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
ANAPC4	29945	broad.mit.edu	37	4	25384881	25384881	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:25384881A>T	ENST00000315368.3	+	4	377		c.e4-1		ANAPC4_ENST00000510092.1_Splice_Site	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTCTTGTTTTAGTTTTGGCCT	0.343000													6	105					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306911	61306911	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr18:61306911A>T	ENST00000341074.5	-	6	684	c.569T>A	c.(568-570)tTt>tAt	p.F190Y	SERPINB4_ENST00000356424.6_Missense_Mutation_p.F190Y	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTCTTTTTTAAATTTATTCTC	0.299000													4	116					0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23545640	23545640	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:23545640G>A	ENST00000376979.3	-	3	687	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	130						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGTCATCCAGGGCCTGGTGCT	0.552000													121	159					0	0	1	0	0
MND1	84057	broad.mit.edu	37	4	154276832	154276832	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:154276832G>A	ENST00000240488.3	+	3	185	c.96G>A	c.(94-96)ttG>ttA	p.L32L	MND1_ENST00000504860.1_Silent_p.L17L|MND1_ENST00000503967.1_3'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	32					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TAAAAGACTTGGAGAAGATTG	0.279000													4	145					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123336532	123336532	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:123336532A>T	ENST00000296513.2	+	11	1434		c.e11-1		ADAD1_ENST00000388724.2_Splice_Site|ADAD1_ENST00000388725.2_Splice_Site	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)						multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGCTTTCTAGGTGATGGGA	0.343000													5	229					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38808503	38808503	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:38808503A>T	ENST00000310803.5	-	6	747	c.570T>A	c.(568-570)aaT>aaA	p.N190K	RASGRP1_ENST00000561180.1_Missense_Mutation_p.N241K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.N142K|RASGRP1_ENST00000450598.2_Missense_Mutation_p.N190K|RASGRP1_ENST00000558164.1_Missense_Mutation_p.N190K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.N190K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	190					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTTGCTGGTATTTGATTTTA	0.458000													7	282					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:108127989A>T	ENST00000228437.5	-	12	2863	c.2404T>A	c.(2404-2406)Taa>Aaa	p.*802K		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	0					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTTTCCTTTTATTTATGTGCA	0.358000													11	272					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393000													14	769					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48218463	48218463	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:48218463C>A	ENST00000394747.1	-	22	3495	c.3146G>T	c.(3145-3147)aGg>aTg	p.R1049M	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049M|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049M|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049M|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GATCTCCAGCCTCAATGCCAT	0.483000													143	201					8.59004e-37	9.26683e-37	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50724784	50724784	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:50724784G>A	ENST00000404971.1	-	15	4025	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W	NRXN1_ENST00000402717.3_Missense_Mutation_p.R848W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R856W|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.R848W|NRXN1_ENST00000406316.2_Missense_Mutation_p.R856W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R856W	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	856					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R856W(1)|p.R897W(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAAGATACCGTCGTTCTGTG	0.403000													8	207					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	309548	309548	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:309548A>T	ENST00000399932.3	+	4	786	c.335A>T	c.(334-336)tAt>tTt	p.Y112F	ITFG3_ENST00000301679.2_Missense_Mutation_p.Y112F|ITFG3_ENST00000442458.2_Missense_Mutation_p.Y112F|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y112F|ITFG3_ENST00000600536.1_Missense_Mutation_p.Y112F|ITFG3_ENST00000450082.2_Missense_Mutation_p.Y112F			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	112						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CTTTTTCTTTATAAAAACACC	0.413000													10	320					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57140052	57140052	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:57140052A>T	ENST00000371244.4	+	2	160		c.e2-1			NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit						carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TCTTTTCTTTAGTTGGAGAAC	0.313000													7	134					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30945375	30945375	+	Silent	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr8:30945375T>A	ENST00000298139.5	+	12	1764	c.1515T>A	c.(1513-1515)acT>acA	p.T505T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	505					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTCTTCCTACTAaagaagaag	0.353000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	209					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7046368	7046368	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr18:7046368T>A	ENST00000389658.3	-	6	862		c.e6-2			NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATAATAATACTAAGGAAAAAG	0.338000													5	121					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232613	56232613	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:56232613A>T	ENST00000268912.5	+	1	120	c.99A>T	c.(97-99)ttA>ttT	p.L33F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGTTCCTGTTAGTCTATGTTA	0.458000													9	467					0	0	1	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28219931	28219931	+	Translation_Start_Site	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:28219931G>A	ENST00000377294.2	-	0	71				ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTTATAGTCCGTGCCTTTGCA	0.537000													6	2					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196210676	196210676	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:196210676A>T	ENST00000318037.3	-	4	1239	c.645T>A	c.(643-645)agT>agA	p.S215R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	215					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTTTGTTCTTACTTTTCTTTT	0.363000													6	244					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298372	36298372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:36298372C>T	ENST00000437635.2	-	2	273	c.96G>A	c.(94-96)tgG>tgA	p.W32*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	32										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AATGGCAGTCCCACGACTCCG	0.647000													78	17					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62888824	62888824	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:62888824T>G	ENST00000393630.3	+	4	723	c.332T>G	c.(331-333)cTt>cGt	p.L111R	MON2_ENST00000280379.6_Missense_Mutation_p.L111R|MON2_ENST00000549378.1_Intron|MON2_ENST00000546600.1_Missense_Mutation_p.L111R|MON2_ENST00000393629.2_Missense_Mutation_p.L111R|MON2_ENST00000552738.1_Missense_Mutation_p.L111R|MON2_ENST00000552115.1_Missense_Mutation_p.L111R|MON2_ENST00000393632.2_Missense_Mutation_p.L111R	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	111					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATTAACATGCTTTGGCAGCTA	0.318000													4	95					0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	476700	476700	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:476700A>G	ENST00000262305.4	+	1	1082	c.694A>G	c.(694-696)Acg>Gcg	p.T232A	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.T232A	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	232	EF-hand 1.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CCAGTTTGCTACGGTCTACGG	0.706000													2	16					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73206031	73206031	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:73206031C>G	ENST00000377110.2	-	21	3346	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	TRPM3_ENST00000360823.2_Missense_Mutation_p.E897Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E894Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E907Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E894Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E884Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1035Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E882Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E907Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1039Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1062Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E897Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1060						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATGATGGCTCCTCATTGGGA	0.458000													31	533					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31616324	31616324	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:31616324C>T	ENST00000395934.2	+	4	396	c.389C>T	c.(388-390)cCa>cTa	p.P130L	ELP4_ENST00000379163.5_Missense_Mutation_p.P130L|ELP4_ENST00000350638.5_Missense_Mutation_p.P130L			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	130					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TAGGAACTTCCAGCACCATTA	0.284000													59	84					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3							cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303000									Hermansky-Pudlak syndrome				9	284					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													6	402					0	0	1	0	0
IFITM1	8519	broad.mit.edu	37	11	314263	314263	+	Silent	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:314263C>A	ENST00000408968.3	+	1	411	c.93C>A	c.(91-93)acC>acA	p.T31T	IFITM1_ENST00000528780.1_Silent_p.T31T|IFITM1_ENST00000328221.5_Silent_p.T31T	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	31					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACAGCGAGACCTCCGTGCCCG	0.582000													3	113					1	1	1	1	0
GRM6	2916	broad.mit.edu	37	5	178410177	178410177	+	Missense_Mutation	SNP	C	C	T	rs151103990	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:178410177C>T	ENST00000231188.5	-	9	2348	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V724M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	724					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGTCAATCACGCTGTGTGGG	0.607000													5	25					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73745660	73745660	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:73745660G>T	ENST00000276033.5	+	4	1490	c.1324G>T	c.(1324-1326)Ggc>Tgc	p.G442C	SLC16A2_ENST00000587091.1_Missense_Mutation_p.G368C			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	368						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	GGCTACCTCAGGCCTTGGGCG	0.517000													5	176					5.9392e-07	6.25549e-07	1	1	0
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000534878.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000537782.1_Splice_Site	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2						mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403000													13	341					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	A	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130207140A>G	ENST00000342483.5	+	5	1567	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_ENST00000543471.1_Silent_p.K363K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532000													9	240					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408000													10	431					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39757017	39757017	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:39757017T>A	ENST00000395670.3	-	7	1323		c.e7-2		KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGCCAACTAAAAGAAAGA	0.333000													7	285					0	0	1	0	0
BTG4	54766	broad.mit.edu	37	11	111369433	111369433	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:111369433A>T	ENST00000525791.1	-	2	253	c.69T>A	c.(67-69)agT>agA	p.S23R	BTG4_ENST00000356018.2_Missense_Mutation_p.S23R			Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	23					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		TTTGCTGTTTACTTAGTTTAT	0.363000													5	149					0	0	1	0	0
MORF4L1	10933	broad.mit.edu	37	15	79186408	79186408	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:79186408C>T	ENST00000331268.5	+	11	959	c.755C>T	c.(754-756)gCg>gTg	p.A252V	MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V|MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	252	Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AGGGAGTATGCGGTTAATGAA	0.333000													4	150					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131127939	131127939	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr8:131127939C>T	ENST00000357668.1	-	22	2134	c.2107G>A	c.(2107-2109)Gta>Ata	p.V703I	ASAP1_ENST00000518721.1_Missense_Mutation_p.V703I			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	703					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCATATTCTACGTGGACGTGT	0.403000													24	287					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41142841	41142841	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr21:41142841A>T	ENST00000380588.4	+	4	521		c.e4-1		IGSF5_ENST00000479378.1_Splice_Site	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5							integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTTCTTCTTTAGTTATGGGAG	0.388000													6	127					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78854281	78854281	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:78854281T>C	ENST00000306801.3	+	14	1938	c.1576T>C	c.(1576-1578)Tac>Cac	p.Y526H	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	526					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCGGACCCCTACATGCCAGT	0.632000													2	13					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:7579699C>A	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTGTCCTTACCAGAACGTTG	0.597000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			183	28					4.76554e-48	5.20409e-48	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr10:37431050G>C	ENST00000374660.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408000													3	106					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41133075	41133075	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:41133075G>A	ENST00000308370.7	+	32	4379	c.4379G>A	c.(4378-4380)cGc>cAc	p.R1460H	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1393H|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1423H|LTBP4_ENST00000545697.1_Missense_Mutation_p.R828H|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1461	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTTCGCCCGCCGGGAGGCT	0.657000													4	4					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106640215	106640215	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:106640215A>T	ENST00000515279.1	+	3	646		c.e3-1		GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing							cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTTGTTTTGTAGGTTAGTCAG	0.338000													7	270					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113599447	113599447	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr8:113599447C>T	ENST00000297405.5	-	23	3977	c.3733G>A	c.(3733-3735)Gca>Aca	p.A1245T	CSMD3_ENST00000352409.3_Missense_Mutation_p.A1245T|CSMD3_ENST00000455883.2_Missense_Mutation_p.A1141T|CSMD3_ENST00000343508.3_Missense_Mutation_p.A1205T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1245	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATTCGTTGCAGATGCACCA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	101					0	0	1	0	0
CSTA	1475	broad.mit.edu	37	3	122056392	122056392	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:122056392A>T	ENST00000479204.1	+	2	97		c.e2-1		CSTA_ENST00000264474.3_Splice_Site			P01040	CYTA_HUMAN	cystatin A (stefin A)						keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		TCTTTTCTTTAGGTTAAACCA	0.348000													7	343					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991000	21991000	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:21991000T>C	ENST00000594012.1	-	7	2335	c.1821A>G	c.(1819-1821)aaA>aaG	p.K607K	ZNF43_ENST00000598381.1_Silent_p.K607K|ZNF43_ENST00000595461.1_Silent_p.K607K|ZNF43_ENST00000354959.4_Silent_p.K613K	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGAATTTTTTTATGTGTAG	0.338000													3	121					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454064	84454064	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr13:84454064G>A	ENST00000377084.2	-	1	2464	c.1579C>T	c.(1579-1581)Cac>Tac	p.H527Y		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	527						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGTTTCCGTGGAGGTCTATC	0.547000													34	6					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76380267	76380267	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:76380267A>T	ENST00000370014.3	+	11	1843		c.e11-1		SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000327284.8_Splice_Site|SENP6_ENST00000447266.2_Splice_Site	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTCCTTTTTAGTTTGGCAAT	0.323000													4	89					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948799	133948799	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:133948799A>T	ENST00000445123.1	+	3	274		c.e3-1		FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site|FAM122C_ENST00000370784.4_Splice_Site			Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTTTTTAGTTTTAATTC	0.338000													8	204					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127507357	127507357	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:127507357A>T	ENST00000262461.2	+	19	2912		c.e19-1		SLC12A2_ENST00000343225.4_Splice_Site	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2						potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ttttgttcttAGTGATGCTTT	0.269000													7	383					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76350229	76350229	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:76350229A>T	ENST00000476707.1	+	1	153	c.14A>T	c.(13-15)tAc>tTc	p.Y5F	CNTNAP4_ENST00000469589.1_Intron|CNTNAP4_ENST00000307431.8_Intron|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000478060.1_Intron			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	0					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTGTTGTTTTACTTGTTGGTT	0.383000													3	23					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18451282	18451282	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:18451282A>T	ENST00000541669.1	+	4	355		c.e4-1		LDHC_ENST00000536880.1_Intron|LDHC_ENST00000535809.1_Splice_Site|LDHC_ENST00000280704.4_Splice_Site|LDHC_ENST00000537486.1_Splice_Site|LDHC_ENST00000544105.1_Splice_Site|LDHC_ENST00000546146.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C						glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TTTCCTTTTTAGATTACAGTG	0.383000													6	191					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178802557	178802557	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:178802557A>T	ENST00000367635.3	+	8	818		c.e8-1		RALGPS2_ENST00000367634.2_Splice_Site|RALGPS2_ENST00000324778.4_Splice_Site	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2						small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTTGTTTTTTAGTTATTAAGT	0.259000													4	47					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38565673	38565673	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:38565673G>T	ENST00000287675.5	+	6	1023	c.927G>T	c.(925-927)ttG>ttT	p.L309F	EXOG_ENST00000358249.2_Intron|EXOG_ENST00000422077.2_Missense_Mutation_p.L259F	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	309				L -> S (in Ref. 2; BAF82796).		mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						AGTTCACCTTGTACTTGAGTA	0.428000													8	488					3.09899e-07	3.28345e-07	1	1	0
CHL1	10752	broad.mit.edu	37	3	443307	443307	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:443307A>T	ENST00000256509.2	+	27	4027		c.e27-1		CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like						axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCTCTTTTTTAGTTAAAGAAA	0.328000													4	104					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952245	119952245	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:119952245C>G	ENST00000307142.4	+	4	2511	c.2315C>G	c.(2314-2316)cCa>cGa	p.P772R	SYNPO2_ENST00000434046.2_Missense_Mutation_p.P772R|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P772R|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	772	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCTCCCAACCAGTAACTCCA	0.557000													6	280					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													4	45					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ttTTCTTTTTAGGTTGTAGAC	0.398000													4	109					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99076919	99076919	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:99076919A>T	ENST00000357310.1	+	15	2623		c.e15-1		APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Splice_Site|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Splice_Site|APAF1_ENST00000550527.1_Splice_Site|APAF1_ENST00000549007.1_Splice_Site|APAF1_ENST00000339433.3_Splice_Site|APAF1_ENST00000547045.1_Splice_Site	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1						activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTTTCTCTTTAGATTTGGAAT	0.383000													7	225					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27777970	27777970	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:27777970C>T	ENST00000333743.6	+	10	1601	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	449					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GGGTCTTTTTCCCCACGTCCT	0.473000													50	40					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084094	26084094	+	RNA	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:26084094T>C	ENST00000478176.1	-	0	363					NR_003678.1																						aaaacataCATTCTTAGAATA	0.299000													6	69					0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	216981499	216981499	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:216981499C>G	ENST00000392133.3	+	5	714	c.253C>G	c.(253-255)Cta>Gta	p.L85V	XRCC5_ENST00000392132.2_Missense_Mutation_p.L85V			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	85					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ACATCTGATGCTACCAGATTT	0.438000								Non-homologous end-joining					6	288					0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	26988665	26988665	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:26988665A>T	ENST00000443698.1	+	7	636		c.e7-1		IFT74_ENST00000380062.5_Splice_Site|IFT74_ENST00000433700.1_Splice_Site|IFT74_ENST00000429045.2_Splice_Site	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTTTGTTTTTAGTTGGTAGAT	0.254000													5	30					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172227005	172227005	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:172227005A>T	ENST00000241261.2	-	4	541		c.e4+1		TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10						activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGTTTCTCTTACTTGGAGAAG	0.358000													5	209					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48218462	48218462	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:48218462C>A	ENST00000394747.1	-	22	3496	c.3147G>T	c.(3145-3147)agG>agT	p.R1049S	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049S|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049S|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049S|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGATCTCCAGCCTCAATGCCA	0.483000													143	207					5.90745e-37	6.41174e-37	1	1	0
TWSG1	57045	broad.mit.edu	37	18	9337189	9337189	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr18:9337189A>T	ENST00000262120.5	+	2	154		c.e2-1		TWSG1_ENST00000581641.1_Splice_Site	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1											breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TTGTTTGTTTAGTTTCCTGGG	0.353000													5	188					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:133948805A>T	ENST00000414371.2	+	4	396	c.223A>T	c.(223-225)Aat>Tat	p.N75Y	FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343000													10	231					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						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						TCCCCAAAACTAAAAAGAAGG	0.378000													14	308					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													3	61					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158397620	158397620	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:158397620G>A	ENST00000243349.7	-	7	1567	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W	ACVR1C_ENST00000348328.5_Missense_Mutation_p.R246W|ACVR1C_ENST00000335450.7_Missense_Mutation_p.R323W|ACVR1C_ENST00000409680.3_Missense_Mutation_p.R353W	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	403	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GAACACCTCCGGGCTATTTCC	0.393000													5	215					0	0	1	0	0
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:140083501A>T	ENST00000274712.3	+	4	363		c.e4-1			NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2							nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCTGTTAGATATTACTG	0.368000													9	604					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142733221	142733221	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:142733221T>A	ENST00000473835.2	+	4	381	c.291T>A	c.(289-291)agT>agA	p.S97R	U2SURP_ENST00000493598.2_Missense_Mutation_p.S97R|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	97					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAACTTTAAGTAAAAAGGAAC	0.299000													4	131					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897195	61897195	+	Silent	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:61897195A>T	ENST00000427159.2	-	21	3156	c.2511T>A	c.(2509-2511)cgT>cgA	p.R837R		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	837					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TTTGTTCCTTACGTTGCTGTG	0.537000													9	603					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27838033	27838033	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:27838033A>T	ENST00000355467.4	+	11	1214		c.e11-1		ZNF512_ENST00000416005.2_Splice_Site|ZNF512_ENST00000413371.2_Splice_Site|ZNF512_ENST00000379717.1_Splice_Site|ZNF512_ENST00000556601.1_Splice_Site|RP11-158I13.2_ENST00000505973.1_RNA			Q96ME7	ZN512_HUMAN	zinc finger protein 512						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CTTGTCTTGTAGTTAAAATAT	0.363000													5	114					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66548462	66548462	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:66548462C>A	ENST00000359626.5	+	11	1484	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	440					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.D440E(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GGAAGATGGACCAGCCTGAAA	0.443000													5	268					0.00307968	0.00318711	1	1	0
