGATCAAGC	0.363													59	150	---	---	---	---					
SLC12A2	6558	broad.mit.edu	37	5	127522258	127522259	+	In_Frame_Ins	INS	-	-	AGGACC			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:127522258_127522259insAGGACC	ENST00000262461.2	+	27	3763_3764	c.3574_3575insAGGACC	c.(3574-3576)gga>AGGACCgga	p.1191_1192insRT	SLC12A2_ENST00000343225.4_In_Frame_Ins_p.1175_1176insRT	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1191					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)	AGCTCTATCTAAGGACCTACCA	0.431													45	303	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													8	886	---	---	---	---					
HSPA4	3308	broad.mit.edu	37	5	132432907	132432907	+	Frame_Shift_Del	DEL	G	G	-	rs143003242	by1000genomes	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:132432907delG	ENST00000304858.2	+	15	2147	c.1858delG	c.(1858-1860)cafs	p.A620fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	620					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTAAGAACGCAGTGGAGGA	0.373													8	707	---	---	---	---					
KDM3B	51780	broad.mit.edu	37	5	137727193	137727194	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:137727193_137727194insC	ENST00000314358.5	+	8	2072_2073	c.1872_1873insC	c.(1870-1875)caccccfs	p.HP624fs	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Frame_Shift_Ins_p.HP280fs	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	624					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TATTTTTACAGCCCCCCAAATT	0.505													7	173	---	---	---	---					
PCDHGC3	5098	broad.mit.edu	37	5	140857727	140857728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:140857727_140857728insC	ENST00000308177.3	+	1	2148_2149	c.2044_2045insC	c.(2044-2046)cccfs	p.P682fs	PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGAG	0.515											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	194	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	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													13	630	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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	332	---	---	---	---					
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C	rs144777273		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:142586762_142586763insC	ENST00000378004.3	+	21	2343_2344		c.e21-1		ARHGAP26_ENST00000274498.4_Splice_Site|ARHGAP26_ENST00000486650.1_Intron	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579													7	312	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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	799	---	---	---	---					
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(907-912)ttggggfs	p.LG303fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	303						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569													9	330	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													9	220	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr5:156915296_156915297insG	ENST00000257527.4	-	21	2604_2605	c.2526_2527insC	c.(2524-2529)cccaccfs	p.T843fs	ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs|ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564													7	440	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													8	861	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													7	266	---	---	---	---					
PRPF4B	8899	broad.mit.edu	37	6	4032356	4032357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:4032356_4032357insG	ENST00000337659.6	+	2	705_706	c.605_606insG	c.(604-606)aggfs	p.R202fs	PRPF4B_ENST00000538861.1_Frame_Shift_Ins_p.R188fs	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	202	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAGAAAAGTAAGGGGGGTATTG	0.361													7	261	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_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													18	378	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs			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													10	174	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													26	1207	---	---	---	---					
HCG17	414778	broad.mit.edu	37	6	30230128	30230129	+	RNA	INS	-	-	G	rs2523745	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:30230128_30230129insG	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							AGGTGAGACATGGGGGGGCCTG	0.510													8	219	---	---	---	---					
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	Frame_Shift_Ins	INS	-	-	G	rs146246499	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:30867830_30867831insG	ENST00000361741.4	+	12	1492_1493	c.1297_1298insG	c.(1297-1299)gggfs	p.G433fs	DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376569.3_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	0					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTACATTTTTGGGGGGAGAGA	0.441													7	558	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:32948228_32948229insC	ENST00000395289.2	+	13	3962_3963	c.2361_2362insC	c.(2359-2364)aaccccfs	p.NP787fs	BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs			P25440	BRD2_HUMAN	bromodomain containing 2	752	ET.|Poly-Ser.|Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426													7	268	---	---	---	---					