TAT	6898	broad.mit.edu	37	16	71610149	71610149	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:71610149C>T	ENST00000355962.4	-	2	303	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	57					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CACAATGGCTCGGATGGGGTT	0.502000													41	36					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113649559	113649559	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:113649559A>T	ENST00000358160.4	+	11	1582		c.e11-1		GRAMD1C_ENST00000472026.1_Splice_Site|GRAMD1C_ENST00000479212.1_Splice_Site|GRAMD1C_ENST00000452134.2_Splice_Site|GRAMD1C_ENST00000440446.2_Splice_Site	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C							integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGTTGTTGTTAGATGTAGTAT	0.343000													8	196					0	0	1	0	0
RBMX2	51634	broad.mit.edu	37	X	129545472	129545472	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:129545472G>A	ENST00000305536.6	+	5	518	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	152							nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CTCTGAAGATGAAAAACCAAC	0.428000													4	130					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142490816	142490816	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:142490816T>A	ENST00000367630.4	+	3	393		c.e3+2		VTA1_ENST00000367621.1_Splice_Site|VTA1_ENST00000452973.2_Splice_Site	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1						cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATTTCACAAGTAAGTAAAGAG	0.303000													3	31					0	0	1	0	0
MIR17HG	407975	broad.mit.edu	37	13	92003640	92003640	+	RNA	SNP	G	G	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr13:92003640G>C	ENST00000385233.2	+	0	73					NR_029508.1																						GGCCTGTTGAGTTTGGTGGGG	0.378000													34	12					0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79522703	79522703	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:79522703G>T	ENST00000264908.6	+	11	1149	c.770G>T	c.(769-771)aGa>aTa	p.R257I	ANXA3_ENST00000503570.2_Missense_Mutation_p.R218I|ANXA3_ENST00000512884.1_Missense_Mutation_p.R218I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	257					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTAGCCGAAAGACTGCATCGA	0.388000													161	241					2.08959e-108	2.31023e-108	1	1	0
HEPHL1	341208	broad.mit.edu	37	11	93837804	93837804	+	Silent	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:93837804A>T	ENST00000315765.9	+	16	2801	c.2793A>T	c.(2791-2793)gtA>gtT	p.V931V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	931	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTTTTTGGTATTTAATGAGA	0.373000													15	613					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104098109	104098109	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:104098109A>T	ENST00000265148.3	-	14	1426	c.1337T>A	c.(1336-1338)aTa>aAa	p.I446K	CENPE_ENST00000380026.3_Missense_Mutation_p.I446K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	446					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTTGTTGTTATATTTGTTGG	0.289000													6	100					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331538	107331538	+	Silent	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:107331538A>T	ENST00000335040.1	+	1	90	c.90A>T	c.(88-90)ctA>ctT	p.L30L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTCGTTCTAATTTTGTGGA	0.433000													14	602					0	0	1	0	0
PLSCR2	57047	broad.mit.edu	37	3	146171870	146171870	+	Silent	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:146171870A>T	ENST00000497985.1	-	7	1060	c.621T>A	c.(619-621)atT>atA	p.I207I	PLSCR2_ENST00000336685.2_Silent_p.I134I	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	134					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TCTGATTTTTAATTGTAAACT	0.378000													4	114					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693666	45693666	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:45693666A>T	ENST00000310806.4	-	11	2582	c.2124T>A	c.(2122-2124)agT>agA	p.S708R		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	708					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CCTTGTTTTTACTTTTATGAC	0.348000													6	215					0	0	1	0	0
CCDC89	220388	broad.mit.edu	37	11	85396537	85396537	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:85396537C>G	ENST00000316398.3	-	1	783	c.637G>C	c.(637-639)Gag>Cag	p.E213Q		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	213						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTCTGTAGCTCCAGCAGCTCC	0.637000													6	164					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408000													8	412					0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29019452	29019452	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:29019452A>T	ENST00000373816.1	+	5	474		c.e5-1		GMEB1_ENST00000361872.4_Splice_Site|GMEB1_ENST00000294409.2_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTACTTTTAGTTCAATGAT	0.403000													4	90					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:102292785C>G	ENST00000561463.1	+	0	831																		p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													2	4					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74920195	74920195	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr10:74920195G>C	ENST00000372979.4	-	3	526	c.320C>G	c.(319-321)gCa>gGa	p.A107G	ECD_ENST00000430082.1_Missense_Mutation_p.A107G|ECD_ENST00000454759.1_Missense_Mutation_p.A107G	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	107					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					ACAATACCTTGCTACTAACTC	0.294000													3	50					0	0	1	0	0
SOAT1	6646	broad.mit.edu	37	1	179319429	179319429	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:179319429A>T	ENST00000367619.3	+	14	1457		c.e14-1		SOAT1_ENST00000535686.1_Splice_Site|SOAT1_ENST00000540564.1_Splice_Site|SOAT1_ENST00000539888.1_Splice_Site	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1						cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTTTCTTTAGTTTTTCTCC	0.333000													4	128					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110087930	110087930	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:110087930A>T	ENST00000230124.3	+	15	1707		c.e15-1		FIG4_ENST00000441478.2_Splice_Site	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)						cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTCTTTTTTTAGGTTATTTGA	0.343000													6	144					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130207131	130207131	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130207131T>C	ENST00000342483.5	+	5	1558	c.1152T>C	c.(1150-1152)acT>acC	p.T384T	ZNF79_ENST00000543471.1_Silent_p.T360T	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GGACTCACACTGGGGAGAAAC	0.547000													8	267					0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114674	66114674	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:66114674G>A	ENST00000311181.4	-	1	489	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	115					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CCCTCCCAGCGCTCCAGCAGA	0.687000													2	2					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130897742	130897742	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:130897742T>A	ENST00000509018.1	-	5	487		c.e5-2		RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000307984.5_Splice_Site|RAPGEF6_ENST00000308008.6_Splice_Site|RAPGEF6_ENST00000503398.2_Intron|FNIP1_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6						Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTACCAAAACTATAAAAACAG	0.284000													5	228					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169227	50169227	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:50169227G>A	ENST00000246785.3	+	1	405	c.147G>A	c.(145-147)gtG>gtA	p.V49V	BCL2L12_ENST00000441864.2_Silent_p.V49V|BCL2L12_ENST00000246784.3_Silent_p.V49V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	49					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCGGCCCAGTGCGCAGGCGCG	0.617000													6	8					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57972099	57972099	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:57972099G>A	ENST00000455537.2	+	23	2786	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	838					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAACAACCTGGAACAGCTTAC	0.473000													347	397					0	0	1	0	0
FAM221A	340277	broad.mit.edu	37	7	23740403	23740403	+	Splice_Site	SNP	A	A	T	rs138016346		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:23740403A>T	ENST00000344962.4	+	6	834		c.e6-1		FAM221A_ENST00000409653.1_Splice_Site|FAM221A_ENST00000409192.3_Splice_Site|FAM221A_ENST00000409994.3_Splice_Site	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A																		TTTCCTTGTTAGTAGGTACAA	0.328000													11	366					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:7172406A>T	ENST00000406697.1	+	9	1148	c.520A>T	c.(520-522)Aat>Tat	p.N174Y	C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y|C1S_ENST00000328916.3_Missense_Mutation_p.N174Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	174					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)	TCTGTTAGTTAATTGCAGTGG	0.423000													7	189					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000468592.1_Intron|DCAF17_ENST00000539783.1_Splice_Site	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17							CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358000													9	142					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96135788	96135788	+	RNA	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:96135788C>G	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ggatggactccatctcctgac	0.468000			T	TRA@	T-ALL								3	25					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39536662	39536662	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:39536662T>A	ENST00000263881.3	-	14	1322		c.e14-2		MAP4K3_ENST00000536018.1_Splice_Site|MAP4K3_ENST00000341681.5_Splice_Site|MAP4K3_ENST00000437545.1_Splice_Site	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3						JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTTGGCCAACTAAAAAAGAAA	0.358000													4	86					0	0	1	0	0
RPS9	6203	broad.mit.edu	37	19	54710275	54710275	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:54710275G>T	ENST00000402367.1	+	4	467	c.352G>T	c.(352-354)Ggc>Tgc	p.G118C	RPS9_ENST00000391753.2_Missense_Mutation_p.G118C|RPS9_ENST00000391752.1_Missense_Mutation_p.G118C|RPS9_ENST00000441429.1_Missense_Mutation_p.G118C|RPS9_ENST00000302907.4_Missense_Mutation_p.G118C|RPS9_ENST00000391751.3_Intron			P46781	RS9_HUMAN	ribosomal protein S9	118	S4 RNA-binding.				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		CTTCAAGCTGGGCTTGGCCAA	0.582000													3	58					0.004672	0.00480703	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													6	400					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33467663	33467663	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:33467663A>T	ENST00000265112.3	+	19	2334		c.e19-1		TARS_ENST00000502553.1_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000414361.2_Splice_Site	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase						threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGTTTGTTTTAGTTGTTGGTG	0.408000													5	118					0	0	1	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038421	14038421	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:14038421C>A	ENST00000380523.4	-	4	566	c.248G>T	c.(247-249)tGg>tTg	p.W83L	GEMIN8_ENST00000398355.3_Missense_Mutation_p.W83L|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	83					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GTAGTCCTGCCAGGCCACATG	0.488000													183	14					1.595e-65	1.75253e-65	1	1	0
FRYL	285527	broad.mit.edu	37	4	48523234	48523234	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:48523234T>A	ENST00000358350.4	-	55	8126		c.e55-2		FRYL_ENST00000503238.1_Splice_Site|FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000507873.2_Splice_Site	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTGTTTAACTAAAAAGAGAA	0.373000													6	172					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61526240	61526240	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:61526240G>C	ENST00000266070.4	-	10	2683	c.2358C>G	c.(2356-2358)caC>caG	p.H786Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.H786Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.H786Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.H786Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	786	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCTTTCATTGTGCAGTTTAG	0.498000													11	112					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72420855	72420855	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:72420855A>T	ENST00000340595.3	+	18	2758		c.e18-1		SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTTCCTTCTAGTTTATACCC	0.323000													10	680					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TGGTTAAAACTAAATAACCAA	0.303000													6	179					0	0	1	0	0
RSPH3	83861	broad.mit.edu	37	6	159420497	159420497	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:159420497C>T	ENST00000367069.2	-	1	722	c.86G>A	c.(85-87)cGc>cAc	p.R29H	RSPH3_ENST00000449822.1_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000252655.1_Missense_Mutation_p.R171H|RSPH3_ENST00000297262.3_Missense_Mutation_p.R171H			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	171										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTAACGGCTGCGCTGGCAGGG	0.687000													6	16					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829568	146829568	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:146829568C>A	ENST00000361727.3	+	8	1831	c.1315C>A	c.(1315-1317)Cag>Aag	p.Q439K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	439	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.Q439K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAACATCACACAGACCAAGAT	0.423000										HNSCC(39;0.1)			6	220					0.0293803	0.029884	1	1	0
TBX1	6899	broad.mit.edu	37	22	19752564	19752564	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:19752564C>T	ENST00000332710.4	+	6	897	c.768C>T	c.(766-768)gcC>gcT	p.A256A	TBX1_ENST00000359500.3_Silent_p.A256A|TBX1_ENST00000329705.7_Silent_p.A256A	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	256					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				AGAAATATGCCGAGGAGAACT	0.542000													3	91					0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149944257	149944257	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:149944257A>T	ENST00000367411.2	-	4	741	c.483T>A	c.(481-483)aaT>aaA	p.N161K	KATNA1_ENST00000335647.5_Missense_Mutation_p.N161K|KATNA1_ENST00000335643.8_Missense_Mutation_p.N161K	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	161	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CTCTTCCTTTATTCTGTTCTT	0.323000													4	100					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169487716	169487716	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:169487716T>C	ENST00000367796.3	-	23	6495	c.6294A>G	c.(6292-6294)ggA>ggG	p.G2098G	F5_ENST00000367797.3_Silent_p.G2093G			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2093	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCCAGTAATCTCCCCACCAAG	0.463000													3	101					0	0	1	0	0
DENND6A	201627	broad.mit.edu	37	3	57644909	57644909	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:57644909T>A	ENST00000311128.5	-	8	770		c.e8-2			NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		AATCCGTACCTAAAAGAAAGA	0.403000													7	297					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34642995	34642995	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:34642995C>T	ENST00000537011.1	+	4	1282	c.900C>T	c.(898-900)agC>agT	p.S300S	NUTM1_ENST00000333756.4_Silent_p.S272S|NUTM1_ENST00000438749.3_Silent_p.S290S					NUT midline carcinoma, family member 1																		AGCACACCAGCAACTTTGACC	0.567000													3	82					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72912910	72912910	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:72912910T>A	ENST00000361138.5	+	9	1140	c.1082T>A	c.(1081-1083)gTa>gAa	p.V361E		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	361					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GCTTTAATAGTAAAGCAAAAT	0.363000													11	665					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129096278	129096278	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:129096278A>T	ENST00000249344.2	+	9	874		c.e9-1		STRIP2_ENST00000435494.2_Splice_Site	NM_020704.2	NP_065755.1			striatin interacting protein 2																		TTTCTTCCTTAGTTTACCCTC	0.517000													5	158					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476132	35476132	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:35476132C>A	ENST00000357182.4	-	10	1635	c.1408G>T	c.(1408-1410)Gca>Tca	p.A470S	ZMYM6_ENST00000487874.1_Missense_Mutation_p.A470S|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A470S	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	470					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TCACACATTGCCACAACTTTA	0.378000													6	105					0.217242	0.21847	1	1	0
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:64389899A>T	ENST00000262043.3	+	3	584		c.e3-1		PHF3_ENST00000509330.1_Splice_Site|PHF3_ENST00000393387.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTTTTCTAGTTGTTGGTC	0.308000													14	154					0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73587898	73587898	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr10:73587898C>A	ENST00000394936.3	-	6	740	c.593G>T	c.(592-594)tGc>tTc	p.C198F	PSAP_ENST00000394934.1_Missense_Mutation_p.C198F			P07602	SAP_HUMAN	prosaposin	198	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GCAGTCCTGGCAAACGTCCCC	0.488000													9	241					0.00621372	0.00635656	1	1	0
NKTR	4820	broad.mit.edu	37	3	42680994	42680994	+	Silent	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:42680994T>A	ENST00000232978.8	+	13	3986	c.3798T>A	c.(3796-3798)atT>atA	p.I1266I	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1266					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAATAGAAATTAAAAGCAAAA	0.443000													6	246					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													11	45					0	0	1	0	0
NPL	80896	broad.mit.edu	37	1	182794914	182794914	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:182794914A>T	ENST00000367554.3	+	10	999		c.e10-1		NPL_ENST00000463899.1_Splice_Site|NPL_ENST00000367553.1_Splice_Site|NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000367552.2_Splice_Site	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)						carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						GTTCTTTTCTAGTTTTGTATC	0.338000													8	313					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49473955	49473955	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:49473955G>A	ENST00000323798.3	-	14	1853	c.1657C>T	c.(1657-1659)Ctt>Ttt	p.L553F	GYS1_ENST00000541188.1_Missense_Mutation_p.L473F|GYS1_ENST00000263276.6_Missense_Mutation_p.L489F|GYS1_ENST00000544287.1_Missense_Mutation_p.L186F	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	553					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	p.L553F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CGCCGGTCAAGAATGTAGATA	0.587000											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	50					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28491151	28491151	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:28491151G>A	ENST00000261609.7	-	23	3561	c.3453C>T	c.(3451-3453)ctC>ctT	p.L1151L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1151					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTCTTGCATGAGACCAGCAT	0.423000													118	122					0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42120363	42120363	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:42120363G>A	ENST00000382448.4	+	1	50	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	JMJD7-PLA2G4B_ENST00000542534.1_Missense_Mutation_p.R14Q|JMJD7_ENST00000397299.4_Missense_Mutation_p.R14Q|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R14Q|JMJD7_ENST00000405106.2_3'UTR|JMJD7_ENST00000408047.1_5'UTR	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		0	C2.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						AGCGAGTTACGAGAATTCCCG	0.716000													5	5					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T	rs143671051	by1000genomes	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142168890C>T	ENST00000454561.2	-	0	155																											GGGCTTGGTCCTCCTGGGGAA	0.592000													13	43					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	33836390	33836390	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:33836390A>T	ENST00000548645.1	+	3	340		c.e3-1		NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000356141.4_Splice_Site|NPAS3_ENST00000341321.4_Splice_Site			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTCTTTTAAGTTATAGGTG	0.368000													6	76					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49288581	49288581	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:49288581A>T	ENST00000559471.1	-	17	2869	c.2606T>A	c.(2605-2607)gTa>gAa	p.V869E	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.V824E	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	869										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTTTTCATTTACTTCAGAGAT	0.343000													6	262					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733656	92733656	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:92733656T>C	ENST00000379958.2	-	3	2024	c.1755A>G	c.(1753-1755)ggA>ggG	p.G585G		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	585						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCTTTCCATCCCTGAAATA	0.378000													9	280					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	153					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48467338	48467338	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:48467338A>T	ENST00000417961.1	+	7	784	c.574A>T	c.(574-576)Att>Ttt	p.I192F	SLC9A8_ENST00000361573.2_Intron|SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000541138.1_Intron	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	178						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTGTGTTTTATTTTACAGGC	0.358000													5	101					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37211377	37211377	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:37211377C>T	ENST00000585696.1	+	3	2888	c.1658C>T	c.(1657-1659)aCg>aTg	p.T553M	ZNF567_ENST00000588311.1_Missense_Mutation_p.T553M|ZNF567_ENST00000536254.2_Missense_Mutation_p.T584M|ZNF567_ENST00000360729.4_Missense_Mutation_p.T553M|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.T553M			Q8N184	ZN567_HUMAN	zinc finger protein 567	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAACTCATACGGGAGAGAAA	0.408000													5	129					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306910	61306910	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr18:61306910A>T	ENST00000341074.5	-	6	685	c.570T>A	c.(568-570)ttT>ttA	p.F190L	SERPINB4_ENST00000356424.6_Missense_Mutation_p.F190L	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTTCTTTTTTAAATTTATTCT	0.294000													4	116					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131127939	131127939	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr8:131127939C>T	ENST00000357668.1	-	22	2134	c.2107G>A	c.(2107-2109)Gta>Ata	p.V703I	ASAP1_ENST00000518721.1_Missense_Mutation_p.V703I			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	703					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCATATTCTACGTGGACGTGT	0.403000													32	324					0	0	0.013726	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													9	71					0	0	0.004482	0	0
CST9L	128821	broad.mit.edu	37	20	23545640	23545640	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:23545640G>A	ENST00000376979.3	-	3	687	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	130						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGTCATCCAGGGCCTGGTGCT	0.552000													94	134					0	0	0.014410	0	0
ABCC11	85320	broad.mit.edu	37	16	48218463	48218463	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:48218463C>A	ENST00000394747.1	-	22	3495	c.3146G>T	c.(3145-3147)aGg>aTg	p.R1049M	ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049M|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049M|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GATCTCCAGCCTCAATGCCAT	0.483000													57	128					2.22609e-26	3.42475e-26	0.014410	1	0
MIR17HG	407975	broad.mit.edu	37	13	92003640	92003640	+	RNA	SNP	G	G	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr13:92003640G>C	ENST00000385233.2	+	0	73					NR_029508.1																						GGCCTGTTGAGTTTGGTGGGG	0.378000													96	20					0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:7579699C>A	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTGTCCTTACCAGAACGTTG	0.597000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			48	8					1.57945e-13	2.3114e-13	0.011902	1	0
C6orf222	389384	broad.mit.edu	37	6	36298372	36298372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:36298372C>T	ENST00000437635.2	-	2	273	c.96G>A	c.(94-96)tgG>tgA	p.W32*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	32										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AATGGCAGTCCCACGACTCCG	0.647000													101	17					0	0	0.014410	0	0
LTBP4	8425	broad.mit.edu	37	19	41133075	41133075	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:41133075G>A	ENST00000308370.7	+	32	4379	c.4379G>A	c.(4378-4380)cGc>cAc	p.R1460H	LTBP4_ENST00000204005.9_Missense_Mutation_p.R1423H|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1393H|LTBP4_ENST00000545697.1_Missense_Mutation_p.R828H|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1461	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTTCGCCCGCCGGGAGGCT	0.657000													19	9					0	0	0.021523	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454064	84454064	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr13:84454064G>A	ENST00000377084.2	-	1	2464	c.1579C>T	c.(1579-1581)Cac>Tac	p.H527Y		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	527						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGTTTCCGTGGAGGTCTATC	0.547000													56	11					0	0	0.014410	0	0
TAT	6898	broad.mit.edu	37	16	71610149	71610149	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:71610149C>T	ENST00000355962.4	-	2	303	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	57					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CACAATGGCTCGGATGGGGTT	0.502000													37	44					0	0	0.014410	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T	rs143671051	by1000genomes	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142168890C>T	ENST00000454561.2	-	0	155																											GGGCTTGGTCCTCCTGGGGAA	0.592000													6	53					0	0	0.006214	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659764	24659764	+	RNA	SNP	C	C	G	rs143464834	by1000genomes	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:24659764C>G	ENST00000414583.2	+	0	3289					NR_003714.1																						AGTGTCCTAACAGCCCTGCTT	0.627000													4	33					0	0	0.014758	0	0