SYNGAP1	8831	broad.mit.edu	37	6	33405504	33405505	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:33405504_33405505insC	ENST00000418600.2	+	8	923_924	c.822_823insC	c.(820-825)ctccccfs	p.LP274fs	SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.LP274fs|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.LP215fs|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	274	C2.				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						CCCGGGAGCTGCCCCCCAAGAA	0.599													13	245	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													9	630	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)cccfs	p.P308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.540			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	128	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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	401	---	---	---	---					
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1108-1113)aaccccfs	p.NP370fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	370					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.490													7	153	---	---	---	---					
FGFR1OP	11116	broad.mit.edu	37	6	167438321	167438322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr6:167438321_167438322insC	ENST00000366847.3	+	9	1089_1090	c.858_859insC	c.(856-861)gcccccfs	p.AP286fs	FGFR1OP_ENST00000349556.4_Frame_Shift_Ins_p.AP266fs	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	286					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TCTCGGATGCACCCCCCTTAAA	0.495			T	FGFR1	"""MPD, NHL"""								10	475	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)gggfs	p.G360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	360	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475													9	181	---	---	---	---					
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:13975472_13975473insG	ENST00000343495.5	-	7	1098_1099	c.360_361insC	c.(358-363)cccaccfs	p.T121fs	ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs			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	202	---	---	---	---					
OSBPL3	26031	broad.mit.edu	37	7	24911654	24911655	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:24911654_24911655insC	ENST00000313367.2	-	3	581_582	c.130_131insG	c.(130-132)gatfs	p.D44fs	OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.D44fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.D44fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	44					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GTAATTCATCTCCCCCCTCAGT	0.431													8	173	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													8	212	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284915	38284934	+	RNA	DEL	TGAGTGTGTCTGTGACTGTG	TGAGTGTGTCTGTGACTGTG	-	rs12701613		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:38284915_38284934delTGAGTGTGTCTGTGACTGTG	ENST00000436911.2	-	0	330																											tgtgtgtgtctgagtgtgtctgtgactgtgtgtAATTAAA	0.377													7	81	---	---	---	---					
BAZ1B	9031	broad.mit.edu	37	7	72892348	72892349	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:72892348_72892349delGT	ENST00000339594.4	-	7	1780_1781	c.1442_1443delAC	c.(1441-1443)tfs	p.Y482fs	BAZ1B_ENST00000404251.1_Frame_Shift_Del_p.Y482fs	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	482	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTCTTTGTAGTATGCAATGAG	0.500													8	231	---	---	---	---					
FBXO24	26261	broad.mit.edu	37	7	100187685	100187686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:100187685_100187686insC	ENST00000241071.6	+	2	447_448	c.125_126insC	c.(124-126)tccfs	p.S42fs	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	42	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATCCAGTTGTTCCCCCCAGAGC	0.569													10	359	---	---	---	---					
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													8	43	---	---	---	---					
ZNF277	11179	broad.mit.edu	37	7	111958300	111958300	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:111958300delT	ENST00000361822.3	+	5	658	c.529delT	c.(529-531)ttfs	p.F177fs	ZNF277_ENST00000450657.1_Frame_Shift_Del_p.F177fs	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	177						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CGTTTGTATGTTTTGCAATGA	0.338													35	200	---	---	---	---					
FSCN3	29999	broad.mit.edu	37	7	127235625	127235626	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:127235625_127235626insC	ENST00000265825.5	+	2	628_629	c.409_410insC	c.(409-411)cccfs	p.P137fs	FSCN3_ENST00000420086.2_Frame_Shift_Ins_p.P3fs	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	137						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CCACATGTGGACCCCCCGACCA	0.594													7	144	---	---	---	---					
PAX4	5078	broad.mit.edu	37	7	127255556	127255557	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:127255556_127255557insC	ENST00000341640.2	-	1	223_224	c.18_19insG	c.(16-21)ggtcttfs	p.L7fs	PAX4_ENST00000338516.3_Frame_Shift_Ins_p.L15fs|PAX4_ENST00000378740.2_Frame_Shift_Ins_p.L7fs|PAX4_ENST00000463946.1_5'UTR	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	15	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTCACAAAGAGCCCCCCAAGCT	0.609													7	109	---	---	---	---					
ZNF398	57541	broad.mit.edu	37	7	148876152	148876153	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr7:148876152_148876153insC	ENST00000420008.2	+	6	1463_1464	c.675_676insC	c.(673-678)acccccfs	p.TP225fs	ZNF398_ENST00000475153.1_Frame_Shift_Ins_p.TP396fs|ZNF398_ENST00000426851.2_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000540950.1_Frame_Shift_Ins_p.TP401fs|ZNF398_ENST00000483892.1_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000335901.4_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000491174.1_Frame_Shift_Ins_p.TP225fs	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	396					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CCAGCGAGACACCCCCCACCTG	0.589													8	224	---	---	---	---					
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3835-3840)atggggfs	p.MG1279fs	MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR	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													12	376	---	---	---	---					
ADRA1A	148	broad.mit.edu	37	8	26722382	26722383	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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_ENST00000354550.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000276393.4_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000358857.5_Frame_Shift_Ins_p.A35fs|ADRA1A_ENST00000380581.2_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_ENST00000380582.3_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	155	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													8	138	---	---	---	---					
NBN	4683	broad.mit.edu	37	8	90955480	90955481	+	Splice_Site	DEL	CC	CC	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:90955480_90955481delCC	ENST00000265433.3	-	14	2338_2339	c.2184_splice	c.e14+1	p.EV728_splice	NBN_ENST00000409330.1_Splice_Site_p.EV646_splice	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	728					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCCTACTAACCTCCATTTCCT	0.401								Homologous recombination					55	86	---	---	---	---					
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:103572984_103572992delTGCAGCCCC	ENST00000285402.3	+	2	781_789	c.625_633delTGCAGCCCC	c.(625-633)del	p.CSP215del	ODF1_ENST00000518835.1_Splice_Site_p.3_splice	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	215	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584													10	49	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124664150	124664151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:124664150_124664151insC	ENST00000325995.7	-	1	1039_1040	c.1016_1017insG	c.(1015-1017)gatfs	p.D339fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	339										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGACAGCCATGCCCCCCAGCAC	0.589													7	215	---	---	---	---					
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	by1000genomes	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1																						ACCACTGTGGTGGGGGGGAGTG	0.564													7	81	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													13	196	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)ggcfs	p.G1911fs	TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475													11	334	---	---	---	---					
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:13696451_13696452insG	ENST00000357447.2	-	23	3382_3383	c.3014_3015insC	c.(3013-3015)cagfs	p.Q1005fs	FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535													14	187	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:21962451_21962452insG	ENST00000377072.3	+	11	1572_1573	c.1224_1225insG	c.(1222-1227)gaggggfs	p.EG408fs	MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL								14	371	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron	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													19	359	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:75560463_75560464insC	ENST00000604729.1	+	24	5365_5366	c.5068_5069insC	c.(5068-5070)cccfs	p.P1690fs	ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs					zinc finger, SWIM-type containing 8																		CTTCTCCCGCTCCCCCCCCTAC	0.604													9	98	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													11	661	---	---	---	---					
SHOC2	8036	broad.mit.edu	37	10	112771513	112771514	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:112771513_112771514insG	ENST00000369452.4	+	9	2031_2032	c.1686_1687insG	c.(1684-1689)gcggggfs	p.AG562fs	SHOC2_ENST00000265277.5_Frame_Shift_Ins_p.AG516fs	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	562					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AGATTGTTGCTGGGGGGCCTTC	0.465													7	147	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													10	211	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs143767864	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)gagfs	p.E235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		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)		CTGGGCCCTCCGGGGGGGTGAA	0.589													15	157	---	---	---	---					
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)ccgcgafs	p.R788fs	EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	788	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406													7	164	---	---	---	---					
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:31812316_31812317insG	ENST00000419022.1	-	13	1634_1635	c.1166_1167insC	c.(1165-1167)ccafs	p.P389fs	PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				9	110	---	---	---	---					
NAT10	55226	broad.mit.edu	37	11	34163264	34163268	+	Splice_Site	DEL	AGCTA	AGCTA	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:34163264_34163268delAGCTA	ENST00000257829.3	+	26	2918_2921	c.2712_splice	c.e26-1	p.904_splice	NAT10_ENST00000531159.2_Splice_Site_p.832_splice|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	904	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGTCTTTTGTAGCTATTTAATGAAG	0.488													17	207	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													11	404	---	---	---	---					