ANXA3	306	broad.mit.edu	37	4	79522703	79522703	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:79522703G>T	ENST00000264908.6	+	11	1149	c.770G>T	c.(769-771)aGa>aTa	p.R257I	ANXA3_ENST00000503570.2_Missense_Mutation_p.R218I|ANXA3_ENST00000512884.1_Missense_Mutation_p.R218I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	257					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTAGCCGAAAGACTGCATCGA	0.388000													80	108					4.4782e-45	7.07084e-45	0.014410	1	0
RSPH3	83861	broad.mit.edu	37	6	159420497	159420497	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:159420497C>T	ENST00000367069.2	-	1	722	c.86G>A	c.(85-87)cGc>cAc	p.R29H	RSPH3_ENST00000297262.3_Missense_Mutation_p.R171H|RSPH3_ENST00000449822.1_Missense_Mutation_p.R29H|RSPH3_ENST00000252655.1_Missense_Mutation_p.R171H|RP1-111C20.4_ENST00000607391.1_RNA			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	171										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTAACGGCTGCGCTGGCAGGG	0.687000													4	36					0	0	0.009096	0	0
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	A	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130207140A>G	ENST00000342483.5	+	5	1567	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_ENST00000543471.1_Silent_p.K363K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532000													7	148					0	0	0.004482	0	0
GABRG3	2567	broad.mit.edu	37	15	27777970	27777970	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:27777970C>T	ENST00000333743.6	+	10	1601	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	449					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GGGTCTTTTTCCCCACGTCCT	0.473000													53	35					0	0	0.014410	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084094	26084094	+	RNA	SNP	T	T	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:26084094T>C	ENST00000478176.1	-	0	363					NR_003678.1																						aaaacataCATTCTTAGAATA	0.299000													6	81					0	0	0.006214	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169227	50169227	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:50169227G>A	ENST00000246785.3	+	1	405	c.147G>A	c.(145-147)gtG>gtA	p.V49V	BCL2L12_ENST00000441864.2_Silent_p.V49V|BCL2L12_ENST00000246784.3_Silent_p.V49V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	49					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCGGCCCAGTGCGCAGGCGCG	0.617000													26	50					0	0	0.021523	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28219931	28219931	+	Translation_Start_Site	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:28219931G>A	ENST00000377294.2	-	0	71				ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTTATAGTCCGTGCCTTTGCA	0.537000													6	0					0	0	0.021553	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476132	35476132	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:35476132C>A	ENST00000357182.4	-	10	1635	c.1408G>T	c.(1408-1410)Gca>Tca	p.A470S	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.A470S|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A470S	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	470					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TCACACATTGCCACAACTTTA	0.378000													6	150					3.59834e-05	5.14048e-05	0.021553	1	0
TRPM3	80036	broad.mit.edu	37	9	73206031	73206031	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:73206031C>G	ENST00000377110.2	-	21	3346	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	TRPM3_ENST00000360823.2_Missense_Mutation_p.E897Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1062Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E907Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1039Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E894Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E897Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E907Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E894Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E884Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1035Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E882Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1060						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATGATGGCTCCTCATTGGGA	0.458000													17	254					0	0	0.004990	0	0
ELP4	26610	broad.mit.edu	37	11	31616324	31616324	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:31616324C>T	ENST00000395934.2	+	4	396	c.389C>T	c.(388-390)cCa>cTa	p.P130L	ELP4_ENST00000350638.5_Missense_Mutation_p.P130L|ELP4_ENST00000379163.5_Missense_Mutation_p.P130L			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	130					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TAGGAACTTCCAGCACCATTA	0.284000													42	86					0	0	0.014410	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038421	14038421	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:14038421C>A	ENST00000380523.4	-	4	566	c.248G>T	c.(247-249)tGg>tTg	p.W83L	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.W83L	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	83					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GTAGTCCTGCCAGGCCACATG	0.488000													226	19					2.9979e-95	4.86147e-95	0.014410	1	0
XPC	7508	broad.mit.edu	37	3	14220061	14220061	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:14220061C>G	ENST00000285021.7	-	1	222	c.8G>C	c.(7-9)cGg>cCg	p.R3P	XPC_ENST00000449060.2_Missense_Mutation_p.R3P|LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	3					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGCGCGTTTCCGAGCCATGTT	0.701000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	23					0	0	0.010729	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													5	64					0	0	0.003080	0	0
GRM6	2916	broad.mit.edu	37	5	178410177	178410177	+	Missense_Mutation	SNP	C	C	T	rs151103990	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:178410177C>T	ENST00000231188.5	-	9	2348	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V724M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	724					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGTCAATCACGCTGTGTGGG	0.607000													39	60					0	0	0.013114	0	0
ABCC11	85320	broad.mit.edu	37	16	48218462	48218462	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:48218462C>A	ENST00000394747.1	-	22	3496	c.3147G>T	c.(3145-3147)agG>agT	p.R1049S	ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049S|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGATCTCCAGCCTCAATGCCA	0.483000													56	132					2.69953e-25	4.0493e-25	0.014410	1	0
ZNF79	7633	broad.mit.edu	37	9	130207131	130207131	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130207131T>C	ENST00000342483.5	+	5	1558	c.1152T>C	c.(1150-1152)acT>acC	p.T384T	ZNF79_ENST00000543471.1_Silent_p.T360T	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GGACTCACACTGGGGAGAAAC	0.547000													7	134					0	0	0.004482	0	0
PRKACB	5567	broad.mit.edu	37	1	84700917	84700917	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:84700917G>C	ENST00000370689.2	+	10	1249	c.985G>C	c.(985-987)Gat>Cat	p.D329H	PRKACB_ENST00000370685.3_Missense_Mutation_p.D376H|PRKACB_ENST00000394839.2_Missense_Mutation_p.D299H|PRKACB_ENST00000394838.2_Missense_Mutation_p.D336H|PRKACB_ENST00000370682.3_Missense_Mutation_p.D333H	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	329	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CAGCAACTTTGATGACTATGA	0.343000													5	103					0	0	0.021553	0	0
HERC2	8924	broad.mit.edu	37	15	28491151	28491151	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:28491151G>A	ENST00000261609.7	-	23	3561	c.3453C>T	c.(3451-3453)ctC>ctT	p.L1151L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1151					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTCTTGCATGAGACCAGCAT	0.423000													61	62					0	0	0.014410	0	0
KIF5A	3798	broad.mit.edu	37	12	57972099	57972099	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:57972099G>A	ENST00000455537.2	+	23	2786	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	838					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAACAACCTGGAACAGCTTAC	0.473000													86	111					0	0	0.014410	0	0
ANAPC4	29945	broad.mit.edu	37	4	25384881	25384881	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:25384881A>T	ENST00000315368.3	+	4	377		c.e4-1		ANAPC4_ENST00000510092.1_Splice_Site	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTCTTGTTTTAGTTTTGGCCT	0.343000													6	105					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306911	61306911	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr18:61306911A>T	ENST00000341074.5	-	6	684	c.569T>A	c.(568-570)tTt>tAt	p.F190Y	SERPINB4_ENST00000356424.6_Missense_Mutation_p.F190Y	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTCTTTTTTAAATTTATTCTC	0.299000													4	116					0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23545640	23545640	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:23545640G>A	ENST00000376979.3	-	3	687	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	130						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGTCATCCAGGGCCTGGTGCT	0.552000													121	159					0	0	1	0	0
MND1	84057	broad.mit.edu	37	4	154276832	154276832	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:154276832G>A	ENST00000240488.3	+	3	185	c.96G>A	c.(94-96)ttG>ttA	p.L32L	MND1_ENST00000504860.1_Silent_p.L17L|MND1_ENST00000503967.1_3'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	32					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TAAAAGACTTGGAGAAGATTG	0.279000													4	145					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123336532	123336532	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:123336532A>T	ENST00000296513.2	+	11	1434		c.e11-1		ADAD1_ENST00000388725.2_Splice_Site|ADAD1_ENST00000388724.2_Splice_Site	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)						multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGCTTTCTAGGTGATGGGA	0.343000													5	229					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38808503	38808503	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:38808503A>T	ENST00000310803.5	-	6	747	c.570T>A	c.(568-570)aaT>aaA	p.N190K	RASGRP1_ENST00000539159.1_Missense_Mutation_p.N142K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.N190K|RASGRP1_ENST00000450598.2_Missense_Mutation_p.N190K|RASGRP1_ENST00000558164.1_Missense_Mutation_p.N190K|RASGRP1_ENST00000561180.1_Missense_Mutation_p.N241K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	190					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTTGCTGGTATTTGATTTTA	0.458000													7	282					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48218463	48218463	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:48218463C>A	ENST00000394747.1	-	22	3495	c.3146G>T	c.(3145-3147)aGg>aTg	p.R1049M	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049M|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049M|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GATCTCCAGCCTCAATGCCAT	0.483000													143	201					8.59004e-37	9.66379e-37	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50724784	50724784	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr2:50724784G>A	ENST00000404971.1	-	15	4025	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W	NRXN1_ENST00000405472.3_Missense_Mutation_p.R848W|NRXN1_ENST00000406316.2_Missense_Mutation_p.R856W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R856W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R856W|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.R848W	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	856					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R856W(1)|p.R897W(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAAGATACCGTCGTTCTGTG	0.403000													8	207					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	309548	309548	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:309548A>T	ENST00000399932.3	+	4	786	c.335A>T	c.(334-336)tAt>tTt	p.Y112F	ITFG3_ENST00000301678.3_Missense_Mutation_p.Y112F|ITFG3_ENST00000301679.2_Missense_Mutation_p.Y112F|ITFG3_ENST00000600536.1_Missense_Mutation_p.Y112F|ITFG3_ENST00000450082.2_Missense_Mutation_p.Y112F|ITFG3_ENST00000442458.2_Missense_Mutation_p.Y112F			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	112						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CTTTTTCTTTATAAAAACACC	0.413000													10	320					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7046368	7046368	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr18:7046368T>A	ENST00000389658.3	-	6	862		c.e6-2			NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATAATAATACTAAGGAAAAAG	0.338000													5	121					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169227	50169227	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:50169227G>A	ENST00000246785.3	+	1	405	c.147G>A	c.(145-147)gtG>gtA	p.V49V	BCL2L12_ENST00000441864.2_Silent_p.V49V|BCL2L12_ENST00000246784.3_Silent_p.V49V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	49					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCGGCCCAGTGCGCAGGCGCG	0.617000													6	8					0	0	1	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28219931	28219931	+	Translation_Start_Site	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:28219931G>A	ENST00000377294.2	-	0	71				ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTTATAGTCCGTGCCTTTGCA	0.537000													6	2					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298372	36298372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:36298372C>T	ENST00000437635.2	-	2	273	c.96G>A	c.(94-96)tgG>tgA	p.W32*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	32										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AATGGCAGTCCCACGACTCCG	0.647000													78	17					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62888824	62888824	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:62888824T>G	ENST00000393630.3	+	4	723	c.332T>G	c.(331-333)cTt>cGt	p.L111R	MON2_ENST00000546600.1_Missense_Mutation_p.L111R|MON2_ENST00000393632.2_Missense_Mutation_p.L111R|MON2_ENST00000552115.1_Missense_Mutation_p.L111R|MON2_ENST00000552738.1_Missense_Mutation_p.L111R|MON2_ENST00000549378.1_Intron|MON2_ENST00000280379.6_Missense_Mutation_p.L111R|MON2_ENST00000393629.2_Missense_Mutation_p.L111R	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	111					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATTAACATGCTTTGGCAGCTA	0.318000													4	95					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73206031	73206031	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:73206031C>G	ENST00000377110.2	-	21	3346	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	TRPM3_ENST00000360823.2_Missense_Mutation_p.E897Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E882Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E907Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E907Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E897Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E884Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1035Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E894Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1039Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1062Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E894Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1060						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATGATGGCTCCTCATTGGGA	0.458000													31	533					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31616324	31616324	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:31616324C>T	ENST00000395934.2	+	4	396	c.389C>T	c.(388-390)cCa>cTa	p.P130L	ELP4_ENST00000350638.5_Missense_Mutation_p.P130L|ELP4_ENST00000379163.5_Missense_Mutation_p.P130L			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	130					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TAGGAACTTCCAGCACCATTA	0.284000													59	84					0	0	1	0	0
IFITM1	8519	broad.mit.edu	37	11	314263	314263	+	Silent	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:314263C>A	ENST00000408968.3	+	1	411	c.93C>A	c.(91-93)acC>acA	p.T31T	IFITM1_ENST00000528780.1_Silent_p.T31T|IFITM1_ENST00000328221.5_Silent_p.T31T	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	31					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACAGCGAGACCTCCGTGCCCG	0.582000													3	113					1	1	1	1	0
GRM6	2916	broad.mit.edu	37	5	178410177	178410177	+	Missense_Mutation	SNP	C	C	T	rs151103990	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr5:178410177C>T	ENST00000231188.5	-	9	2348	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	GRM6_ENST00000517717.1_Missense_Mutation_p.V724M|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	724					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGTCAATCACGCTGTGTGGG	0.607000													5	25					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19752564	19752564	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr22:19752564C>T	ENST00000332710.4	+	6	897	c.768C>T	c.(766-768)gcC>gcT	p.A256A	TBX1_ENST00000329705.7_Silent_p.A256A|TBX1_ENST00000359500.3_Silent_p.A256A	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	256					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				AGAAATATGCCGAGGAGAACT	0.542000													3	91					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	A	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:130207140A>G	ENST00000342483.5	+	5	1567	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_ENST00000543471.1_Silent_p.K363K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532000													9	240					0	0	1	0	0
MORF4L1	10933	broad.mit.edu	37	15	79186408	79186408	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:79186408C>T	ENST00000331268.5	+	11	959	c.755C>T	c.(754-756)gCg>gTg	p.A252V	MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	252	Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AGGGAGTATGCGGTTAATGAA	0.333000													4	150					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131127939	131127939	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr8:131127939C>T	ENST00000357668.1	-	22	2134	c.2107G>A	c.(2107-2109)Gta>Ata	p.V703I	ASAP1_ENST00000518721.1_Missense_Mutation_p.V703I			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	703					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCATATTCTACGTGGACGTGT	0.403000													24	287					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73745660	73745660	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chrX:73745660G>T	ENST00000276033.5	+	4	1490	c.1324G>T	c.(1324-1326)Ggc>Tgc	p.G442C	SLC16A2_ENST00000587091.1_Missense_Mutation_p.G368C			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	368						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	GGCTACCTCAGGCCTTGGGCG	0.517000													5	176					5.9392e-07	6.41434e-07	1	1	0
RPTOR	57521	broad.mit.edu	37	17	78854281	78854281	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr17:78854281T>C	ENST00000306801.3	+	14	1938	c.1576T>C	c.(1576-1578)Tac>Cac	p.Y526H	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	526					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCGGACCCCTACATGCCAGT	0.632000													2	13					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr17:7579699C>A	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTGTCCTTACCAGAACGTTG	0.597000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			183	28					4.76554e-48	5.4753e-48	1	1	0
LTBP4	8425	broad.mit.edu	37	19	41133075	41133075	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:41133075G>A	ENST00000308370.7	+	32	4379	c.4379G>A	c.(4378-4380)cGc>cAc	p.R1460H	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1393H|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1423H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.R828H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1461	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTTCGCCCGCCGGGAGGCT	0.657000													4	4					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106640215	106640215	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:106640215A>T	ENST00000515279.1	+	3	646		c.e3-1		GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Splice_Site|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing							cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTTGTTTTGTAGGTTAGTCAG	0.338000													7	270					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113599447	113599447	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr8:113599447C>T	ENST00000297405.5	-	23	3977	c.3733G>A	c.(3733-3735)Gca>Aca	p.A1245T	CSMD3_ENST00000352409.3_Missense_Mutation_p.A1245T|CSMD3_ENST00000343508.3_Missense_Mutation_p.A1205T|CSMD3_ENST00000455883.2_Missense_Mutation_p.A1141T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1245	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATTCGTTGCAGATGCACCA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	101					0	0	1	0	0
CSTA	1475	broad.mit.edu	37	3	122056392	122056392	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:122056392A>T	ENST00000479204.1	+	2	97		c.e2-1		CSTA_ENST00000264474.3_Splice_Site			P01040	CYTA_HUMAN	cystatin A (stefin A)						keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		TCTTTTCTTTAGGTTAAACCA	0.348000													7	343					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991000	21991000	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:21991000T>C	ENST00000594012.1	-	7	2335	c.1821A>G	c.(1819-1821)aaA>aaG	p.K607K	ZNF43_ENST00000354959.4_Silent_p.K613K|ZNF43_ENST00000595461.1_Silent_p.K607K|ZNF43_ENST00000598381.1_Silent_p.K607K	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGAATTTTTTTATGTGTAG	0.338000													3	121					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454064	84454064	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:84454064G>A	ENST00000377084.2	-	1	2464	c.1579C>T	c.(1579-1581)Cac>Tac	p.H527Y		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	527						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGTTTCCGTGGAGGTCTATC	0.547000													34	6					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18451282	18451282	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:18451282A>T	ENST00000541669.1	+	4	355		c.e4-1		LDHC_ENST00000544105.1_Splice_Site|LDHC_ENST00000536880.1_Intron|LDHC_ENST00000535809.1_Splice_Site|LDHC_ENST00000280704.4_Splice_Site|LDHC_ENST00000537486.1_Splice_Site|LDHC_ENST00000546146.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C						glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TTTCCTTTTTAGATTACAGTG	0.383000													6	191					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38565673	38565673	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:38565673G>T	ENST00000287675.5	+	6	1023	c.927G>T	c.(925-927)ttG>ttT	p.L309F	EXOG_ENST00000422077.2_Missense_Mutation_p.L259F|EXOG_ENST00000358249.2_Intron	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	309				L -> S (in Ref. 2; BAF82796).		mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						AGTTCACCTTGTACTTGAGTA	0.428000													8	488					3.09899e-07	3.38071e-07	1	1	0
WRN	7486	broad.mit.edu	37	8	30945375	30945375	+	Silent	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr8:30945375T>A	ENST00000298139.5	+	12	1764	c.1515T>A	c.(1513-1515)acT>acA	p.T505T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	505					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTCTTCCTACTAaagaagaag	0.353000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	209					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952245	119952245	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:119952245C>G	ENST00000307142.4	+	4	2511	c.2315C>G	c.(2314-2316)cCa>cGa	p.P772R	SYNPO2_ENST00000434046.2_Missense_Mutation_p.P772R|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P772R	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	772	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCTCCCAACCAGTAACTCCA	0.557000													6	280					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ttTTCTTTTTAGGTTGTAGAC	0.398000													4	109					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27777970	27777970	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:27777970C>T	ENST00000333743.6	+	10	1601	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	449					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GGGTCTTTTTCCCCACGTCCT	0.473000													50	40					0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	216981499	216981499	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr2:216981499C>G	ENST00000392133.3	+	5	714	c.253C>G	c.(253-255)Cta>Gta	p.L85V	XRCC5_ENST00000392132.2_Missense_Mutation_p.L85V			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	85					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ACATCTGATGCTACCAGATTT	0.438000								Non-homologous end-joining					6	288					0	0	1	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038421	14038421	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chrX:14038421C>A	ENST00000380523.4	-	4	566	c.248G>T	c.(247-249)tGg>tTg	p.W83L	GEMIN8_ENST00000398355.3_Missense_Mutation_p.W83L|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	83					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GTAGTCCTGCCAGGCCACATG	0.488000													183	14					1.595e-65	1.85226e-65	1	1	0
ABCC11	85320	broad.mit.edu	37	16	48218462	48218462	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:48218462C>A	ENST00000394747.1	-	22	3496	c.3147G>T	c.(3145-3147)agG>agT	p.R1049S	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049S|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049S|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGATCTCCAGCCTCAATGCCA	0.483000													143	207					5.90745e-37	6.71584e-37	1	1	0
ACVR1C	130399	broad.mit.edu	37	2	158397620	158397620	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr2:158397620G>A	ENST00000243349.7	-	7	1567	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W	ACVR1C_ENST00000409680.3_Missense_Mutation_p.R353W|ACVR1C_ENST00000335450.7_Missense_Mutation_p.R323W|ACVR1C_ENST00000348328.5_Missense_Mutation_p.R246W	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	403	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GAACACCTCCGGGCTATTTCC	0.393000													5	215					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142733221	142733221	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:142733221T>A	ENST00000473835.2	+	4	381	c.291T>A	c.(289-291)agT>agA	p.S97R	U2SURP_ENST00000493598.2_Missense_Mutation_p.S97R|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	97					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAACTTTAAGTAAAAAGGAAC	0.299000													4	131					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66548462	66548462	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr7:66548462C>A	ENST00000359626.5	+	11	1484	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	440					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.D440E(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GGAAGATGGACCAGCCTGAAA	0.443000													5	268					0.00307968	0.00326084	1	1	0
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3							cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303000									Hermansky-Pudlak syndrome				9	284					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71610149	71610149	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:71610149C>T	ENST00000355962.4	-	2	303	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	57					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CACAATGGCTCGGATGGGGTT	0.502000													41	36					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142490816	142490816	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:142490816T>A	ENST00000367630.4	+	3	393		c.e3+2		VTA1_ENST00000452973.2_Splice_Site|VTA1_ENST00000367621.1_Splice_Site	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1						cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATTTCACAAGTAAGTAAAGAG	0.303000													3	31					0	0	1	0	0