CKAP5	9793	broad.mit.edu	37	11	46784654	46784655	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:46784654_46784655insA	ENST00000529230.1	-	30	3808_3809	c.3762_3763insT	c.(3760-3765)ttacacfs	p.LH1254fs	CKAP5_ENST00000415402.1_Frame_Shift_Ins_p.LH1254fs|CKAP5_ENST00000312055.5_Frame_Shift_Ins_p.LH1254fs|CKAP5_ENST00000354558.3_Frame_Shift_Ins_p.LH1254fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1254					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTATTGGTGTCAAAAAACCTCA	0.361													9	463	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs	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													16	477	---	---	---	---					
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:59425145_59425146insG	ENST00000300146.9	-	5	562_563	c.478_479insC	c.(478-480)gggfs	p.G160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601).	cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGGACCCTGGGGGGGCCTC	0.455													9	185	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)catfs	p.H229fs	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.490								Nucleotide excision repair (NER)					8	91	---	---	---	---					
TBC1D10C	374403	broad.mit.edu	37	11	67176564	67176565	+	Frame_Shift_Ins	INS	-	-	C	rs147560025		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:67176564_67176565insC	ENST00000312390.5	+	9	982_983	c.953_954insC	c.(952-954)accfs	p.T318fs	TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.T318fs|TBC1D10C_ENST00000526387.1_Frame_Shift_Ins_p.HP253fs	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	318						intracellular	Rab GTPase activator activity	p.A321fs*100(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTTCGAGCCATCCCCCCCGCGC	0.683													2	4	---	---	---	---					
RSF1	51773	broad.mit.edu	37	11	77412023	77412024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:77412023_77412024insG	ENST00000308488.6	-	6	2552_2553	c.2250_2251insC	c.(2248-2253)ccaagtfs	p.S751fs	RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S499fs|RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S720fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	751					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTAGAACTTTGGGGGGAGAAT	0.411													11	322	---	---	---	---					
KCTD21	283219	broad.mit.edu	37	11	77885567	77885568	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:77885567_77885568insC	ENST00000340067.3	-	2	311_312	c.33_34insG	c.(31-36)ggagctfs	p.A12fs	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	12	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTATAGAGCTTCCCCCCGACGT	0.574													8	116	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:85435355_85435356insG	ENST00000359152.5	-	1	3715_3716	c.3716_3717insC	c.(3715-3717)cgafs	p.R1239fs	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000524452.1_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													7	179	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs	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													10	319	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													16	787	---	---	---	---					
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cggfs	p.R200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569													9	233	---	---	---	---					
ROBO4	54538	broad.mit.edu	37	11	124756678	124756679	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:124756678_124756679insG	ENST00000306534.3	-	16	2960_2961	c.2475_2476insC	c.(2473-2478)ccccacfs	p.H826fs	ROBO4_ENST00000533054.1_Frame_Shift_Ins_p.H681fs|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	826					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCATAGGTGGTGGGGGGTGAAG	0.599													7	223	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													16	1001	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	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													18	318	---	---	---	---					
GNB3	2784	broad.mit.edu	37	12	6952601	6952602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:6952601_6952602insG	ENST00000229264.3	+	7	747_748	c.342_343insG	c.(340-345)tgggggfs	p.WG114fs	GNB3_ENST00000435982.2_Frame_Shift_Ins_p.WG114fs	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	114					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	p.G115W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TTGTGGCATGTGGGGGGCTGGA	0.584													7	157	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:7177938_7177939insC	ENST00000406697.1	+	15	2678_2679	c.2050_2051insC	c.(2050-2052)cccfs	p.P684fs	C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs|C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					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)	GGAAAATAGCACCCCCCGTGAG	0.490													8	471	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													8	668	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													7	120	---	---	---	---					
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:14940365_14940366insG	ENST00000261167.2	-	12	1792_1793	c.1559_1560insC	c.(1558-1560)cggfs	p.R520fs	WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	520	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	p.G521fs*28(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGAACAGCCCAGGGGGGGCAGG	0.550													21	239	---	---	---	---					