MIR17HG	407975	broad.mit.edu	37	13	92003640	92003640	+	RNA	SNP	G	G	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:92003640G>C	ENST00000385233.2	+	0	73					NR_029508.1																						GGCCTGTTGAGTTTGGTGGGG	0.378000													34	12					0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79522703	79522703	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:79522703G>T	ENST00000264908.6	+	11	1149	c.770G>T	c.(769-771)aGa>aTa	p.R257I	ANXA3_ENST00000503570.2_Missense_Mutation_p.R218I|ANXA3_ENST00000512884.1_Missense_Mutation_p.R218I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	257					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTAGCCGAAAGACTGCATCGA	0.388000													161	241					2.08959e-108	2.453e-108	1	1	0
RBMX2	51634	broad.mit.edu	37	X	129545472	129545472	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chrX:129545472G>A	ENST00000305536.6	+	5	518	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	152							nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CTCTGAAGATGAAAAACCAAC	0.428000													4	130					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104098109	104098109	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:104098109A>T	ENST00000265148.3	-	14	1426	c.1337T>A	c.(1336-1338)aTa>aAa	p.I446K	CENPE_ENST00000380026.3_Missense_Mutation_p.I446K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	446					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTTGTTGTTATATTTGTTGG	0.289000													6	100					0	0	1	0	0
PLSCR2	57047	broad.mit.edu	37	3	146171870	146171870	+	Silent	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:146171870A>T	ENST00000497985.1	-	7	1060	c.621T>A	c.(619-621)atT>atA	p.I207I	PLSCR2_ENST00000336685.2_Silent_p.I134I	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	134					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TCTGATTTTTAATTGTAAACT	0.378000													4	114					0	0	1	0	0
CCDC89	220388	broad.mit.edu	37	11	85396537	85396537	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:85396537C>G	ENST00000316398.3	-	1	783	c.637G>C	c.(637-639)Gag>Cag	p.E213Q		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	213						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTCTGTAGCTCCAGCAGCTCC	0.637000													6	164					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408000													8	412					0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29019452	29019452	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:29019452A>T	ENST00000373816.1	+	5	474		c.e5-1		GMEB1_ENST00000480454.1_Splice_Site|GMEB1_ENST00000294409.2_Splice_Site|GMEB1_ENST00000361872.4_Splice_Site	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTACTTTTAGTTCAATGAT	0.403000													4	90					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74920195	74920195	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr10:74920195G>C	ENST00000372979.4	-	3	526	c.320C>G	c.(319-321)gCa>gGa	p.A107G	ECD_ENST00000430082.1_Missense_Mutation_p.A107G|ECD_ENST00000454759.1_Missense_Mutation_p.A107G	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	107					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					ACAATACCTTGCTACTAACTC	0.294000													3	50					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110087930	110087930	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:110087930A>T	ENST00000230124.3	+	15	1707		c.e15-1		FIG4_ENST00000441478.2_Splice_Site	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)						cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTCTTTTTTTAGGTTATTTGA	0.343000													6	144					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130207131	130207131	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:130207131T>C	ENST00000342483.5	+	5	1558	c.1152T>C	c.(1150-1152)acT>acC	p.T384T	ZNF79_ENST00000543471.1_Silent_p.T360T	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GGACTCACACTGGGGAGAAAC	0.547000													8	267					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130897742	130897742	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr5:130897742T>A	ENST00000509018.1	-	5	487		c.e5-2		RAPGEF6_ENST00000507093.1_Splice_Site|RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000308008.6_Splice_Site|RAPGEF6_ENST00000503398.2_Intron|FNIP1_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000307984.5_Splice_Site	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6						Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTACCAAAACTATAAAAACAG	0.284000													5	228					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57972099	57972099	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:57972099G>A	ENST00000455537.2	+	23	2786	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	838					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAACAACCTGGAACAGCTTAC	0.473000													347	397					0	0	1	0	0
RPS9	6203	broad.mit.edu	37	19	54710275	54710275	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:54710275G>T	ENST00000402367.1	+	4	467	c.352G>T	c.(352-354)Ggc>Tgc	p.G118C	RPS9_ENST00000302907.4_Missense_Mutation_p.G118C|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000441429.1_Missense_Mutation_p.G118C|RPS9_ENST00000391752.1_Missense_Mutation_p.G118C|RPS9_ENST00000391753.2_Missense_Mutation_p.G118C			P46781	RS9_HUMAN	ribosomal protein S9	118	S4 RNA-binding.				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		CTTCAAGCTGGGCTTGGCCAA	0.582000													3	58					0.004672	0.0048988	1	1	0
TARS	6897	broad.mit.edu	37	5	33467663	33467663	+	Splice_Site	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr5:33467663A>T	ENST00000265112.3	+	19	2334		c.e19-1		TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000502553.1_Splice_Site|TARS_ENST00000414361.2_Splice_Site	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase						threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGTTTGTTTTAGTTGTTGGTG	0.408000													5	118					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61526240	61526240	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:61526240G>C	ENST00000266070.4	-	10	2683	c.2358C>G	c.(2356-2358)caC>caG	p.H786Q	DIDO1_ENST00000395335.2_Missense_Mutation_p.H786Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.H786Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.H786Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	786	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCTTTCATTGTGCAGTTTAG	0.498000													11	112					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41815528	41815528	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:41815528G>T	ENST00000304330.4	-	18	2577	c.2461C>A	c.(2461-2463)Ctc>Atc	p.L821I	RPAP1_ENST00000561603.1_Missense_Mutation_p.L821I	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	821						nucleus	DNA binding|DNA-directed RNA polymerase activity	p.L821I(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGTCCTGGAGCCAATCCTCC	0.577000													4	26					1.024e-07	1.12849e-07	1	1	0
RSPH3	83861	broad.mit.edu	37	6	159420497	159420497	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:159420497C>T	ENST00000367069.2	-	1	722	c.86G>A	c.(85-87)cGc>cAc	p.R29H	RSPH3_ENST00000252655.1_Missense_Mutation_p.R171H|RSPH3_ENST00000297262.3_Missense_Mutation_p.R171H|RSPH3_ENST00000449822.1_Missense_Mutation_p.R29H|RP1-111C20.4_ENST00000607391.1_RNA			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	171										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTAACGGCTGCGCTGGCAGGG	0.687000													6	16					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829568	146829568	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr7:146829568C>A	ENST00000361727.3	+	8	1831	c.1315C>A	c.(1315-1317)Cag>Aag	p.Q439K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	439	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.Q439K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAACATCACACAGACCAAGAT	0.423000										HNSCC(39;0.1)			6	220					0.0293803	0.0302198	1	1	0
KATNA1	11104	broad.mit.edu	37	6	149944257	149944257	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:149944257A>T	ENST00000367411.2	-	4	741	c.483T>A	c.(481-483)aaT>aaA	p.N161K	KATNA1_ENST00000335647.5_Missense_Mutation_p.N161K|KATNA1_ENST00000335643.8_Missense_Mutation_p.N161K	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	161	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CTCTTCCTTTATTCTGTTCTT	0.323000													4	100					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169487716	169487716	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:169487716T>C	ENST00000367796.3	-	23	6495	c.6294A>G	c.(6292-6294)ggA>ggG	p.G2098G	F5_ENST00000367797.3_Silent_p.G2093G			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2093	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCCAGTAATCTCCCCACCAAG	0.463000													3	101					0	0	1	0	0
DENND6A	201627	broad.mit.edu	37	3	57644909	57644909	+	Splice_Site	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:57644909T>A	ENST00000311128.5	-	8	770		c.e8-2			NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		AATCCGTACCTAAAAGAAAGA	0.403000													7	297					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34642995	34642995	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:34642995C>T	ENST00000537011.1	+	4	1282	c.900C>T	c.(898-900)agC>agT	p.S300S	NUTM1_ENST00000438749.3_Silent_p.S290S|NUTM1_ENST00000333756.4_Silent_p.S272S					NUT midline carcinoma, family member 1																		AGCACACCAGCAACTTTGACC	0.567000													3	82					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476132	35476132	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:35476132C>A	ENST00000357182.4	-	10	1635	c.1408G>T	c.(1408-1410)Gca>Tca	p.A470S	ZMYM6_ENST00000373340.2_Missense_Mutation_p.A470S|ZMYM6_ENST00000487874.1_Missense_Mutation_p.A470S|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	470					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TCACACATTGCCACAACTTTA	0.378000													6	105					0.217242	0.219273	1	1	0
PSAP	5660	broad.mit.edu	37	10	73587898	73587898	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr10:73587898C>A	ENST00000394936.3	-	6	740	c.593G>T	c.(592-594)tGc>tTc	p.C198F	PSAP_ENST00000394934.1_Missense_Mutation_p.C198F			P07602	SAP_HUMAN	prosaposin	198	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GCAGTCCTGGCAAACGTCCCC	0.488000													9	241					0.00621372	0.00645271	1	1	0
NKTR	4820	broad.mit.edu	37	3	42680994	42680994	+	Silent	SNP	T	T	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:42680994T>A	ENST00000232978.8	+	13	3986	c.3798T>A	c.(3796-3798)atT>atA	p.I1266I	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1266					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAATAGAAATTAAAAGCAAAA	0.443000													6	246					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493522	60493522	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr17:60493522T>C	ENST00000450662.2	+	12	1376	c.1305T>C	c.(1303-1305)aaT>aaC	p.N435N	EFCAB3_ENST00000305286.3_Silent_p.N383N	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	383							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GGTCCTGGAATGTTTGCCAAG	0.403000													3	79					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49473955	49473955	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:49473955G>A	ENST00000323798.3	-	14	1853	c.1657C>T	c.(1657-1659)Ctt>Ttt	p.L553F	GYS1_ENST00000541188.1_Missense_Mutation_p.L473F|GYS1_ENST00000544287.1_Missense_Mutation_p.L186F|GYS1_ENST00000263276.6_Missense_Mutation_p.L489F	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	553					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	p.L553F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CGCCGGTCAAGAATGTAGATA	0.587000											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	50					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28491151	28491151	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:28491151G>A	ENST00000261609.7	-	23	3561	c.3453C>T	c.(3451-3453)ctC>ctT	p.L1151L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1151					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTCTTGCATGAGACCAGCAT	0.423000													118	122					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733656	92733656	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr7:92733656T>C	ENST00000379958.2	-	3	2024	c.1755A>G	c.(1753-1755)ggA>ggG	p.G585G		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	585						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCTTTCCATCCCTGAAATA	0.378000													9	280					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	153					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48467338	48467338	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:48467338A>T	ENST00000417961.1	+	7	784	c.574A>T	c.(574-576)Att>Ttt	p.I192F	SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000361573.2_Intron	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	178						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTGTGTTTTATTTTACAGGC	0.358000													5	101					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37211377	37211377	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:37211377C>T	ENST00000585696.1	+	3	2888	c.1658C>T	c.(1657-1659)aCg>aTg	p.T553M	ZNF567_ENST00000588311.1_Missense_Mutation_p.T553M|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.T553M|ZNF567_ENST00000536254.2_Missense_Mutation_p.T584M|ZNF567_ENST00000392163.2_Missense_Mutation_p.T553M			Q8N184	ZN567_HUMAN	zinc finger protein 567	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAACTCATACGGGAGAGAAA	0.408000													5	129					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131127939	131127939	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr8:131127939C>T	ENST00000357668.1	-	22	2134	c.2107G>A	c.(2107-2109)Gta>Ata	p.V703I	ASAP1_ENST00000518721.1_Missense_Mutation_p.V703I			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	703					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCATATTCTACGTGGACGTGT	0.403000													32	324					0	0	0.013726	0	0
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	A	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:130207140A>G	ENST00000342483.5	+	5	1567	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_ENST00000543471.1_Silent_p.K363K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532000													7	148					0	0	0.004482	0	0
ABCC11	85320	broad.mit.edu	37	16	48218463	48218463	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:48218463C>A	ENST00000394747.1	-	22	3495	c.3146G>T	c.(3145-3147)aGg>aTg	p.R1049M	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049M|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049M|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049M	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GATCTCCAGCCTCAATGCCAT	0.483000													57	128					2.22609e-26	3.28348e-26	0.014410	1	0
MIR17HG	407975	broad.mit.edu	37	13	92003640	92003640	+	RNA	SNP	G	G	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:92003640G>C	ENST00000385233.2	+	0	73					NR_029508.1																						GGCCTGTTGAGTTTGGTGGGG	0.378000													96	20					0	0	0.014410	0	0
C6orf222	389384	broad.mit.edu	37	6	36298372	36298372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:36298372C>T	ENST00000437635.2	-	2	273	c.96G>A	c.(94-96)tgG>tgA	p.W32*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	32										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AATGGCAGTCCCACGACTCCG	0.647000													101	17					0	0	0.014410	0	0
LTBP4	8425	broad.mit.edu	37	19	41133075	41133075	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:41133075G>A	ENST00000308370.7	+	32	4379	c.4379G>A	c.(4378-4380)cGc>cAc	p.R1460H	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1393H|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1423H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.R828H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1461	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTTCGCCCGCCGGGAGGCT	0.657000													19	9					0	0	0.021523	0	0
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:46279830G>A	ENST00000372004.3	+	20	3960	c.3744G>A	c.(3742-3744)caG>caA	p.Q1248Q	NCOA3_ENST00000371997.3_Silent_p.Q1243Q|NCOA3_ENST00000371998.3_Silent_p.Q1252Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1252	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547000													3	25					0	0	0.009096	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454064	84454064	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:84454064G>A	ENST00000377084.2	-	1	2464	c.1579C>T	c.(1579-1581)Cac>Tac	p.H527Y		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	527						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGTTTCCGTGGAGGTCTATC	0.547000													56	11					0	0	0.014410	0	0
TAT	6898	broad.mit.edu	37	16	71610149	71610149	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:71610149C>T	ENST00000355962.4	-	2	303	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	57					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CACAATGGCTCGGATGGGGTT	0.502000													37	44					0	0	0.014410	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205098	23205098	+	RNA	SNP	G	G	A	rs146035894	by1000genomes	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:23205098G>A	ENST00000400153.2	-	0	756					NR_003521.1																						CTGGAAGAACGTGGTTGCCAC	0.373000													5	26					0	0	0.014758	0	0
ANXA3	306	broad.mit.edu	37	4	79522703	79522703	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:79522703G>T	ENST00000264908.6	+	11	1149	c.770G>T	c.(769-771)aGa>aTa	p.R257I	ANXA3_ENST00000503570.2_Missense_Mutation_p.R218I|ANXA3_ENST00000512884.1_Missense_Mutation_p.R218I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	257					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTAGCCGAAAGACTGCATCGA	0.388000													80	108					4.4782e-45	6.77471e-45	0.014410	1	0
RSPH3	83861	broad.mit.edu	37	6	159420497	159420497	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:159420497C>T	ENST00000367069.2	-	1	722	c.86G>A	c.(85-87)cGc>cAc	p.R29H	RSPH3_ENST00000297262.3_Missense_Mutation_p.R171H|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_Missense_Mutation_p.R29H|RSPH3_ENST00000252655.1_Missense_Mutation_p.R171H			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	171										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTAACGGCTGCGCTGGCAGGG	0.687000													4	36					0	0	0.009096	0	0
GABRG3	2567	broad.mit.edu	37	15	27777970	27777970	+	Silent	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:27777970C>T	ENST00000333743.6	+	10	1601	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	449					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GGGTCTTTTTCCCCACGTCCT	0.473000													53	35					0	0	0.014410	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169227	50169227	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:50169227G>A	ENST00000246785.3	+	1	405	c.147G>A	c.(145-147)gtG>gtA	p.V49V	BCL2L12_ENST00000441864.2_Silent_p.V49V|BCL2L12_ENST00000246784.3_Silent_p.V49V	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	49					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCGGCCCAGTGCGCAGGCGCG	0.617000													26	50					0	0	0.021523	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28219931	28219931	+	Translation_Start_Site	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:28219931G>A	ENST00000377294.2	-	0	71				ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTTATAGTCCGTGCCTTTGCA	0.537000													6	0					0	0	0.021553	0	0
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr17:7579699C>A	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTGTCCTTACCAGAACGTTG	0.597000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			48	8					1.57945e-13	2.21876e-13	0.011902	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	26					0	0	0.009096	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476132	35476132	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:35476132C>A	ENST00000357182.4	-	10	1635	c.1408G>T	c.(1408-1410)Gca>Tca	p.A470S	ZMYM6_ENST00000487874.1_Missense_Mutation_p.A470S|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A470S	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	470					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TCACACATTGCCACAACTTTA	0.378000													6	150					3.59834e-05	4.93725e-05	0.021553	1	0
TRPM3	80036	broad.mit.edu	37	9	73206031	73206031	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:73206031C>G	ENST00000377110.2	-	21	3346	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	TRPM3_ENST00000396285.1_Missense_Mutation_p.E882Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.E897Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E907Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1039Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E897Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E884Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E894Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E907Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1062Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E894Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1035Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1060						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATGATGGCTCCTCATTGGGA	0.458000													17	254					0	0	0.004990	0	0
ELP4	26610	broad.mit.edu	37	11	31616324	31616324	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:31616324C>T	ENST00000395934.2	+	4	396	c.389C>T	c.(388-390)cCa>cTa	p.P130L	ELP4_ENST00000379163.5_Missense_Mutation_p.P130L|ELP4_ENST00000350638.5_Missense_Mutation_p.P130L			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	130					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TAGGAACTTCCAGCACCATTA	0.284000													42	86					0	0	0.014410	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038421	14038421	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chrX:14038421C>A	ENST00000380523.4	-	4	566	c.248G>T	c.(247-249)tGg>tTg	p.W83L	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.W83L	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	83					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GTAGTCCTGCCAGGCCACATG	0.488000													226	19					2.9979e-95	4.65464e-95	0.014410	1	0
CST9L	128821	broad.mit.edu	37	20	23545640	23545640	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:23545640G>A	ENST00000376979.3	-	3	687	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	130						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGTCATCCAGGGCCTGGTGCT	0.552000													94	134					0	0	0.014410	0	0
XPC	7508	broad.mit.edu	37	3	14220061	14220061	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:14220061C>G	ENST00000285021.7	-	1	222	c.8G>C	c.(7-9)cGg>cCg	p.R3P	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Missense_Mutation_p.R3P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	3					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGCGCGTTTCCGAGCCATGTT	0.701000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	23					0	0	0.010729	0	0
GRM6	2916	broad.mit.edu	37	5	178410177	178410177	+	Missense_Mutation	SNP	C	C	T	rs151103990	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr5:178410177C>T	ENST00000231188.5	-	9	2348	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.V724M	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	724					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGTCAATCACGCTGTGTGGG	0.607000													39	60					0	0	0.013114	0	0
ABCC11	85320	broad.mit.edu	37	16	48218462	48218462	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:48218462C>A	ENST00000394747.1	-	22	3496	c.3147G>T	c.(3145-3147)agG>agT	p.R1049S	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1049S|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1049S|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1049S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1049	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGATCTCCAGCCTCAATGCCA	0.483000													56	132					2.69953e-25	3.88469e-25	0.014410	1	0
ZNF79	7633	broad.mit.edu	37	9	130207131	130207131	+	Silent	SNP	T	T	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:130207131T>C	ENST00000342483.5	+	5	1558	c.1152T>C	c.(1150-1152)acT>acC	p.T384T	ZNF79_ENST00000543471.1_Silent_p.T360T	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GGACTCACACTGGGGAGAAAC	0.547000													7	134					0	0	0.004482	0	0
PRKACB	5567	broad.mit.edu	37	1	84700917	84700917	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:84700917G>C	ENST00000370689.2	+	10	1249	c.985G>C	c.(985-987)Gat>Cat	p.D329H	PRKACB_ENST00000394839.2_Missense_Mutation_p.D299H|PRKACB_ENST00000370685.3_Missense_Mutation_p.D376H|PRKACB_ENST00000370682.3_Missense_Mutation_p.D333H|PRKACB_ENST00000394838.2_Missense_Mutation_p.D336H	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	329	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CAGCAACTTTGATGACTATGA	0.343000													5	103					0	0	0.021553	0	0
HERC2	8924	broad.mit.edu	37	15	28491151	28491151	+	Silent	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:28491151G>A	ENST00000261609.7	-	23	3561	c.3453C>T	c.(3451-3453)ctC>ctT	p.L1151L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1151					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTCTTGCATGAGACCAGCAT	0.423000													61	62					0	0	0.014410	0	0
KIF5A	3798	broad.mit.edu	37	12	57972099	57972099	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:57972099G>A	ENST00000455537.2	+	23	2786	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E749K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	838					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAACAACCTGGAACAGCTTAC	0.473000													86	111					0	0	0.014410	0	0
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													8	425	---	---	---	---					
EIF4G3	8672	broad.mit.edu	37	1	21306904	21306905	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:21306904_21306905insG	ENST00000602326.1	-	8	851_852	c.268_269insC	c.(268-270)acafs	p.T90fs	EIF4G3_ENST00000400422.1_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000374927.4_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000356916.3_Frame_Shift_Ins_p.T94fs|EIF4G3_ENST00000374935.3_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000374937.3_Frame_Shift_Ins_p.T90fs|EIF4G3_ENST00000264211.8_Frame_Shift_Ins_p.T83fs	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	83					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGATATTGTTGGGGGGGCCCA	0.441													7	28	---	---	---	---					