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:53856277_53856278insC	ENST00000603815.1	+	8	867_868	c.517_518insC	c.(517-519)cccfs	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_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000437231.1_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													10	198	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559													27	422	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													15	1920	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2167-2172)ccccccfs	p.PP723fs	DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													9	213	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56559112	56559113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:56559112_56559113insG	ENST00000394023.3	-	27	3326_3327	c.3221_3222insC	c.(3220-3222)cggfs	p.R1074fs	SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1043fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1074fs|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	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)			CATGGGGTCCAGGGGGGGGAAC	0.574													14	220	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													10	165	---	---	---	---					
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)cgafs	p.R200fs	DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.500													7	213	---	---	---	---					
CYP27B1	1594	broad.mit.edu	37	12	58160653	58160654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:58160653_58160654insC	ENST00000228606.4	-	1	380_381	c.171_172insG	c.(169-174)ggtgtcfs	p.V58fs	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	58					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	AGCCTCGACAGCCCCCCCTTGC	0.599													8	104	---	---	---	---					
METTL21B	25895	broad.mit.edu	37	12	58174036	58174037	+	Splice_Site	INS	-	-	G	rs143311691		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:58174036_58174037insG	ENST00000333012.5	+	4	475		c.e4-1		METTL21B_ENST00000551420.1_Splice_Site|RP11-571M6.15_ENST00000471530.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000300209.8_Splice_Site|METTL21B_ENST00000548256.1_Splice_Site	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													7	186	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								11	346	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													14	282	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_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	217	---	---	---	---					
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(325-330)gaccccfs	p.DP109fs	USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	109					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						ATCAGAAGGAGCCCCCCTCACA	0.485													10	1062	---	---	---	---					
RASAL1	8437	broad.mit.edu	37	12	113565942	113565943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:113565942_113565943insC	ENST00000546530.1	-	4	448_449	c.163_164insG	c.(163-165)ggafs	p.G55fs	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.G55fs	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	55	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGTGTACTCCTCCCCCCAGAAG	0.614													10	662	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113759072	113759073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:113759072_113759073insC	ENST00000552014.1	-	4	752_753	c.237_238insG	c.(235-240)ggacctfs	p.P80fs	SLC24A6_ENST00000202831.3_Frame_Shift_Ins_p.P80fs|SLC24A6_ENST00000546737.1_Frame_Shift_Ins_p.P80fs|SLC24A6_ENST00000553238.1_5'UTR			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													7	693	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:117977604_117977605insG	ENST00000425217.1	-	10	1573_1574	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs	KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634													8	182	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													19	191	---	---	---	---					
MRPS31	10240	broad.mit.edu	37	13	41340958	41340959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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	206	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													16	210	---	---	---	---					
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr13:76375005_76375006insG	ENST00000357063.3	+	8	2064_2065	c.804_805insG	c.(802-807)agggggfs	p.RG268fs	LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000321797.8_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	268						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCACGTTGAGAGGGGGGCGTGA	0.450													7	438	---	---	---	---					
OR4M1	441670	broad.mit.edu	37	14	20248930	20248931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													8	733	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C	rs144584331		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		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)		CAGCTGCCACACCCCCCCACTC	0.584													11	214	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													10	491	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)ggtfs	p.G447fs	ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719).		apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAATGAGGACAGCGGGGGCTGG	0.500													8	166	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													9	262	---	---	---	---					
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)gggfs	p.G317fs	GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GATGGACATCTGGGGGGGAGAG	0.470													14	196	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr14:75248518_75248519insC	ENST00000325680.7	+	4	1896_1897	c.1772_1773insC	c.(1771-1773)cccfs	p.P591fs	YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGTTCTCCCCCCACCTT	0.599													8	232	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													17	452	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6705)gggfs	p.G2235fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584													9	533	---	---	---	---					
BMF	90427	broad.mit.edu	37	15	40396470	40396471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:40396470_40396471insG	ENST00000354670.4	-	4	597_598	c.363_364insC	c.(361-366)ccaaggfs	p.R122fs	BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Frame_Shift_Ins_p.R122fs|BMF_ENST00000397573.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000220446.4_Intron|BMF_ENST00000561360.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561282.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000559701.1_Intron	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	122					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-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;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CACTGCCCTTCGGGGGGCTGCT	0.569													8	254	---	---	---	---					
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs11542063	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:45353365_45353366insC	ENST00000267814.9	+	4	546_547	c.366_367insC	c.(364-369)acccccfs	p.TP122fs	SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	122					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	TCTGTGCCACGCCCCCCGATGA	0.530													7	270	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													7	268	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													18	1091	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_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	255	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs	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													7	292	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:20966297_20966298insG	ENST00000261383.3	-	55	10907_10908	c.10908_10909insC	c.(10906-10911)ccaaggfs	p.R3637fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3637	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGGAGCCCTTTGGGGGGCTCAT	0.510													7	342	---	---	---	---					
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1867-1872)ttccccfs	p.FP623fs	POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000564209.1_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	138	---	---	---	---					
ARHGAP17	55114	broad.mit.edu	37	16	24942179	24942180	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:24942179_24942180insG	ENST00000289968.6	-	19	2509_2510	c.2440_2441insC	c.(2440-2442)accfs	p.T814fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.T736fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACCAGGAGGTTGGGGGGGTGGG	0.574													10	161	---	---	---	---					
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)ccatgcfs	p.C504fs	SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604													7	545	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:30100077_30100078insC	ENST00000553607.1	-	4	1397_1398	c.704_705insG	c.(703-705)gatfs	p.D235fs	TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs			O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629													11	165	---	---	---	---					
ITGAD	3681	broad.mit.edu	37	16	31422475	31422476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:31422475_31422476insC	ENST00000389202.2	+	13	1484_1485	c.1435_1436insC	c.(1435-1437)cccfs	p.P479fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	479					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCTCATTGGGGCCCCCCATTAC	0.649													7	671	---	---	---	---					
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:31422532_31422533insG	ENST00000389202.2	+	13	1541_1542	c.1492_1493insG	c.(1492-1494)gggfs	p.G498fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	498					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCCTTGCCTAGGGGGGTGAGT	0.629													7	823	---	---	---	---					
RBL2	5934	broad.mit.edu	37	16	53504347	53504348	+	Frame_Shift_Ins	INS	-	-	G	rs67487800		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:53504347_53504348insG	ENST00000262133.6	+	16	2435_2436	c.2298_2299insG	c.(2296-2301)gtggggfs	p.VG766fs	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	766	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGTCAATGTTGGGGGGCAGGC	0.480													10	158	---	---	---	---					
C16orf3	750	broad.mit.edu	37	16	90095545	90095546	+	In_Frame_Ins	INS	-	-	CTACGGGGCAGCCTATGGGGCAGG	rs11274945		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr16:90095545_90095546insCTACGGGGCAGCCTATGGGGCAGG	ENST00000408886.2	-	1	763_764	c.205_206insCCTGCCCCATAGGCTGCCCCGTAG	c.(205-207)ctc>CCTGCCCCATAGGCTGCCCCGTAGctc	p.68_69insPAP*AAP*	GAS8_ENST00000540721.1_Intron|GAS8_ENST00000268699.4_Intron|GAS8_ENST00000536122.1_Intron	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN	chromosome 16 open reading frame 3	76										large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGCCATGGAGCctacggggcag	0.658													3	2	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	348	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401													10	589	---	---	---	---					
FXR2	9513	broad.mit.edu	37	17	7496121	7496122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:7496121_7496122insG	ENST00000250113.7	-	14	1953_1954	c.1619_1620insC	c.(1618-1620)cgcfs	p.R540fs		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	540						cytosolic large ribosomal subunit	protein binding|RNA binding	p.P540fs*32(1)|p.A541fs*14(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGGCACTTGCTGGGGGGGGTTC	0.609													7	54	---	---	---	---					