UBXN11	91544	broad.mit.edu	37	1	26608843	26608844	+	In_Frame_Ins	INS	-	-	GGGACA	rs6667693	by1000genomes	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:26608843_26608844insGGGACA	ENST00000314675.7	-	11	1228_1229	c.1149_1150insTGTCCC	c.(1147-1152)ccgtcc>ccTGTCCCgtcc	p.382_383insPV	UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374222.1_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPV|UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPV	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	502						cytoplasm|cytoskeleton		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactggggc	0.733													10	9	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													7	121	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													12	417	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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								7	183	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													28	324	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													29	336	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112269924	112269925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:112269924_112269925insC	ENST00000357260.5	-	2	740_741	c.559_560insG	c.(559-561)acgfs	p.T187fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T172fs	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	187										cervix(1)|endometrium(1)	2						GGGTTCACGTGCCCCCCCAGTC	0.579													12	186	---	---	---	---					
SLC39A1	27173	broad.mit.edu	37	1	153934780	153934781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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_ENST00000310483.6_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000537590.1_Intron			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	106	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)cccfs	p.P282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282					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)					TACTGTAGTGACCCCCCTCCTT	0.460													9	893	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													7	544	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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	246	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR	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													9	392	---	---	---	---					
EPHX1	2052	broad.mit.edu	37	1	226026383	226026384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr1:226026383_226026384insC	ENST00000366837.4	+	4	589_590	c.393_394insC	c.(391-396)aaccccfs	p.NP131fs	EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.NP131fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	131					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGCT	0.624													11	194	---	---	---	---					
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)ccgcaafs	p.Q919fs	DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559													9	474	---	---	---	---					
PCGF1	84759	broad.mit.edu	37	2	74732899	74732900	+	Splice_Site	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:74732899_74732900insG	ENST00000233630.6	-	6	1442		c.e6-2		PCGF1_ENST00000480844.2_Splice_Site	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAATA	0.530													7	394	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89082293	89082294	+	RNA	INS	-	-	ATTT			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:89082293_89082294insATTT	ENST00000393525.3	+	0	503																											ATTAAAGTCTCATATGTTGAAC	0.332													8	51	---	---	---	---					
WDR33	55339	broad.mit.edu	37	2	128467384	128467385	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:128467384_128467385insG	ENST00000322313.4	-	19	3512_3513	c.3354_3355insC	c.(3352-3357)ccgaggfs	p.R1119fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1119					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCCTTCCTCTGGGGGGAGCAC	0.545													7	408	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|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													11	324	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													10	186	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													7	344	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs			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													11	263	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													7	218	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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								18	269	---	---	---	---					
SETD5	55209	broad.mit.edu	37	3	9517294	9517295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:9517294_9517295insC	ENST00000402466.1	+	24	4322_4323	c.3554_3555insC	c.(3553-3555)accfs	p.T1185fs	SETD5_ENST00000406341.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.T1185fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.T1302fs			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1283	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTGGAAACCCCCCCTCTC	0.550													9	279	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	107	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs	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				13	827	---	---	---	---					
XIRP1	165904	broad.mit.edu	37	3	39229648	39229649	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:39229648_39229649insG	ENST00000340369.3	-	2	1516_1517	c.1288_1289insC	c.(1288-1290)gagfs	p.E430fs	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Frame_Shift_Ins_p.E430fs	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	430							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTCATCCCTCTGGGGGGCACTC	0.564													8	723	---	---	---	---					
NCKIPSD	51517	broad.mit.edu	37	3	48716892	48716893	+	Splice_Site	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:48716892_48716893insG	ENST00000294129.2	-	9	1609		c.e9-2		NCKIPSD_ENST00000416649.2_Splice_Site|NCKIPSD_ENST00000341520.4_Splice_Site	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain						cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTGGTGGTCTGGGGGGGACAA	0.569													7	167	---	---	---	---					
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)gggfs	p.G96fs	RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495													13	292	---	---	---	---					
ARHGEF3	50650	broad.mit.edu	37	3	56789130	56789131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:56789130_56789131insG	ENST00000413728.2	-	3	814_815	c.271_272insC	c.(271-273)accfs	p.T91fs	ARHGEF3_ENST00000296315.3_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.T117fs|ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.T56fs|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.T91fs	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	85					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGACCAGGGTCGGGGGGCGAGG	0.579													7	382	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|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													9	471	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggtfs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579													9	473	---	---	---	---					
MORC1	27136	broad.mit.edu	37	3	108822739	108822740	+	Frame_Shift_Ins	INS	-	-	C	rs142771630		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:108822739_108822740insC	ENST00000232603.5	-	4	261_262	c.179_180insG	c.(178-180)gttfs	p.V60fs	MORC1_ENST00000483760.1_Frame_Shift_Ins_p.V60fs|MORC1-AS1_ENST00000480826.1_RNA	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	60					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAACATGAATCCCCCCTGCAG	0.376													9	796	---	---	---	---					
SLC9C1	285335	broad.mit.edu	37	3	111936361	111936362	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:111936361_111936362insT	ENST00000305815.5	-	15	1969_1970	c.1717_1718insA	c.(1717-1719)agtfs	p.S573fs	SLC9C1_ENST00000487372.1_Frame_Shift_Ins_p.S525fs	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	573					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AAAGGTAACTGTTTTTTGGCTT	0.297													7	149	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113375177	113375178	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:113375177_113375178insG	ENST00000316407.4	-	7	5761_5762	c.5351_5352insC	c.(5350-5352)cccfs	p.P1784fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.P1784fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1784					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.P1784Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTCAATTGGTGGGGGGCCAGT	0.426													7	590	---	---	---	---					
ZBTB20	26137	broad.mit.edu	37	3	114058002	114058003	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:114058002_114058003insG	ENST00000462705.1	-	12	2677_2678	c.1856_1857insC	c.(1855-1857)cgcfs	p.R619fs	ZBTB20_ENST00000481632.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Ins_p.R692fs|ZBTB20_ENST00000471418.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Ins_p.R619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCCC	0.634													8	111	---	---	---	---					
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)cccfs	p.P384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2.|Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604													13	435	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cctaatfs	p.N88fs		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	88	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441													8	1286	---	---	---	---					
ANAPC13	25847	broad.mit.edu	37	3	134197443	134197444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:134197443_134197444insG	ENST00000510994.1	-	3	943_944	c.213_214insC	c.(211-216)ccttggfs	p.W72fs	ANAPC13_ENST00000511751.1_Frame_Shift_Ins_p.W72fs|ANAPC13_ENST00000514612.1_Frame_Shift_Ins_p.W72fs|ANAPC13_ENST00000354910.5_Frame_Shift_Ins_p.W72fs	NM_001242374.1	NP_001229303.1	Q9BS18	APC13_HUMAN	anaphase promoting complex subunit 13	72					cell division|mitosis|protein K11-linked ubiquitination	anaphase-promoting complex				lung(1)|skin(1)	2						CAGTTTCCAATGGGGGGAACAT	0.421													7	495	---	---	---	---					
EPHB1	2047	broad.mit.edu	37	3	134851847	134851848	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:134851847_134851848insC	ENST00000398015.3	+	5	1623_1624	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	418	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGAGTCCCTTCCCCCCACAGC	0.579													8	270	---	---	---	---					
PIK3CB	5291	broad.mit.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)ggafs	p.G604fs	PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs|PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGGGCCTCCCGGGGGGGCAGT	0.465													14	187	---	---	---	---					
MME	4311	broad.mit.edu	37	3	154884713	154884714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:154884713_154884714insC	ENST00000460393.1	+	18	1803_1804	c.1683_1684insC	c.(1681-1686)caccccfs	p.HP561fs	MME_ENST00000360490.2_Frame_Shift_Ins_p.HP561fs|MME_ENST00000492661.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000493237.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000462745.1_Frame_Shift_Ins_p.HP561fs|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	561					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q561H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GCATTCTGCAGCCCCCCTTCTT	0.446													9	420	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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	622	---	---	---	---					
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)cccfs	p.P305fs	HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	305						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CACCAGTGGCACCCCCCTCATC	0.540													8	584	---	---	---	---					
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccagafs	p.R145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604													8	120	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													10	638	---	---	---	---					
STIM2	57620	broad.mit.edu	37	4	27019446	27019447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:27019446_27019447insC	ENST00000382009.3	+	12	2155_2156	c.1888_1889insC	c.(1888-1890)cccfs	p.P630fs	STIM2_ENST00000467011.1_Frame_Shift_Ins_p.P535fs|STIM2_ENST00000467087.1_Frame_Shift_Ins_p.P535fs|STIM2_ENST00000465503.1_Frame_Shift_Ins_p.P543fs|STIM2_ENST00000237364.5_Frame_Shift_Ins_p.P622fs|STIM2_ENST00000412829.2_Frame_Shift_Ins_p.P622fs	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	535					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGCTCCACACGCCCCCCACCCG	0.619													7	478	---	---	---	---					
ATP10D	57205	broad.mit.edu	37	4	47559697	47559698	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:47559697_47559698insG	ENST00000273859.3	+	12	2110_2111	c.1841_1842insG	c.(1840-1842)cggfs	p.R614fs	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	614					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACCCTTCACTGGGGGGGTTGC	0.401													8	169	---	---	---	---					
IGFBP7	3490	broad.mit.edu	37	4	57907076	57907077	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:57907076_57907077insG	ENST00000295666.4	-	2	531_532	c.498_499insC	c.(496-501)ccaggafs	p.G167fs	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Frame_Shift_Ins_p.G167fs	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	167	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGATGTCCTTGGGGGGCGTCA	0.505													7	202	---	---	---	---					
CXCL9	4283	broad.mit.edu	37	4	76924806	76924806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:76924806delT	ENST00000264888.5	-	4	361	c.323delA	c.(322-324)agfs	p.K109fs	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	109					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAGAACTTTCTTTTTTTGATG	0.333													8	715	---	---	---	---					
SMARCAD1	56916	broad.mit.edu	37	4	95199781	95199782	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:95199781_95199782insC	ENST00000354268.4	+	18	2266_2267	c.2193_2194insC	c.(2191-2196)ttccccfs	p.FP731fs	SMARCAD1_ENST00000457823.2_Frame_Shift_Ins_p.FP731fs|SMARCAD1_ENST00000509418.1_Frame_Shift_Ins_p.FP301fs			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	731					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCAAGCAGTTACCCCCCAAGAA	0.322													7	434	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													9	1050	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													9	580	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													12	737	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)gggfs	p.G3454fs	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCACG	0.455													16	237	---	---	---	---					
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)ggaatcfs	p.I1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391													8	1048	---	---	---	---					
SH3D19	152503	broad.mit.edu	37	4	152095943	152095944	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:152095943_152095944insG	ENST00000409598.4	-	7	1739_1740	c.572_573insC	c.(571-573)cgtfs	p.R191fs	SH3D19_ENST00000427414.2_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000514152.1_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000424281.1_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000455740.1_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000304527.4_Frame_Shift_Ins_p.R191fs|SH3D19_ENST00000409252.2_Frame_Shift_Ins_p.R191fs			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	191	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GAACTGGAACTGGGGGGTTGGC	0.559													10	1054	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs|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													12	753	---	---	---	---					
RAPGEF2	9693	broad.mit.edu	37	4	160253650	160253651	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:160253650_160253651insC	ENST00000264431.4	+	11	1872_1873	c.1453_1454insC	c.(1453-1455)cccfs	p.P485fs		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	485					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAGAAATGGTGCCCCCCACCTT	0.366													7	265	---	---	---	---					
GPM6A	2823	broad.mit.edu	37	4	176622884	176622885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:176622884_176622885insC	ENST00000280187.7	-	3	116_117	c.71_72insG	c.(70-72)gatfs	p.D24fs	GPM6A_ENST00000515090.1_Frame_Shift_Ins_p.D17fs|GPM6A_ENST00000506894.1_Frame_Shift_Ins_p.D13fs|GPM6A_ENST00000393658.2_Frame_Shift_Ins_p.D24fs	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	24						cell surface|integral to membrane				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)		CATAGGGAATGCCCCCCAGGCA	0.431													8	489	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:186515043_186515044insC	ENST00000431808.1	-	20	3693_3694	c.3130_3131insG	c.(3130-3132)accfs	p.T1044fs	SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356													12	280	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													20	374	---	---	---	---					
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													10	697	---	---	---	---					
MTRR	4552	broad.mit.edu	37	5	7875405	7875406	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:7875405_7875406insG	ENST00000264668.2	+	4	429_430	c.399_400insG	c.(397-402)aaggggfs	p.KG133fs	MTRR_ENST00000440940.2_Frame_Shift_Ins_p.KG106fs|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000341013.6_Frame_Shift_Ins_p.R55fs	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	133	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ACTTTTGCAATGGGGGGAAGAT	0.406													8	532	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													7	248	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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	865	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	36986119	36986120	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:36986119_36986120insG	ENST00000282516.8	+	10	3336_3337	c.2837_2838insG	c.(2836-2838)tggfs	p.W946fs	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.W946fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	946					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGTTATTTGTTGGGGGGCAGGT	0.391													12	404	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)ggcatgfs	p.M325fs	FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.540													8	325	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													13	428	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													17	336	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71491428	71491429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													8	808	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													22	592	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													34	301	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	123984683	123984684	+	Frame_Shift_Ins	INS	-	-	C	rs151227213		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:123984683_123984684insC	ENST00000306315.5	-	4	1828_1829	c.1393_1394insG	c.(1393-1395)caafs	p.Q465fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.Q38fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	465						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCTG	0.629													9	291	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127599161	127599162	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:127599161_127599162insC	ENST00000508053.1	-	69	9121_9122	c.8147_8148insG	c.(8146-8148)gtafs	p.V2716fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.V2716fs			P35556	FBN2_HUMAN	fibrillin 2	2716	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGAGGTAGCCCCCCTCCGT	0.574													9	314	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													11	343	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													14	1219	---	---	---	---					
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:139193287_139193288insG	ENST00000274710.3	+	3	970_971	c.765_766insG	c.(763-768)ccggggfs	p.PG255fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	255					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGGCCCAGGGGGGGATGA	0.614													7	213	---	---	---	---					
PCDHB12	56124	broad.mit.edu	37	5	140588663	140588664	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:140588663_140588664insG	ENST00000239450.2	+	1	373_374	c.184_185insG	c.(184-186)gggfs	p.G62fs	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTTCGCGGGGGGCTCGG	0.510													8	245	---	---	---	---					
PCDHGC3	5098	broad.mit.edu	37	5	140857727	140857728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:140857727_140857728insC	ENST00000308177.3	+	1	2148_2149	c.2044_2045insC	c.(2044-2046)cccfs	p.P682fs	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_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	306	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													16	872	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)cccfs	p.P743fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					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						GGTCAGTGGGTGGGGGGCTCAC	0.564													9	996	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													27	516	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)gaafs	p.E397fs	PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.500													11	882	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:149755744_149755745insC	ENST00000451292.1	+	13	2101_2102	c.1993_1994insC	c.(1993-1995)cccfs	p.P665fs	TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240).		skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584													9	454	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:156915296_156915297insG	ENST00000257527.4	-	21	2604_2605	c.2526_2527insC	c.(2524-2529)cccaccfs	p.T843fs	ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs|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	576	---	---	---	---					
GABRA6	2559	broad.mit.edu	37	5	161116011	161116012	+	Frame_Shift_Ins	INS	-	-	G	rs143274925		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:161116011_161116012insG	ENST00000523217.1	+	4	494_495	c.252_253insG	c.(250-255)ttggggfs	p.LG84fs	GABRA6_ENST00000274545.5_Frame_Shift_Ins_p.LG94fs|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	94					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTGAAGTTTGGGGGGCCAAC	0.406										TCGA Ovarian(5;0.080)			11	556	---	---	---	---					
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)ccagatfs	p.D274fs	KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	274							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579													12	482	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													13	327	---	---	---	---					
HIVEP1	3096	broad.mit.edu	37	6	12121132	12121133	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:12121132_12121133insC	ENST00000379388.2	+	4	1436_1437	c.1104_1105insC	c.(1102-1107)tcccccfs	p.SP368fs		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	368					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTACACAGTCGCCCCCCATGCC	0.421													7	483	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													7	164	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													19	1153	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000483013.1_Intron|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													7	256	---	---	---	---					
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	Frame_Shift_Ins	INS	-	-	G	rs146246499	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:30867830_30867831insG	ENST00000361741.4	+	12	1492_1493	c.1297_1298insG	c.(1297-1299)gggfs	p.G433fs	DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000452441.1_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													8	451	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													9	319	---	---	---	---					
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:33178989_33178990insG	ENST00000374656.4	+	5	718_719	c.510_511insG	c.(508-513)agggggfs	p.RG170fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAGG	0.619													12	329	---	---	---	---					
SYNGAP1	8831	broad.mit.edu	37	6	33405504	33405505	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													11	264	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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	124	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:87725846_87725847insC	ENST00000305344.4	+	2	1497_1498	c.794_795insC	c.(793-795)accfs	p.T265fs	HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510													14	550	---	---	---	---					
ROS1	6098	broad.mit.edu	37	6	117714408	117714409	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:117714408_117714409insT	ENST00000368508.3	-	11	1438_1439	c.1240_1241insA	c.(1240-1242)tgtfs	p.C414fs	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Ins_p.C423fs	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	414					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCAGCCACAATTTTTTGAGGT	0.347			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								7	885	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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	352	---	---	---	---					
ENPP3	5169	broad.mit.edu	37	6	132006590	132006591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr6:132006590_132006591insC	ENST00000414305.1	+	14	1535_1536	c.1207_1208insC	c.(1207-1209)cccfs	p.P403fs	ENPP3_ENST00000358229.5_Frame_Shift_Ins_p.P403fs|ENPP3_ENST00000357639.3_Frame_Shift_Ins_p.P403fs			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	403	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGAAGGGCCTGCCCCCCGCATC	0.361													10	268	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													8	228	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6759412	6759413	+	RNA	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:6759412_6759413insG	ENST00000486256.1	+	0	346					NR_002217.1																						GTGTGCCTCCCGGGGGGGAGGT	0.569													11	147	---	---	---	---					
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:13975472_13975473insG	ENST00000343495.5	-	7	1098_1099	c.360_361insC	c.(358-363)cccaccfs	p.T121fs	ETV1_ENST00000399357.3_Intron|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs			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"""								8	232	---	---	---	---					
DFNA5	1687	broad.mit.edu	37	7	24784270	24784271	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:24784270_24784271insC	ENST00000342947.3	-	3	739_740	c.314_315insG	c.(313-315)gagfs	p.E105fs	DFNA5_ENST00000409775.3_Frame_Shift_Ins_p.E105fs|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	105					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CGCGGCTGCTGCCCCCCAGGTT	0.559													8	276	---	---	---	---					
OSBPL3	26031	broad.mit.edu	37	7	24870394	24870395	+	Frame_Shift_Ins	INS	-	-	A	rs35793413		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:24870394_24870395insA	ENST00000313367.2	-	16	2327_2328	c.1876_1877insT	c.(1876-1878)agafs	p.R626fs	OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.R559fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.R559fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.R590fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	626					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						TACCTGTTCTGAAAAAAACTGG	0.421													12	1015	---	---	---	---					
EPDR1	54749	broad.mit.edu	37	7	37988587	37988588	+	Frame_Shift_Ins	INS	-	-	T	rs145911941	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:37988587_37988588insT	ENST00000199448.4	+	2	794_795	c.415_416insT	c.(415-417)cggfs	p.R139fs	EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.R37fs|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.R78fs|EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.R259fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	139					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCAGTACTCCATCGGGGGGCCT	0.510													8	589	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								25	350	---	---	---	---					