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:8222137_8222138insG	ENST00000361926.3	+	12	2052_2053	c.1942_1943insG	c.(1942-1944)gggfs	p.G648fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	648					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						AGGGTGCCGGAGGGGGGGCGTG	0.634													9	184	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29576097	29576098	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:29576097_29576098insC	ENST00000358273.4	+	30	4453_4454	c.4070_4071insC	c.(4069-4071)tccfs	p.S1357fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.S1357fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1357	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTCAGAATTCCCCCCTCAAC	0.406			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	255	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)gggfs	p.G76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579													10	231	---	---	---	---					
TAF15	8148	broad.mit.edu	37	17	34171885	34171886	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:34171885_34171886insG	ENST00000588240.1	+	15	1697_1698	c.1582_1583insG	c.(1582-1584)gggfs	p.G528fs	TAF15_ENST00000311979.3_Frame_Shift_Ins_p.G525fs|TAF15_ENST00000592237.1_Splice_Site_p.TG332_splice	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	528	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		agACAGAAGCCGGGGGGGCTAT	0.609			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								7	127	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					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)	TTCTCCACATTGGGGGGAATGC	0.470													9	675	---	---	---	---					
EME1	146956	broad.mit.edu	37	17	48458137	48458138	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:48458137_48458138insT	ENST00000393271.2	+	9	1671_1672	c.1589_1590insT	c.(1588-1590)tttfs	p.F530fs	EME1_ENST00000338165.4_Frame_Shift_Ins_p.F517fs|EME1_ENST00000511648.2_Frame_Shift_Ins_p.F530fs	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	517					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TATCAGCAGTGTTTTTCGGATA	0.515								Direct reversal of damage;Homologous recombination					72	137	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000285273.4_Frame_Shift_Ins_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	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													13	628	---	---	---	---					
RNF43	54894	broad.mit.edu	37	17	56435160	56435161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:56435160_56435161insC	ENST00000584437.1	-	8	3931_3932	c.1976_1977insG	c.(1975-1977)gccfs	p.A659fs	RNF43_ENST00000577625.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.A659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.A532fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCCT	0.599													7	221	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													10	823	---	---	---	---					
AXIN2	8313	broad.mit.edu	37	17	63532584	63532585	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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				9	33	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													13	778	---	---	---	---					
CYTH1	9267	broad.mit.edu	37	17	76677055	76677056	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr17:76677055_76677056insT	ENST00000589297.1	-	12	1475_1476	c.783_784insA	c.(781-786)aacaaafs	p.NK261fs	CYTH1_ENST00000585509.1_Frame_Shift_Ins_p.NK261fs|CYTH1_ENST00000361101.4_Frame_Shift_Ins_p.NK320fs|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000446868.3_Frame_Shift_Ins_p.NK320fs|CYTH1_ENST00000591455.1_Frame_Shift_Ins_p.NK319fs|CYTH1_ENST00000589296.1_Intron			Q15438	CYH1_HUMAN	cytohesin 1	320	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						ATACTCACTGGTTTTTTGGAGT	0.396													8	436	---	---	---	---					
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452	byFrequency	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)gacfs	p.D215fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs	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													15	415	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													7	293	---	---	---	---					
OR7D2	162998	broad.mit.edu	37	19	9297034	9297034	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:9297034delT	ENST00000344248.2	+	1	756	c.577delT	c.(577-579)tcfs	p.F193fs		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	193					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTCTGATACCTTCCTGAACAG	0.418													87	495	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)ccaaccfs	p.T130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_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													11	208	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:12155624_12155625insT	ENST00000602107.1	-	5	731_732	c.732_733insA	c.(730-735)aacctafs	p.NL244fs	ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.396													10	369	---	---	---	---					
FXYD7	53822	broad.mit.edu	37	19	35642251	35642251	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:35642251delG	ENST00000588265.1	+	3	211	c.156delG	c.(154-156)ctfs	p.L52fs	FXYD7_ENST00000586063.1_Intron|FXYD7_ENST00000270310.2_Intron			P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	46						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCCATTCCTGGGCTGCCTCA	0.547													53	212	---	---	---	---					