HEPACAM2	253012	broad.mit.edu	37	7	92838073	92838074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:92838073_92838074insG	ENST00000394468.2	-	4	908_909	c.831_832insC	c.(829-834)ccacacfs	p.H278fs	HEPACAM2_ENST00000341723.4_Frame_Shift_Ins_p.H266fs|HEPACAM2_ENST00000453812.2_Frame_Shift_Ins_p.H301fs|HEPACAM2_ENST00000440868.1_Frame_Shift_Ins_p.H266fs	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	278	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GAGTAGGTGTTGGGGGGATGAG	0.431													8	456	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													17	932	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100479331	100479332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:100479331_100479332insG	ENST00000388793.4	+	4	523_524	c.303_304insG	c.(301-306)gcggggfs	p.AG101fs	SRRT_ENST00000457580.2_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000347433.4_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.AG101fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	101					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609													18	194	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													12	178	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3379-3384)aaccccfs	p.NP1127fs	CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.520													8	1554	---	---	---	---					
PLXNA4	91584	broad.mit.edu	37	7	131831324	131831325	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:131831324_131831325insC	ENST00000359827.3	-	28	5961_5962	c.4999_5000insG	c.(4999-5001)ccgfs	p.P1667fs	PLXNA4_ENST00000321063.4_Frame_Shift_Ins_p.P1667fs			Q9HCM2	PLXA4_HUMAN	plexin A4	1667						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCCCCCGGTCCCCCTCCTTC	0.574													7	1845	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													7	536	---	---	---	---					
TRBV7-8	28590	broad.mit.edu	37	7	142099644	142099645	+	RNA	INS	-	-	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142099644_142099645insA	ENST00000390359.3	-	0	195_196																											CTGTTGGTACCAAAAAAGGGAT	0.515													7	306	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													7	612	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													7	173	---	---	---	---					
ASAP1	50807	broad.mit.edu	37	8	131124498	131124499	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr8:131124498_131124499insG	ENST00000357668.1	-	23	2269_2270	c.2242_2243insC	c.(2242-2244)ggafs	p.G748fs	ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.G748fs			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	748					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGCTTGTCCTGGGGGGAGATG	0.535													7	124	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:18829842_18829843insC	ENST00000380548.4	+	23	4455_4456	c.4114_splice	c.e23-1	p.DP1372_splice	ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1372						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAGT	0.564													10	188	---	---	---	---					
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2224-2229)ggggggfs	p.GG742fs	TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs|TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	742					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CGGACCTCGGAGGGGGGAAGAT	0.510													16	511	---	---	---	---					
UBAP2	55833	broad.mit.edu	37	9	33923478	33923479	+	Splice_Site	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:33923478_33923479insG	ENST00000379238.1	-	25	2914		c.e25-2		UBAP2_ENST00000360802.1_Splice_Site|UBAP2_ENST00000379239.4_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000379235.1_Splice_Site|UBAP2_ENST00000449054.1_Splice_Site			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGGAGGGACCTGGGGGGGCAAG	0.594													22	477	---	---	---	---					
C9orf131	138724	broad.mit.edu	37	9	35043649	35043650	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:35043649_35043650insC	ENST00000312292.5	+	2	1070_1071	c.1023_1024insC	c.(1021-1026)ccccccfs	p.PP341fs	C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.PP293fs|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.PP268fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	341										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCCA	0.530													8	1491	---	---	---	---					
TESK1	7016	broad.mit.edu	37	9	35608959	35608960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:35608959_35608960insC	ENST00000336395.5	+	10	1351_1352	c.1101_1102insC	c.(1099-1104)tcccccfs	p.SP367fs	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	367					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCAGAATCACCCCCCAACTG	0.609													8	396	---	---	---	---					
RNF38	152006	broad.mit.edu	37	9	36353239	36353240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:36353239_36353240insG	ENST00000357058.3	-	7	1355_1356	c.749_750insC	c.(748-750)cacfs	p.H250fs	RNF38_ENST00000353739.4_Frame_Shift_Ins_p.H283fs|RNF38_ENST00000377885.2_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000350199.4_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000259605.6_Frame_Shift_Ins_p.H333fs|RNF38_ENST00000377877.4_Frame_Shift_Ins_p.H257fs	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	333	Pro-rich.						zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGGTAATGTTGGGGGGTGGGC	0.460													8	353	---	---	---	---					
ECM2	1842	broad.mit.edu	37	9	95277236	95277237	+	Frame_Shift_Ins	INS	-	-	C	rs13297924		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:95277236_95277237insC	ENST00000344604.5	-	4	879_880	c.730_731insG	c.(730-732)cagfs	p.Q244fs	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Frame_Shift_Ins_p.Q222fs	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	244					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCCTCTGCTGTCCCCCTCACTG	0.525													8	1159	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													7	475	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													17	352	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.550													7	437	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)ggcfs	p.G1911fs	TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs	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													19	662	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													7	483	---	---	---	---					
ZNF79	7633	broad.mit.edu	37	9	130206998	130207012	+	In_Frame_Del	DEL	AGGCCTTCAGTTACT	AGGCCTTCAGTTACT	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130206998_130207012delAGGCCTTCAGTTACT	ENST00000342483.5	+	5	1425_1439	c.1019_1033delAGGCCTTCAGTTACT	c.(1018-1035)agc>a	p.KAFSYC340del	ZNF79_ENST00000543471.1_In_Frame_Del_p.KAFSYC316del	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGTGTGGGAAGGCCTTCAGTTACTGCGCAGCGTT	0.577													96	280	---	---	---	---					
TSC1	7248	broad.mit.edu	37	9	135785963	135785964	+	Frame_Shift_Ins	INS	-	-	G	rs118203506		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:135785963_135785964insG	ENST00000298552.3	-	12	1478_1479	c.1257_1258insC	c.(1255-1260)ccggaafs	p.E420fs	TSC1_ENST00000545250.1_Frame_Shift_Ins_p.E369fs|TSC1_ENST00000440111.2_Frame_Shift_Ins_p.E420fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	420					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CGCACCTTCCTGGGGGGTGTGA	0.559			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				8	247	---	---	---	---					
FAM21B	55747	broad.mit.edu	37	10	47909192	47909193	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr10:47909192_47909193insC	ENST00000358474.5	+	10	762_763	c.762_763insC	c.(760-765)acccccfs	p.TP254fs		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	254					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ACTTATTCACACCCCCCAAGCT	0.515													11	522	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													16	506	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													7	672	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													11	250	---	---	---	---					
OR51E1	143503	broad.mit.edu	37	11	4674216	4674217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:4674216_4674217insG	ENST00000396952.5	+	2	1110_1111	c.460_461insG	c.(460-462)gggfs	p.G154fs	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A155fs*3(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGCA	0.559													14	821	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													14	1123	---	---	---	---					
OR56B1	387748	broad.mit.edu	37	11	5758618	5758619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:5758618_5758619insC	ENST00000317121.3	+	1	938_939	c.872_873insC	c.(871-873)accfs	p.T291fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CACAACATCATCCCCCCTTCCC	0.406													8	1452	---	---	---	---					
APBB1	322	broad.mit.edu	37	11	6423807	6423808	+	Splice_Site	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:6423807_6423808insC	ENST00000389906.2	-	7	1351_1352	c.1254_splice	c.e7+1	p.R418_splice	APBB1_ENST00000299402.6_Splice_Site_p.R418_splice|APBB1_ENST00000530885.1_Splice_Site_p.R198_splice|APBB1_ENST00000311051.3_Splice_Site_p.R418_splice|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000533407.1_Splice_Site_p.R159_splice	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	418	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGTCCTTACTTCCCCCCAGCCC	0.584													11	409	---	---	---	---					
ILK	3611	broad.mit.edu	37	11	6629352	6629353	+	Frame_Shift_Ins	INS	-	-	G	rs141701406		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:6629352_6629353insG	ENST00000396751.2	+	2	622_623	c.166_167insG	c.(166-168)gggfs	p.G56fs	ILK_ENST00000537806.1_Intron|ILK_ENST00000420936.2_Frame_Shift_Ins_p.G56fs|ILK_ENST00000299421.4_Frame_Shift_Ins_p.G56fs|ILK_ENST00000528995.1_Frame_Shift_Ins_p.G56fs	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	56	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GTTGATCATGCGGGGGGCACGG	0.564													7	187	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)cctfs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604													7	656	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs143767864	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													27	243	---	---	---	---					
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)ccgcgafs	p.R788fs	EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|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													11	226	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													54	1259	---	---	---	---					
PHF21A	51317	broad.mit.edu	37	11	45967494	45967495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:45967494_45967495insG	ENST00000257821.4	-	14	1971_1972	c.1348_1349insC	c.(1348-1350)atcfs	p.I450fs	PHF21A_ENST00000323180.6_Intron|PHF21A_ENST00000527753.1_Intron|PHF21A_ENST00000418153.2_Frame_Shift_Ins_p.I449fs	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	449					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						ATGACTGGATTGGGGGGATGTT	0.525													7	329	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)gctfs	p.A1835fs	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564													9	160	---	---	---	---					
C11orf49	79096	broad.mit.edu	37	11	47074000	47074001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:47074000_47074001insC	ENST00000395460.2	+	3	249_250	c.211_212insC	c.(211-213)cccfs	p.P71fs	C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	71										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAAT	0.441													7	654	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													7	875	---	---	---	---					
OR8I2	120586	broad.mit.edu	37	11	55861307	55861308	+	Frame_Shift_Ins	INS	-	-	T	rs112181516		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:55861307_55861308insT	ENST00000302124.2	+	1	555_556	c.524_525insT	c.(523-525)cttfs	p.L175fs	OR8I2_ENST00000560768.1_Frame_Shift_Ins_p.L175fs			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H175fs*10(1)|p.C178fs*2(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGCATCAATCATTTTTTTTGTG	0.441													7	424	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													11	619	---	---	---	---					
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													8	262	---	---	---	---					
TMEM132A	54972	broad.mit.edu	37	11	60699533	60699534	+	Frame_Shift_Ins	INS	-	-	G	rs61745629	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:60699533_60699534insG	ENST00000005286.4	+	7	1446_1447	c.1293_1294insG	c.(1291-1296)ggggggfs	p.GG431fs	TMEM132A_ENST00000453848.2_Frame_Shift_Ins_p.GG430fs	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	430						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGTGGACGGCGGGGGGGCCTT	0.644													7	99	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						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						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)					15	386	---	---	---	---					
RASGRP2	10235	broad.mit.edu	37	11	64507637	64507638	+	Splice_Site	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:64507637_64507638insG	ENST00000377494.1	-	5	1294		c.e5-2		RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGGTAGGGCTGGGGGGGCAGG	0.569													7	127	---	---	---	---					
RELA	5970	broad.mit.edu	37	11	65422045	65422046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:65422045_65422046insG	ENST00000406246.3	-	11	1720_1721	c.1459_1460insC	c.(1459-1461)cacfs	p.H487fs	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	487					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTCAGTTGTGTGGGGGGCCACA	0.624													7	223	---	---	---	---					
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs142447712		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:66272154_66272155insC	ENST00000532677.1	+	17	2408_2409	c.2007_2008insC	c.(2005-2010)gcccccfs	p.AP669fs	DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	650					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579													8	233	---	---	---	---					
CTD-3074O7.11	0	broad.mit.edu	37	11	66299155	66299156	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:66299155_66299156insC	ENST00000419755.3	+	16	1826_1827	c.1748_1749insC	c.(1747-1749)tccfs	p.S583fs	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Frame_Shift_Ins_p.S417fs|BBS1_ENST00000318312.7_Frame_Shift_Ins_p.S546fs|BBS1_ENST00000455748.2_Frame_Shift_Ins_p.S449fs																							GGGCTCAACTACCCCCTGGAGA	0.540													8	1010	---	---	---	---					
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-279)cggfs	p.R93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644													11	105	---	---	---	---					
PC	5091	broad.mit.edu	37	11	66639561	66639562	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:66639561_66639562insG	ENST00000393960.1	-	4	350_351	c.69_70insC	c.(67-72)ccctgcfs	p.C24fs	PC_ENST00000393955.2_Frame_Shift_Ins_p.C24fs|PC_ENST00000355677.3_Frame_Shift_Ins_p.C24fs|PC_ENST00000393958.2_Frame_Shift_Ins_p.C24fs|PC_ENST00000524491.1_5'UTR	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	24					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGGAGGCAGCGGGGGCGGTGG	0.619													2	4	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL								9	432	---	---	---	---					
RSF1	51773	broad.mit.edu	37	11	77412023	77412024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													8	677	---	---	---	---					
DLG2	1740	broad.mit.edu	37	11	84027990	84027991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:84027990_84027991insC	ENST00000280241.8	-	1	197_198	c.198_199insG	c.(196-201)ggccagfs	p.Q67fs	DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000398301.2_Frame_Shift_Ins_p.Q67fs	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTGAAGCTGGACCCCCCGGTCC	0.609													11	445	---	---	---	---					
FAT3	120114	broad.mit.edu	37	11	92088048	92088049	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:92088048_92088049insT	ENST00000298047.6	+	1	2787_2788	c.2770_2771insT	c.(2770-2772)tttfs	p.F924fs	FAT3_ENST00000541502.1_Frame_Shift_Ins_p.F924fs|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.F924fs|FAT3_ENST00000525166.1_Frame_Shift_Ins_p.F774fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	924	Cadherin 8.				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)				CACTCTTAAAGTTTTTTTAGAT	0.446										TCGA Ovarian(4;0.039)			7	500	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	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													22	1144	---	---	---	---					
HTR3A	3359	broad.mit.edu	37	11	113857332	113857333	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:113857332_113857333insC	ENST00000504030.2	+	7	1243_1244	c.798_799insC	c.(796-801)ctccccfs	p.LP266fs	HTR3A_ENST00000506841.2_Frame_Shift_Ins_p.LP266fs|HTR3A_ENST00000535865.1_Frame_Shift_Ins_p.LP10fs|HTR3A_ENST00000299961.5_Frame_Shift_Ins_p.LP251fs|HTR3A_ENST00000355556.2_Frame_Shift_Ins_p.LP272fs|HTR3A_ENST00000375498.2_Frame_Shift_Ins_p.LP272fs			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	266					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCTTCTACCTGCCCCCCAACAG	0.594													7	248	---	---	---	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:118629613_118629614insG	ENST00000264018.4	-	9	1170		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								28	306	---	---	---	---					
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													10	326	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													14	1608	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													10	258	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134062758	134062759	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:134062758_134062759insC	ENST00000534548.2	-	16	1934_1935	c.1870_1871insG	c.(1870-1872)ggtfs	p.G624fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	624					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CACCGGGACCACCCCCCGCAAC	0.540													10	242	---	---	---	---					
GLB1L3	112937	broad.mit.edu	37	11	134181004	134181005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr11:134181004_134181005insC	ENST00000431683.2	+	13	1227_1228	c.1227_1228insC	c.(1225-1230)taccccfs	p.YP409fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	409					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGGCTGTGTATCCCCCCGTGAG	0.604													8	567	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6128170	6128171	+	Frame_Shift_Ins	INS	-	-	G	rs61750092	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:6128170_6128171insG	ENST00000261405.5	-	28	4667_4668	c.4413_4414insC	c.(4411-4416)ccacatfs	p.H1472fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1472			D -> H (in dbSNP:rs1800383).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGTGCCATGTCGGGGGGCAGAG	0.614													14	175	---	---	---	---					
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)ccaagtfs	p.S42fs	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Intron	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.510													9	377	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6701714	6701715	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:6701714_6701715insA	ENST00000309577.6	-	19	2955_2956	c.2792_2793insT	c.(2791-2793)tgafs	p.*931fs	CHD4_ENST00000544484.1_Frame_Shift_Ins_p.*928fs|CHD4_ENST00000544040.1_Frame_Shift_Ins_p.*924fs|CHD4_ENST00000357008.2_Frame_Shift_Ins_p.*931fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	931					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CAAACTCCTCCAAAAAACCTTC	0.436													9	698	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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	576	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				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)	TTCTGCTCCTGCCCCCCGGAAT	0.455													16	533	---	---	---	---					
LRP6	4040	broad.mit.edu	37	12	12274317	12274318	+	Frame_Shift_Ins	INS	-	-	G	rs145639537	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:12274317_12274318insG	ENST00000261349.4	-	23	4660_4661	c.4584_4585insC	c.(4582-4587)ccccacfs	p.H1529fs	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.H1484fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1529					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAGGGTGTGGTGGGGGGTGCAA	0.465													9	545	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													18	1118	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													11	233	---	---	---	---					
RERG	85004	broad.mit.edu	37	12	15262411	15262412	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:15262411_15262412insC	ENST00000256953.2	-	5	568_569	c.232_233insG	c.(232-234)aggfs	p.R78fs	RERG_ENST00000536465.1_Frame_Shift_Ins_p.R78fs|RERG_ENST00000538313.1_Frame_Shift_Ins_p.R78fs|RERG_ENST00000546331.1_Frame_Shift_Ins_p.R59fs	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	78					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CACAAAGCCTTCCCCCCATCGC	0.460													8	1250	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													11	264	---	---	---	---					
ASIC1	41	broad.mit.edu	37	12	50471134	50471135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:50471134_50471135insG	ENST00000228468.4	+	4	1082_1083	c.697_698insG	c.(697-699)gggfs	p.G233fs	ASIC1_ENST00000447966.2_Frame_Shift_Ins_p.G233fs|ASIC1_ENST00000552438.1_Frame_Shift_Ins_p.G267fs	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	233					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCTGCCTGTGTGGGGGGAGACT	0.649													7	125	---	---	---	---					
GALNT6	11226	broad.mit.edu	37	12	51751177	51751178	+	Frame_Shift_Ins	INS	-	-	C	rs148799204		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:51751177_51751178insC	ENST00000543196.2	-	9	1762_1763	c.1557_1558insG	c.(1555-1560)ggagccfs	p.A520fs	GALNT6_ENST00000356317.3_Frame_Shift_Ins_p.A520fs			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	520	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATGAGGGGCTTCCCCCCGCGGT	0.599													8	201	---	---	---	---					
EIF4B	1975	broad.mit.edu	37	12	53427591	53427592	+	Splice_Site	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:53427591_53427592insC	ENST00000262056.9	+	9	1307_1308	c.979_splice	c.e9-1	p.GP327_splice	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Splice_Site_p.GP288_splice|EIF4B_ENST00000420463.3_Splice_Site_p.GP327_splice	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	327	Arg-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TTAACTTAGGTCCCCCCCAAAG	0.426													8	141	---	---	---	---					
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:53856277_53856278insC	ENST00000603815.1	+	8	867_868	c.517_518insC	c.(517-519)cccfs	p.P173fs	PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA	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													18	286	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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	2760	---	---	---	---					
DNAJC14	85406	broad.mit.edu	37	12	56222209	56222210	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:56222209_56222210insG	ENST00000357606.3	-	3	522_523	c.233_234insC	c.(232-234)cggfs	p.R78fs	DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.R78fs|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.R78fs			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	78					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTGGACCCCCTGGGGGGCCATG	0.559													7	512	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56558259	56558260	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:56558259_56558260insG	ENST00000550164.1	-	28	3502_3503	c.3488_3489insC	c.(3487-3489)cccfs	p.P1163fs	SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|SMARCC2_ENST00000347471.4_Intron			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1132	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCAGGTTAGGTGGGGGGAGAGT	0.614													7	427	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													12	320	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57115173	57115174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:57115173_57115174insG	ENST00000454682.1	-	3	421_422	c.140_141insC	c.(139-141)cccfs	p.P47fs	NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.P47fs	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGAGCAAGGAGGGGGGAGGGT	0.554			T	BCL6	NHL								8	216	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													46	850	---	---	---	---					
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)cgafs	p.R200fs	DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|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													12	231	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2458-2463)agggggfs	p.RG820fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	820					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505													7	1458	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs	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"""								10	585	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs	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													12	386	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_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)			7	355	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													19	469	---	---	---	---					
STAB2	55576	broad.mit.edu	37	12	104131518	104131519	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:104131518_104131519insG	ENST00000388887.2	+	53	5861_5862	c.5657_5658insG	c.(5656-5658)cggfs	p.R1886fs		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1886					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATCCCACCCTGGGGGGCCGCT	0.510													9	554	---	---	---	---					
BRAP	8315	broad.mit.edu	37	12	112082051	112082052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:112082051_112082052insC	ENST00000419234.4	-	12	1923_1924	c.1730_1731insG	c.(1729-1731)gagfs	p.E577fs	BRAP_ENST00000327551.6_Frame_Shift_Ins_p.E547fs|BRAP_ENST00000539060.1_Frame_Shift_Ins_p.E398fs	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	577					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTTCCCACTGCCCCCCGAAGA	0.604													8	104	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:112600859_112600860insG	ENST00000550722.1	-	75	13063_13064	c.12668_12669insC	c.(12667-12669)cgafs	p.R4223fs	HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGTGCCATCTGGGGGGGCGAT	0.629													22	243	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112601004	112601005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:112601004_112601005insC	ENST00000550722.1	-	75	12918_12919	c.12523_12524insG	c.(12523-12525)cctfs	p.P4175fs	HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.P3899fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4149fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CATCTCCAGGGCCCCCCAGAAG	0.614													8	135	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000553238.1_Intron			Q6J4K2	NCKX6_HUMAN							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						CGCCAGCGCCTGGGGGGAGGAG	0.644													8	865	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cctgttfs	p.V698fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	698					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)					11	258	---	---	---	---					
PXMP2	5827	broad.mit.edu	37	12	133277869	133277870	+	Frame_Shift_Ins	INS	-	-	G	rs141115887	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr12:133277869_133277870insG	ENST00000545677.1	+	3	250_251	c.47_48insG	c.(46-48)gggfs	p.G16fs	PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000543589.1_Intron			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	0						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCAAGATGAGGGGGGGCTTC	0.614													12	236	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													12	168	---	---	---	---					
OR4N2	390429	broad.mit.edu	37	14	20295776	20295777	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:20295776_20295777insC	ENST00000568211.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs	OR4N2_ENST00000315947.1_Frame_Shift_Ins_p.P57fs			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGCTCACAGCCCCCCTCTAT	0.475													10	1502	---	---	---	---					
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.460													15	1842	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													11	774	---	---	---	---					
CDH24	64403	broad.mit.edu	37	14	23523784	23523785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:23523784_23523785insC	ENST00000397359.3	-	5	973_974	c.714_715insG	c.(712-717)ggtgtcfs	p.V239fs	CDH24_ENST00000267383.5_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000554034.1_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000487137.2_Frame_Shift_Ins_p.V239fs	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	239	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTGCCTGACAGCCCCCCCATGT	0.609											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	81	---	---	---	---					
LRRC16B	90668	broad.mit.edu	37	14	24532702	24532703	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:24532702_24532703insC	ENST00000342740.5	+	31	3093_3094	c.2939_2940insC	c.(2938-2940)cccfs	p.P980fs	LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.P76fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	980										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGGAGGCCCCGCCCCCCCAGGA	0.594													9	105	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505													8	431	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													15	473	---	---	---	---					
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													10	261	---	---	---	---					
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cgafs	p.R239fs	MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000440435.2_3'UTR	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.450													14	1291	---	---	---	---					
RBM25	58517	broad.mit.edu	37	14	73572734	73572737	+	Frame_Shift_Del	DEL	ACGA	ACGA	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:73572734_73572737delACGA	ENST00000261973.7	+	11	1607_1610	c.1322_1325delACGA	c.(1321-1326)tafs	p.YE441fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.YE441fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	441	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GAAGATGCATACGAACGAAGAAAA	0.422													7	499	---	---	---	---					
RP11-991C1.2	0	broad.mit.edu	37	14	95516588	95516610	+	RNA	DEL	GGAAGGAAGGAAGGAAAGAAGAA	GGAAGGAAGGAAGGAAAGAAGAA	-	rs36211516	by1000genomes	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA	ENST00000554033.1	+	0	41																											aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg	0.448													7	36	---	---	---	---					
IGHG4	3503	broad.mit.edu	37	14	106091519	106091520	+	RNA	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr14:106091519_106091520insG	ENST00000390543.2	-	0	373_374																											CCTTGGGTTTTGGGGGGAACAG	0.619													9	437	---	---	---	---					
OR4N4	283694	broad.mit.edu	37	15	22382641	22382642	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:22382641_22382642insC	ENST00000328795.4	+	1	260_261	c.169_170insC	c.(169-171)cccfs	p.P57fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		TGGGCTCACAGCCCCCCTCTAT	0.460													7	700	---	---	---	---					
DUOX1	53905	broad.mit.edu	37	15	45457005	45457006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:45457005_45457006insC	ENST00000321429.4	+	35	4969_4970	c.4562_4563insC	c.(4561-4563)gccfs	p.A1521fs	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.A1521fs|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1521					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.G1524fs*26(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTTAGCTGTGGCCCCCCTGGCA	0.545													8	879	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4219-4224)ccccccfs	p.PP1407fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1407						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.470											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	728	---	---	---	---					
ANPEP	290	broad.mit.edu	37	15	90349370	90349371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:90349370_90349371insG	ENST00000300060.6	-	2	757_758	c.444_445insC	c.(442-447)ccacatfs	p.H149fs		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	149	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TTGTCAATGTCGGGGGGCTGGG	0.604													7	171	---	---	---	---					
IDH2	3418	broad.mit.edu	37	15	90631917	90631918	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:90631917_90631918insC	ENST00000330062.3	-	4	548_549	c.435_436insG	c.(433-438)ggctgtfs	p.C146fs	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Frame_Shift_Ins_p.C94fs|IDH2_ENST00000539790.1_Frame_Shift_Ins_p.C16fs	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	146					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGGAAGACAGTCCCCCCCAGGA	0.564			M		GBM								12	152	---	---	---	---					
CHSY1	22856	broad.mit.edu	37	15	101775436	101775437	+	Frame_Shift_Ins	INS	-	-	C	rs74545602	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr15:101775436_101775437insC	ENST00000254190.3	-	2	1141_1142	c.666_667insG	c.(664-669)ggctggfs	p.W223fs		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	223					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACGCCAGGCCCCCCCATGC	0.614													7	107	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)cccfs	p.P1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525													12	1142	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													9	996	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													11	520	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	20976647	20976648	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:20976647_20976648insG	ENST00000261383.3	-	53	8557_8558	c.8558_8559insC	c.(8557-8559)cctfs	p.P2853fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2853	Stalk (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)		TCATGGTCAGTGGGGGGATGTT	0.460													13	737	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:30100077_30100078insC	ENST00000553607.1	-	4	1397_1398	c.704_705insG	c.(703-705)gatfs	p.D235fs	TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_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													8	207	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3730-3735)gcggggfs	p.AG1244fs	SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1244	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614													14	872	---	---	---	---					
SETD1A	9739	broad.mit.edu	37	16	30977316	30977317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:30977316_30977317insC	ENST00000262519.8	+	8	2800_2801	c.2114_2115insC	c.(2113-2115)gccfs	p.A705fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCTCAGCTGGCCCCCCCGGTG	0.644													7	153	---	---	---	---					
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(853-858)ctccccfs	p.LP285fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599													10	149	---	---	---	---					
NOD2	64127	broad.mit.edu	37	16	50745398	50745399	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:50745398_50745399insC	ENST00000300589.2	+	4	1681_1682	c.1576_1577insC	c.(1576-1578)cccfs	p.P526fs		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	526	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTGCATGCCACCCCCCCAGAC	0.619													8	105	---	---	---	---					
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1224)gccfs	p.A408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													12	316	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cctggtfs	p.G768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574													9	141	---	---	---	---					
DPEP2	64174	broad.mit.edu	37	16	68021467	68021468	+	Frame_Shift_Ins	INS	-	-	G	rs1133090	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr16:68021467_68021468insG	ENST00000412757.2	-	12	2067_2068	c.1402_1403insC	c.(1402-1404)catfs	p.H468fs	DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	468			H -> D (in dbSNP:rs1133090).		hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGGGCCATGTGGGGGGAGGAC	0.545													7	383	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	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													8	585	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)cccfs	p.P298fs	AC027763.2_ENST00000575727.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase.		A -> T.		anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554													12	684	---	---	---	---					
PLSCR3	57048	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:7294058_7294059insC	ENST00000535512.1	-	10	1742_1743	c.725_726insG	c.(724-726)gctfs	p.A242fs	PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	242					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				CTCGGACCAGGCCCCCCCACTG	0.614													12	212	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:7798764_7798765insC	ENST00000380358.4	+	10	1789_1790	c.1788_1789insC	c.(1786-1791)ccccccfs	p.PP596fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574													27	314	---	---	---	---					
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:8222137_8222138insG	ENST00000361926.3	+	12	2052_2053	c.1942_1943insG	c.(1942-1944)gggfs	p.G648fs	ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs	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													10	200	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs35554312		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cctgtcfs	p.V625fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.470													11	210	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													8	225	---	---	---	---					
TAF15	8148	broad.mit.edu	37	17	34171885	34171886	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:34171885_34171886insG	ENST00000588240.1	+	15	1697_1698	c.1582_1583insG	c.(1582-1584)gggfs	p.G528fs	TAF15_ENST00000592237.1_Splice_Site_p.TG332_splice|TAF15_ENST00000311979.3_Frame_Shift_Ins_p.G525fs	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	84	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)ggctcgfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604													9	237	---	---	---	---					
DHX8	1659	broad.mit.edu	37	17	41570235	41570236	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:41570235_41570236insC	ENST00000262415.3	+	6	762_763	c.690_691insC	c.(688-693)agccccfs	p.SP230fs	DHX8_ENST00000540306.1_Frame_Shift_Ins_p.SP230fs	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	230						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGAGTCAGAGTCCCCCCAAAGA	0.569													7	267	---	---	---	---					
DUSP3	1845	broad.mit.edu	37	17	41852151	41852152	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:41852151_41852152delTG	ENST00000226004.3	-	2	343_344	c.280_281delCA	c.(280-282)gfs	p.Q94fs	DUSP3_ENST00000397937.2_Frame_Shift_Del_p.Q53fs	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	94					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		GTTGAACTCCTGTGTGTCGTTG	0.535													16	203	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													9	555	---	---	---	---					
ANKFN1	162282	broad.mit.edu	37	17	54428180	54428181	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:54428180_54428181insA	ENST00000566473.2	+	4	251_252	c.251_252insA	c.(250-252)taafs	p.*84fs	ANKFN1_ENST00000318698.2_Frame_Shift_Ins_p.*84fs			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	84										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTCTGTCAGTCAAAAAAACATA	0.426													7	293	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs			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													7	844	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814568	60814569	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:60814568_60814569insT	ENST00000544856.2	-	7	1035_1036	c.657_658insA	c.(655-660)aagagafs	p.R220fs	MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.R221fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.R221fs|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.R259fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	221							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTCGGGTCTCCTTTTTTGGCTC	0.510													8	663	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													8	945	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													7	237	---	---	---	---					
AQP4-AS1	147429	broad.mit.edu	37	18	24445878	24445880	+	RNA	DEL	TTT	TTT	-	rs68070007		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr18:24445878_24445880delTTT	ENST00000568797.1	+	0	53				AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NR_026908.1																						ATTTACTTAATTTTTTTTTTTTT	0.300													6	3	---	---	---	---					
INSR	3643	broad.mit.edu	37	19	7168022	7168023	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:7168022_7168023insG	ENST00000341500.5	-	7	1605_1606	c.1566_1567insC	c.(1564-1569)ccacttfs	p.L523fs	INSR_ENST00000302850.5_Frame_Shift_Ins_p.L523fs	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	523					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTCGGAAGTCGGGGGGCCAGT	0.475													11	294	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													13	511	---	---	---	---					
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599													8	570	---	---	---	---					
TYK2	7297	broad.mit.edu	37	19	10463112	10463113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:10463112_10463113insG	ENST00000525621.1	-	23	3796_3797	c.3315_3316insC	c.(3313-3318)cccgaafs	p.E1106fs	TYK2_ENST00000529422.1_Intron|TYK2_ENST00000524462.1_Frame_Shift_Ins_p.E921fs|TYK2_ENST00000264818.6_Frame_Shift_Ins_p.E1106fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1106	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTCTCACCGTGGGGGGGCTCT	0.599													11	116	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:12155624_12155625insT	ENST00000602107.1	-	5	731_732	c.732_733insA	c.(730-735)aacctafs	p.NL244fs	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs			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													15	710	---	---	---	---					
NOTCH3	4854	broad.mit.edu	37	19	15276860	15276861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:15276860_15276861insC	ENST00000263388.2	-	30	5479_5480	c.5404_5405insG	c.(5404-5406)tctfs	p.S1802fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1802					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCTCCAGAGCCCCCCCACAG	0.569													7	137	---	---	---	---					
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(484-489)gtccccfs	p.VP162fs	MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	162						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653													9	184	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)gtafs	p.V546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559													14	323	---	---	---	---					
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:41825517_41825518insC	ENST00000269967.3	+	3	663_664	c.541_542insC	c.(541-543)cccfs	p.P181fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	181										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCGGTTCCGGGCCCCCCTGCTA	0.644													7	1209	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													16	908	---	---	---	---					
ZNF404	342908	broad.mit.edu	37	19	44378023	44378024	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:44378023_44378024insT	ENST00000587539.1	-	3	341_342	c.342_343insA	c.(340-345)aaataafs	p.*115fs	ZNF404_ENST00000324394.6_Frame_Shift_Ins_p.*113fs	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AGGGATTTATGTTTTTTGAATA	0.332													7	487	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C	rs146240710		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:45556128_45556129insC	ENST00000544944.2	+	3	969_970	c.277_278insC	c.(277-279)cccfs	p.P93fs	CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs|CLASRP_ENST00000391953.4_Intron			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing|RNA splicing	nucleus		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614													7	200	---	---	---	---					
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:45805663_45805664insC	ENST00000300843.4	+	18	2331_2332	c.2034_2035insC	c.(2032-2037)ccccccfs	p.PP678fs	MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	0					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639													11	426	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs	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													10	322	---	---	---	---					
SNRNP70	6625	broad.mit.edu	37	19	49589711	49589712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:49589711_49589712insC	ENST00000221448.5	+	2	236_237	c.40_41insC	c.(40-42)cccfs	p.P14fs	SNRNP70_ENST00000598441.1_Frame_Shift_Ins_p.P14fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	14					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.R16fs*2(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGCCCTCTTTGCCCCCCGTGAC	0.540													8	652	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													19	559	---	---	---	---					
POLD1	5424	broad.mit.edu	37	19	50905323	50905324	+	Frame_Shift_Ins	INS	-	-	G	rs140707092		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:50905323_50905324insG	ENST00000440232.2	+	5	584_585	c.531_532insG	c.(529-534)cgggggfs	p.RG177fs	POLD1_ENST00000599857.1_Frame_Shift_Ins_p.RG177fs|POLD1_ENST00000595904.1_Frame_Shift_Ins_p.RG177fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	177			R -> H (in dbSNP:rs3218750).		base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	p.R177R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGACAGTCGCGGGGGGAGGGA	0.673								DNA polymerases (catalytic subunits)					8	123	---	---	---	---					
GPR32	2854	broad.mit.edu	37	19	51274914	51274915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:51274914_51274915insC	ENST00000270590.4	+	1	1194_1195	c.1057_1058insC	c.(1057-1059)cccfs	p.P353fs		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	353						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTGGCAACGCCCCCCGGGAA	0.525													14	288	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													17	397	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(850-855)tgggggfs	p.WG284fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	284					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441													15	689	---	---	---	---					
CNOT3	4849	broad.mit.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)cccfs	p.P242fs	CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	242					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)					GGTCGCCACCTCCCCTCCCAGC	0.644													11	138	---	---	---	---					
BRSK1	84446	broad.mit.edu	37	19	55800871	55800872	+	Frame_Shift_Ins	INS	-	-	G	rs142000353		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:55800871_55800872insG	ENST00000309383.1	+	4	618_619	c.341_342insG	c.(340-342)tggfs	p.W114fs	BRSK1_ENST00000585418.1_Frame_Shift_Ins_p.W114fs|BRSK1_ENST00000590333.1_Frame_Shift_Ins_p.W130fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	114	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GAGCACGTCTCGGGGGGTGAGC	0.589													7	195	---	---	---	---					
ZNF628	89887	broad.mit.edu	37	19	55993042	55993042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:55993042delC	ENST00000598519.1	+	3	1035	c.482delC	c.(481-483)tcfs	p.S162fs	ZNF628_ENST00000391718.2_Frame_Shift_Del_p.S158fs	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	158						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGAACTCGTCCAGCCTGCGG	0.662													31	42	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													12	455	---	---	---	---					
PSMF1	9491	broad.mit.edu	37	20	1145690	1145691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:1145690_1145691insC	ENST00000335877.6	+	7	958_959	c.782_783insC	c.(781-783)cccfs	p.P261fs	PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.P261fs|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000484891.1_3'UTR	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	261	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCAGACCATCTCCCCCCGCCGG	0.579													7	260	---	---	---	---					
JAG1	182	broad.mit.edu	37	20	10630923	10630924	+	Frame_Shift_Ins	INS	-	-	G	rs144204614		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:10630923_10630924insG	ENST00000254958.5	-	9	1720_1721	c.1205_1206insC	c.(1204-1206)ccafs	p.P402fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.P243fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	402	EGF-like 5; calcium-binding (Potential).				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						CAGTCCACTGTGGGGGGCACAC	0.465									Alagille Syndrome				7	120	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													18	420	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													26	432	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													11	99	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													14	238	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													17	369	---	---	---	---					
RBPJL	11317	broad.mit.edu	37	20	43940237	43940238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:43940237_43940238insC	ENST00000343694.3	+	4	338_339	c.266_267insC	c.(265-267)tccfs	p.S89fs	RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	89					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGGTTCTTCTGCCCCCCGCCCT	0.604											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	217	---	---	---	---					
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:44680421_44680422insG	ENST00000454036.1	+	18	2434_2435	c.2358_2359insG	c.(2356-2361)ctggggfs	p.LG786fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	786					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599													7	352	---	---	---	---					
N6AMT1	29104	broad.mit.edu	37	21	30252215	30252216	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr21:30252215_30252216insG	ENST00000303775.5	-	4	397_398	c.372_373insC	c.(370-375)ccatgtfs	p.C125fs	N6AMT1_ENST00000351429.3_Intron	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	125	Substrate binding (By similarity).				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GTCACTACATAGGGGGGATTAA	0.307													7	270	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													8	507	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:18022285_18022286insC	ENST00000262608.8	+	15	2390_2391	c.2390_2391insC	c.(2389-2391)gccfs	p.A797fs	CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609													9	273	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022443	18022444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:18022443_18022444insG	ENST00000262608.8	+	15	2548_2549	c.2548_2549insG	c.(2548-2550)gggfs	p.G850fs	CECR2_ENST00000400585.2_Frame_Shift_Ins_p.G708fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.G849fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	891					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAGGCTCTTCGGGGGGTGCAG	0.634													7	185	---	---	---	---					
DGCR14	8220	broad.mit.edu	37	22	19124912	19124913	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:19124912_19124913insC	ENST00000252137.6	-	8	1001_1002	c.958_959insG	c.(958-960)ggtfs	p.G320fs		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	320					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTTCTCAACCTCCCCCCAGGTC	0.594													7	346	---	---	---	---					
GNAZ	2781	broad.mit.edu	37	22	23438487	23438488	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:23438487_23438488insG	ENST00000248996.4	+	2	1271_1272	c.605_606insG	c.(604-606)gggfs	p.G202fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	202						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAGA	0.574													9	93	---	---	---	---					
ZNF70	7621	broad.mit.edu	37	22	24087085	24087086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:24087085_24087086insG	ENST00000341976.3	-	2	702_703	c.242_243insC	c.(241-243)cggfs	p.R81fs		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	81						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GTCTGGTTCCTGGGGGGATACT	0.495													8	1194	---	---	---	---					
NEFH	4744	broad.mit.edu	37	22	29885754	29885777	+	In_Frame_Del	DEL	AAGTCCCCAGTGAAGGAAGAAGCA	AAGTCCCCAGTGAAGGAAGAAGCA	-	rs139600064	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:29885754_29885777delAAGTCCCCAGTGAAGGAAGAAGCA	ENST00000310624.6	+	4	2158_2181	c.2125_2148delAAGTCCCCAGTGAAGGAAGAAGCA	c.(2125-2148)del	p.KSPVKEEA709del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	715	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament		p.E715K(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTG	0.562													9	364	---	---	---	---					
MTMR3	8897	broad.mit.edu	37	22	30415990	30415991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:30415990_30415991insC	ENST00000333027.3	+	17	2670_2671	c.2342_2343insC	c.(2341-2343)gccfs	p.A781fs	MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.A645fs|MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.A781fs|MTMR3_ENST00000401950.2_Frame_Shift_Ins_p.A781fs|MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.A781fs|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	781					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTCTCCAGGTCCCCCCCAGGG	0.554													7	278	---	---	---	---					
TMPRSS6	164656	broad.mit.edu	37	22	37499435	37499436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:37499435_37499436insG	ENST00000381792.2	-	2	162_163	c.22_23insC	c.(22-24)ggtfs	p.G8fs	TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	17					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTCG	0.658													12	930	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)cccfs	p.P1234fs	TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.450													14	718	---	---	---	---					
MEI1	150365	broad.mit.edu	37	22	42159249	42159250	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:42159249_42159250insC	ENST00000401548.3	+	19	2232_2233	c.2192_2193insC	c.(2191-2193)cccfs	p.P731fs	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.P49fs|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.P471fs|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.P99fs	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	731							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGGCGAGCGCCCCCCACTGG	0.535											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	248	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													9	356	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'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													30	605	---	---	---	---					