FAM98C	147965	broad.mit.edu	37	19	38899415	38899416	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													8	75	---	---	---	---					
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													9	429	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													15	641	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													12	178	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													12	288	---	---	---	---					
CNOT3	4849	broad.mit.edu	37	19	54656634	54656635	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:54656634_54656635insC	ENST00000406403.1	+	15	3538_3539	c.1935_1936insC	c.(1933-1938)acccccfs	p.TP645fs	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.TP464fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.TP645fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	645	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTGTCCGACGCCCCCCTACCA	0.579													7	218	---	---	---	---					
NLRP8	126205	broad.mit.edu	37	19	56487556	56487557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr19:56487556_56487557insA	ENST00000291971.3	+	8	2834_2835	c.2763_2764insA	c.(2761-2766)tgaaaafs	p.*K921fs	NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.*K902fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	921						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGCGCTCTGTAAAAATAAAAC	0.411													34	146	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													7	328	---	---	---	---					
FERMT1	55612	broad.mit.edu	37	20	6091014	6091015	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:6091014_6091015insG	ENST00000217289.4	-	5	1464_1465	c.676_677insC	c.(676-678)gtcfs	p.V226fs	FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	226	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTCTGGGGACTGGGGGGGTTGG	0.530													8	205	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													19	239	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													17	212	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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	78	---	---	---	---					
PLCG1	5335	broad.mit.edu	37	20	39798133	39798134	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:39798133_39798134insG	ENST00000373272.2	+	23	3022_3023	c.2617_2618insG	c.(2617-2619)gggfs	p.G873fs	PLCG1_ENST00000373271.1_Frame_Shift_Ins_p.G873fs|PLCG1_ENST00000244007.3_Frame_Shift_Ins_p.G873fs	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	873					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	p.R873Q(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGACTTGCTGCGGGGGGTCTTG	0.540													9	213	---	---	---	---					
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(622-627)tgccccfs	p.CP208fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	208					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.540													13	129	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													34	688	---	---	---	---					
GNAS	2778	broad.mit.edu	37	20	57478756	57478757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:57478756_57478757insC	ENST00000371100.4	+	5	2823_2824	c.2271_2272insC	c.(2269-2274)gtccccfs	p.VP757fs	GNAS_ENST00000306090.10_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371085.3_Frame_Shift_Ins_p.VP114fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.VP743fs|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.VP115fs|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.VP99fs	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	114					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.V760fs*23(1)|p.V117fs*23(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAACCTGGTGCCCCCCGTGGA	0.559			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			8	204	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58889651	58889662	+	RNA	DEL	CATTCTCCCATT	CATTCTCCCATT	-	rs117834183	by1000genomes	TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr20:58889651_58889662delCATTCTCCCATT	ENST00000432910.1	+	0	332					NR_046099.1																						tccatccatccattctcccattcatccatcct	0.538													2	4	---	---	---	---					
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													11	173	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	RNA	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr22:21399220_21399221insC	ENST00000439119.1	-	0	51					NR_002829.1																						TCTGCAGGGCGCCCCCCCACCA	0.599													18	181	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr22:42271636_42271637insC	ENST00000361204.4	+	7	1460_1461	c.1294_1295insC	c.(1294-1296)cccfs	p.P432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGCC	0.520													8	214	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000380995.1_5'UTR|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													12	191	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaa>ga	p.EE1149del	SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1149	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													8	25	---	---	---	---					
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ctgfs	p.L361fs	IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked				7	77	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													8	319	---	---	---	---					
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3372-01A-01W-0886-08	TCGA-A3-3372-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414aeaee-f536-4394-92e6-6a1c8dad8aca	eabe41f2-bf96-48bd-98c1-9a001b92bf85	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													7	232	---	---	---	---					