ZNF645	158506	broad.mit.edu	37	X	22291220	22291221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:22291220_22291221insG	ENST00000323684.1	+	1	156_157	c.112_113insG	c.(112-114)gggfs	p.G38fs		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	38						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGGTTACCGTTGGGGGGACATT	0.351													10	324	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													10	373	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													7	1011	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													15	563	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)gccfs	p.A482fs	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								24	219	---	---	---	---					
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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				8	134	---	---	---	---					
COL4A5	1287	broad.mit.edu	37	X	107834821	107834822	+	Frame_Shift_Ins	INS	-	-	C	rs104886321		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:107834821_107834822insC	ENST00000328300.6	+	21	1614_1615	c.1370_1371insC	c.(1369-1371)gccfs	p.A457fs	COL4A5_ENST00000361603.2_Frame_Shift_Ins_p.A457fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	457	Triple-helical region.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGAT	0.406									Alport syndrome with Diffuse Leiomyomatosis				9	520	---	---	---	---					
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	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													13	358	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150842424	150842425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:150842424_150842425insC	ENST00000370357.4	+	15	2186_2187	c.1941_1942insC	c.(1939-1944)ggccccfs	p.GP647fs		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	647						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTATCAAGGGCCCCCCGTGAA	0.455													12	332	---	---	---	---					
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)atfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413													8	438	---	---	---	---					
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)afs	p.E823fs	MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATTGATTTCTCTCTCTCTC	0.401													8	138	---	---	---	---					
ZNF876P	642280	broad.mit.edu	37	4	206717	206736	+	RNA	DEL	GGGACCCGCGCTCCTGTCGG	GGGACCCGCGCTCCTGTCGG	-	rs36228091		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr4:206717_206736delGGGACCCGCGCTCCTGTCGG	ENST00000356347.3	+	0	172					NR_027481.1																						CCTCCGGTGAGGGACCCGCGCTCCTGTCGGGGGACCCGCG	0.718													3	5	---	---	---	---					
SLC12A9	56996	broad.mit.edu	37	7	100459450	100459451	+	Frame_Shift_Ins	INS	-	-	C	rs143756205	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr7:100459450_100459451insC	ENST00000354161.3	+	12	1753_1754	c.1628_1629insC	c.(1627-1629)ggcfs	p.G543fs	SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.G543fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.G543fs|SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.G454fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.G454fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	543						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AACCCCCGGGGCGCCCTGCCTC	0.649													7	114	---	---	---	---					
ZNF79	7633	broad.mit.edu	37	9	130206998	130207012	+	In_Frame_Del	DEL	AGGCCTTCAGTTACT	AGGCCTTCAGTTACT	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr9:130206998_130207012delAGGCCTTCAGTTACT	ENST00000342483.5	+	5	1425_1439	c.1019_1033delAGGCCTTCAGTTACT	c.(1018-1035)agc>a	p.KAFSYC340del	ZNF79_ENST00000543471.1_In_Frame_Del_p.KAFSYC316del	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGTGTGGGAAGGCCTTCAGTTACTGCGCAGCGTT	0.577													40	113	---	---	---	---					
DUSP3	1845	broad.mit.edu	37	17	41852151	41852152	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr17:41852151_41852152delTG	ENST00000226004.3	-	2	343_344	c.280_281delCA	c.(280-282)gfs	p.Q94fs	DUSP3_ENST00000397937.2_Frame_Shift_Del_p.Q53fs	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	94					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		GTTGAACTCCTGTGTGTCGTTG	0.535													15	159	---	---	---	---					
ZNF628	89887	broad.mit.edu	37	19	55993042	55993042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr19:55993042delC	ENST00000391718.2	+	3	1035	c.470delC	c.(469-471)tcfs	p.S158fs	ZNF628_ENST00000598519.1_Frame_Shift_Del_p.S162fs			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	158						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGAACTCGTCCAGCCTGCGG	0.662													19	34	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	fd7a1e36-3c3b-4817-be33-3ce1f442bb7b	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													10	1082	---	---	---	---					
NOC2L	26155	broad.mit.edu	37	1	880150	880151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:880150_880151insC	ENST00000327044.6	-	19	2222_2223	c.2173_2174insG	c.(2173-2175)cccfs	p.P725fs		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	725	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCCCCAGGGGCCAGCCCCGCC	0.614													3	6	---	---	---	---					
LOC101927209	101927209	broad.mit.edu	37	1	142699941	142699942	+	RNA	DEL	TA	TA	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:142699941_142699942delTA	ENST00000369381.2	-	0	2077																											GAGGAAACACtatatatatata	0.248													5	8	---	---	---	---					
ARHGEF3	50650	broad.mit.edu	37	3	56789130	56789131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:56789130_56789131insG	ENST00000413728.2	-	3	814_815	c.271_272insC	c.(271-273)accfs	p.T91fs	ARHGEF3_ENST00000496106.1_Frame_Shift_Ins_p.T91fs|ARHGEF3_ENST00000296315.3_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000497267.1_Frame_Shift_Ins_p.T56fs|ARHGEF3_ENST00000495373.1_Frame_Shift_Ins_p.T85fs|ARHGEF3_ENST00000338458.4_Frame_Shift_Ins_p.T117fs	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	85					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGACCAGGGTCGGGGGGCGAGG	0.579													7	382	---	---	---	---					
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs76346895		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:75790810_75790811insT	ENST00000422325.1	-	3	456_457	c.134_135insA	c.(133-135)actfs	p.T45fs	ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000491507.1_5'UTR	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN	zinc finger protein 717	45					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.510													4	3	---	---	---	---					
SLC9C1	285335	broad.mit.edu	37	3	111936361	111936362	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:111936361_111936362insT	ENST00000305815.5	-	15	1969_1970	c.1717_1718insA	c.(1717-1719)agtfs	p.S573fs	SLC9C1_ENST00000487372.1_Frame_Shift_Ins_p.S525fs	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	573					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AAAGGTAACTGTTTTTTGGCTT	0.297													7	149	---	---	---	---					
EPHB1	2047	broad.mit.edu	37	3	134851847	134851848	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:134851847_134851848insC	ENST00000398015.3	+	5	1623_1624	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	418	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGAGTCCCTTCCCCCCACAGC	0.579													8	270	---	---	---	---					
MME	4311	broad.mit.edu	37	3	154884713	154884714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:154884713_154884714insC	ENST00000460393.1	+	18	1803_1804	c.1683_1684insC	c.(1681-1686)caccccfs	p.HP561fs	MME_ENST00000492661.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000493237.1_Frame_Shift_Ins_p.HP561fs|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000360490.2_Frame_Shift_Ins_p.HP561fs	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	561					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.Q561H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GCATTCTGCAGCCCCCCTTCTT	0.446													9	420	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2																						catgcgcaacaggggactgtaa	0.366													3	6	---	---	---	---					
IGFBP7	3490	broad.mit.edu	37	4	57907076	57907077	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:57907076_57907077insG	ENST00000295666.4	-	2	531_532	c.498_499insC	c.(496-501)ccaggafs	p.G167fs	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Frame_Shift_Ins_p.G167fs	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	167	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGATGTCCTTGGGGGGCGTCA	0.505													7	202	---	---	---	---					
CXCL9	4283	broad.mit.edu	37	4	76924806	76924806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:76924806delT	ENST00000264888.5	-	4	361	c.323delA	c.(322-324)agfs	p.K109fs	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	109					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAGAACTTTCTTTTTTTGATG	0.333													8	715	---	---	---	---					
RP11-242J7.1	0	broad.mit.edu	37	4	185536410	185536413	+	RNA	DEL	TTTG	TTTG	-	rs146473442		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:185536410_185536413delTTTG	ENST00000522554.1	-	0	292																											CAAAGCCGATtttgtttgtttgtt	0.451													4	6	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr5:149755744_149755745insC	ENST00000451292.1	+	13	2101_2102	c.1993_1994insC	c.(1993-1995)cccfs	p.P665fs	TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240).		skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584													9	454	---	---	---	---					
BTN2A3P	54718	broad.mit.edu	37	6	26422387	26422388	+	RNA	INS	-	-	CTTCCTCCTCCTCCT	rs141260282	by1000genomes	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:26422387_26422388insCTTCCTCCTCCTCCT	ENST00000466808.2	+	0	41_42																											CGGCCAGCCTCCCTCCTCCTCC	0.589													7	103	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76112242	76112243	+	Frame_Shift_Ins	INS	-	-	C	rs143934697		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr7:76112242_76112243insC	ENST00000324432.5	+	5	1196_1197	c.686_687insC	c.(685-687)cccfs	p.P229fs	DTX2_ENST00000430490.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.P138fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.P229fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	229					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTCCCCCAGCACCCCCCACACA	0.649													7	220	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142445062	142445063	+	RNA	INS	-	-	G	rs79308669	by1000genomes	TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr8:142445062_142445063insG	ENST00000606664.1	+	0	418_419				MROH5_ENST00000430863.1_RNA																							TGGGACGGGCTGGGGGCCCTGG	0.644													4	2	---	---	---	---					
ZNF79	7633	broad.mit.edu	37	9	130206998	130207012	+	In_Frame_Del	DEL	AGGCCTTCAGTTACT	AGGCCTTCAGTTACT	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:130206998_130207012delAGGCCTTCAGTTACT	ENST00000342483.5	+	5	1425_1439	c.1019_1033delAGGCCTTCAGTTACT	c.(1018-1035)agc>a	p.KAFSYC340del	ZNF79_ENST00000543471.1_In_Frame_Del_p.KAFSYC316del	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGTGTGGGAAGGCCTTCAGTTACTGCGCAGCGTT	0.577													96	280	---	---	---	---					
APBB1	322	broad.mit.edu	37	11	6423807	6423808	+	Splice_Site	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:6423807_6423808insC	ENST00000389906.2	-	7	1351_1352	c.1254_splice	c.e7+1	p.R418_splice	APBB1_ENST00000311051.3_Splice_Site_p.R418_splice|APBB1_ENST00000299402.6_Splice_Site_p.R418_splice|APBB1_ENST00000530885.1_Splice_Site_p.R198_splice|APBB1_ENST00000533407.1_Splice_Site_p.R159_splice|APBB1_ENST00000524626.1_5'UTR	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	418	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGTCCTTACTTCCCCCCAGCCC	0.584													11	409	---	---	---	---					
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs142447712		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:66272154_66272155insC	ENST00000532677.1	+	17	2408_2409	c.2007_2008insC	c.(2005-2010)gcccccfs	p.AP669fs	DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	650					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579													8	233	---	---	---	---					
CTD-3074O7.11	0	broad.mit.edu	37	11	66299155	66299156	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:66299155_66299156insC	ENST00000419755.3	+	16	1826_1827	c.1748_1749insC	c.(1747-1749)tccfs	p.S583fs	BBS1_ENST00000318312.7_Frame_Shift_Ins_p.S546fs|BBS1_ENST00000455748.2_Frame_Shift_Ins_p.S449fs|BBS1_ENST00000393994.2_Frame_Shift_Ins_p.S417fs|ZDHHC24_ENST00000526986.1_Intron																							GGGCTCAACTACCCCCTGGAGA	0.540													8	1010	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6701714	6701715	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:6701714_6701715insA	ENST00000309577.6	-	19	2955_2956	c.2792_2793insT	c.(2791-2793)tgafs	p.*931fs	CHD4_ENST00000357008.2_Frame_Shift_Ins_p.*931fs|CHD4_ENST00000544484.1_Frame_Shift_Ins_p.*928fs|CHD4_ENST00000544040.1_Frame_Shift_Ins_p.*924fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	931					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CAAACTCCTCCAAAAAACCTTC	0.436													9	698	---	---	---	---					
TROAP	10024	broad.mit.edu	37	12	49725380	49725381	+	Frame_Shift_Ins	INS	-	-	C	rs78835037		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:49725380_49725381insC	ENST00000551245.1	+	14	2698_2699	c.2587_2588insC	c.(2587-2589)cccfs	p.P863fs	TROAP_ENST00000257909.3_Frame_Shift_Ins_p.P773fs|TROAP_ENST00000547923.1_Frame_Shift_Ins_p.P452fs			Q12815	TROAP_HUMAN	trophinin associated protein	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGGTTCTGCTGCCCCCCAGGGC	0.550											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	409	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112601004	112601005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:112601004_112601005insC	ENST00000550722.1	-	75	12918_12919	c.12523_12524insG	c.(12523-12525)cctfs	p.P4175fs	HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.P3899fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4149fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CATCTCCAGGGCCCCCCAGAAG	0.614													8	135	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													4	7	---	---	---	---					
LRRC16B	90668	broad.mit.edu	37	14	24532702	24532703	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr14:24532702_24532703insC	ENST00000342740.5	+	31	3093_3094	c.2939_2940insC	c.(2938-2940)cccfs	p.P980fs	LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.P76fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	980										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGGAGGCCCCGCCCCCCCAGGA	0.594													9	105	---	---	---	---					
RBM25	58517	broad.mit.edu	37	14	73572734	73572737	+	Frame_Shift_Del	DEL	ACGA	ACGA	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr14:73572734_73572737delACGA	ENST00000261973.7	+	11	1607_1610	c.1322_1325delACGA	c.(1321-1326)tafs	p.YE441fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.YE441fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	441	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GAAGATGCATACGAACGAAGAAAA	0.422													7	499	---	---	---	---					
DUOX1	53905	broad.mit.edu	37	15	45457005	45457006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr15:45457005_45457006insC	ENST00000321429.4	+	35	4969_4970	c.4562_4563insC	c.(4561-4563)gccfs	p.A1521fs	DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.A1521fs	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1521					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.G1524fs*26(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTTAGCTGTGGCCCCCCTGGCA	0.545													8	879	---	---	---	---					
ERN2	10595	broad.mit.edu	37	16	23718095	23718096	+	Frame_Shift_Ins	INS	-	-	G	rs143761786		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:23718095_23718096insG	ENST00000256797.4	-	6	778_779	c.610_611insC	c.(610-612)cctfs	p.P204fs	ERN2_ENST00000457008.2_Frame_Shift_Ins_p.P156fs	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	156					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGAG	0.604													8	360	---	---	---	---					
DUSP3	1845	broad.mit.edu	37	17	41852151	41852152	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr17:41852151_41852152delTG	ENST00000226004.3	-	2	343_344	c.280_281delCA	c.(280-282)gfs	p.Q94fs	DUSP3_ENST00000397937.2_Frame_Shift_Del_p.Q53fs	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	94					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		GTTGAACTCCTGTGTGTCGTTG	0.535													16	203	---	---	---	---					
CCDC97	90324	broad.mit.edu	37	19	41825594	41825595	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:41825594_41825595insC	ENST00000269967.3	+	3	740_741	c.618_619insC	c.(616-621)caccccfs	p.HP206fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	206										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CAACCCACCAGCCCCCCAAGCC	0.649													8	361	---	---	---	---					
BCKDHA	593	broad.mit.edu	37	19	41916543	41916544	+	Splice_Site	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:41916543_41916544insC	ENST00000269980.2	+	2	478_479	c.108_splice	c.e2-1	p.P37_splice	BCKDHA_ENST00000595085.1_Splice_Site_p.P71_splice|CTC-435M10.3_ENST00000540732.1_Splice_Site_p.P71_splice|BCKDHA_ENST00000457836.2_Intron	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	37					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTTCCCCAGCACCCCCCCAGGC	0.609													10	122	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C	rs146240710		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:45556128_45556129insC	ENST00000544944.2	+	3	969_970	c.277_278insC	c.(277-279)cccfs	p.P93fs	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing|RNA splicing	nucleus		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614													7	200	---	---	---	---					
POLD1	5424	broad.mit.edu	37	19	50905323	50905324	+	Frame_Shift_Ins	INS	-	-	G	rs140707092		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:50905323_50905324insG	ENST00000440232.2	+	5	584_585	c.531_532insG	c.(529-534)cgggggfs	p.RG177fs	POLD1_ENST00000599857.1_Frame_Shift_Ins_p.RG177fs|POLD1_ENST00000595904.1_Frame_Shift_Ins_p.RG177fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	177			R -> H (in dbSNP:rs3218750).		base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	p.R177R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGACAGTCGCGGGGGGAGGGA	0.673								DNA polymerases (catalytic subunits)					8	123	---	---	---	---					
ZNF628	89887	broad.mit.edu	37	19	55993042	55993042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:55993042delC	ENST00000391718.2	+	3	1035	c.470delC	c.(469-471)tcfs	p.S158fs	ZNF628_ENST00000598519.1_Frame_Shift_Del_p.S162fs			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	158						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGAACTCGTCCAGCCTGCGG	0.662													31	42	---	---	---	---					
JAG1	182	broad.mit.edu	37	20	10630923	10630924	+	Frame_Shift_Ins	INS	-	-	G	rs144204614		TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:10630923_10630924insG	ENST00000254958.5	-	9	1720_1721	c.1205_1206insC	c.(1204-1206)ccafs	p.P402fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.P243fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	402	EGF-like 5; calcium-binding (Potential).				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						CAGTCCACTGTGGGGGGCACAC	0.465									Alagille Syndrome				7	120	---	---	---	---					
RBPJL	11317	broad.mit.edu	37	20	43940237	43940238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01W-0886-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	732f3f23-27df-4367-88a2-06d4a2562aa7	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:43940237_43940238insC	ENST00000343694.3	+	4	338_339	c.266_267insC	c.(265-267)tccfs	p.S89fs	RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	89					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGGTTCTTCTGCCCCCCGCCCT	0.604											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	217	---	---	---	---					
CELSR2	1952	broad.mit.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs145548198	by1000genomes	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr1:109792735_109792736insCGC	ENST00000271332.3	+	1	95_96	c.34_35insCGC	c.(34-36)gcc>CGCgcc	p.11_12insR		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	11					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCTCCCAACgccgccgccg	0.752													10	9	---	---	---	---					
ZNF876P	642280	broad.mit.edu	37	4	206717	206736	+	RNA	DEL	GGGACCCGCGCTCCTGTCGG	GGGACCCGCGCTCCTGTCGG	-	rs36228091		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:206717_206736delGGGACCCGCGCTCCTGTCGG	ENST00000356347.3	+	0	172					NR_027481.1																						CCTCCGGTGAGGGACCCGCGCTCCTGTCGGGGGACCCGCG	0.718													3	5	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1388504	1388505	+	Frame_Shift_Del	DEL	CG	CG	-	rs115485610	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr4:1388504_1388505delCG	ENST00000324803.4	+	1	3165_3166	c.205_206delCG	c.(205-207)tfs	p.R69fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	69					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCTCACACACGTGTCCATGTG	0.629													14	919	---	---	---	---					
LOC101928516	101928516	broad.mit.edu	37	6	74942038	74942041	+	RNA	DEL	TTCA	TTCA	-	rs62439875	by1000genomes	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr6:74942038_74942041delTTCA	ENST00000435946.1	+	0	138																											ccttccttccttcatccctctctc	0.510													5	1	---	---	---	---					
SLC12A9	56996	broad.mit.edu	37	7	100459450	100459451	+	Frame_Shift_Ins	INS	-	-	C	rs143756205	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr7:100459450_100459451insC	ENST00000354161.3	+	12	1753_1754	c.1628_1629insC	c.(1627-1629)ggcfs	p.G543fs	SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.G454fs|SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.G454fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.G543fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.G543fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	543						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AACCCCCGGGGCGCCCTGCCTC	0.649													7	114	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142445062	142445063	+	RNA	INS	-	-	G	rs79308669	by1000genomes	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr8:142445062_142445063insG	ENST00000606664.1	+	0	418_419				MROH5_ENST00000430863.1_RNA																							TGGGACGGGCTGGGGGCCCTGG	0.644													19	8	---	---	---	---					
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	DEL	G	G	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373													7	158	---	---	---	---					
ZNF79	7633	broad.mit.edu	37	9	130206998	130207012	+	In_Frame_Del	DEL	AGGCCTTCAGTTACT	AGGCCTTCAGTTACT	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr9:130206998_130207012delAGGCCTTCAGTTACT	ENST00000342483.5	+	5	1425_1439	c.1019_1033delAGGCCTTCAGTTACT	c.(1018-1035)agc>a	p.KAFSYC340del	ZNF79_ENST00000543471.1_In_Frame_Del_p.KAFSYC316del	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGTGTGGGAAGGCCTTCAGTTACTGCGCAGCGTT	0.577													40	113	---	---	---	---					
MUC6	4588	broad.mit.edu	37	11	1031058	1031059	+	Splice_Site	INS	-	-	G	rs140721287	by1000genomes	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr11:1031058_1031059insG	ENST00000421673.2	-	6	625		c.e6-2			NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming						maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACTTGCCTGGGGTGCAGAA	0.703													7	8	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711145	6711147	+	In_Frame_Del	DEL	TCC	TCC	-	rs71584865	byFrequency	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:6711145_6711147delTCC	ENST00000309577.6	-	4	580_582	c.417_419delGGA	c.(415-420)gat>ga	p.ED139del	CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del|CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del|CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	139	Poly-Asp.		E -> D (in dbSNP:rs1639122).		chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATCATCATCAtcctcctcctcct	0.453													10	112	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													11	25	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													27	483	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													9	12	---	---	---	---					
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-	rs112613609		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)caa>ca	p.QQ507del	TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	507	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507													10	179	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													29	547	---	---	---	---					
RP11-51O6.1	0	broad.mit.edu	37	16	61089302	61089302	+	RNA	DEL	C	C	-	rs80101907		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:61089302delC	ENST00000591758.1	-	0	566																											GCttcttcttctttttttttt	0.244													9	82	---	---	---	---					
MON1B	22879	broad.mit.edu	37	16	77228709	77228710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr16:77228709_77228710insG	ENST00000248248.3	+	4	1303_1304	c.953_954insG	c.(952-954)gggfs	p.G318fs	MON1B_ENST00000545553.1_Frame_Shift_Ins_p.G172fs|MON1B_ENST00000439557.2_Frame_Shift_Ins_p.G209fs|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	318							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCCTTTGCGGCGGGTGAGGCTT	0.634													8	235	---	---	---	---					
DUSP3	1845	broad.mit.edu	37	17	41852151	41852152	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr17:41852151_41852152delTG	ENST00000226004.3	-	2	343_344	c.280_281delCA	c.(280-282)gfs	p.Q94fs	DUSP3_ENST00000397937.2_Frame_Shift_Del_p.Q53fs	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	94					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		GTTGAACTCCTGTGTGTCGTTG	0.535													15	159	---	---	---	---					
CTC-400I9.3	0	broad.mit.edu	37	19	31443058	31443059	+	RNA	INS	-	-	CTCC	rs144141390	by1000genomes	TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:31443058_31443059insCTCC	ENST00000587702.1	+	0	92																											tccctccctctctccctccctc	0.465													2	4	---	---	---	---					
LRP3	4037	broad.mit.edu	37	19	33696466	33696467	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:33696466_33696467insC	ENST00000253193.7	+	5	992_993	c.790_791insC	c.(790-792)cttfs	p.L264fs		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	264	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CTTCTACGGCTCCTTTGCCTCC	0.723													7	39	---	---	---	---					
AF038458.3	0	broad.mit.edu	37	19	36448398	36448398	+	RNA	DEL	T	T	-	rs35742682		TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:36448398delT	ENST00000592518.1	+	0	244																											ACCATAACCCttttttttttt	0.498													2	4	---	---	---	---					
ZNF628	89887	broad.mit.edu	37	19	55993042	55993042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr19:55993042delC	ENST00000598519.1	+	3	1035	c.482delC	c.(481-483)tcfs	p.S162fs	ZNF628_ENST00000391718.2_Frame_Shift_Del_p.S158fs	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	158						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGAACTCGTCCAGCCTGCGG	0.662													19	34	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3440-01A-01D-0966-08	TCGA-AK-3440-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	877aacee-3600-4c18-840f-62a3956018b9	3b3941ea-74eb-48e4-929b-a4dc00eabd1c	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													10	1082	---	---	---	---