Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CLIP2_chr7_74284407_74410935	74361176	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00733.hp1 others(11): Show HG00408.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01928.hp2 HG02109.hp2 HG02300.hp1 HG03516.hp1 HG04199.hp1 HG06807.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0010t0003 a0002c0006t0002	a0001c0001t0001g0087 a0001c0002t0001g0024 a0001c0002t0001g0025 others(11): Show a0001c0001t0001g0087 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0082 a0001c0002t0001g0090 a0001c0002t0001g0165 a0001c0002t0001g0185 a0001c0002t0001g0199 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0255 a0001c0002t0002g0241 a0001c0010t0003g0061 a0002c0006t0002g0040	14	42	0.3333	36	c.131 others(53): Show c.1319+930_1319+931insTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCC	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLIP2_chr7_74284407_74410935	74361201	T T	TTCCTTCC others(29): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0007 a0001c0019t0007	a0001c0019t0007g0142 a0001c0019t0007g0142	1	276	0.0036	36	c.131 others(53): Show c.1319+930_1319+931insTTCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCTTCC	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLMN_chr14_95176940_95324908	95293338	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCTTCTTTTCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0071 a0001c0001t0037g0071	1	274	0.0036	36	c.82+ others(53): Show c.82+26337_82+26372dupAGGAAGGAGGGAGGGAGGAAAAGAAGGA GGGAGGGA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLMP_chr11_123064872_123200248	123150416	T T	TAAGAAAG others(29): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0143 a0001c0001t0012g0143	1	166	0.0060	36	c.28+ others(53): Show c.28+44461_28+44496dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA20300.hp1 HG00438.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0165 a0001c0001t0008g0233 a0001c0001t0003g0165 a0001c0001t0008g0233	2	126	0.0159	36	c.28+ others(53): Show c.28+44432_28+44433insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp2 HG02258.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0209 a0001c0001t0004g0098 a0001c0001t0002g0209 a0001c0001t0004g0098	2	126	0.0159	36	c.28+ others(53): Show c.28+44432_28+44433insCCTTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0005 a0001c0001t0001 a0001c0004t0005	a0001c0001t0001g0102 a0001c0004t0005g0058 a0001c0001t0001g0102 a0001c0004t0005g0058	2	126	0.0159	36	c.28+ others(53): Show c.28+44432_28+44433insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLNK_chr4_10481395_10689768	10537702	C C	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	250	0.0040	36	c.602 others(53): Show c.602+2791_602+2792insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	15	0.0667	36	c.602 others(53): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGGAAGGAAG GAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0150 a0001c0001t0009g0150	1	15	0.0667	36	c.602 others(53): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGGAAG GAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18973.hp2 NA18999.hp1 others(1): Show NA18964.hp1 NA18973.hp2 NA18999.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 others(1): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0002c0002t0001	a0001c0001t0005g0270 a0001c0001t0012g0025 a0001c0001t0013g0261 others(1): Show a0001c0001t0005g0270 a0001c0001t0012g0025 a0001c0001t0013g0261 a0002c0002t0001g0040	4	18	0.2222	36	c.602 others(53): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG GAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(29): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00741.hp2 others(19): Show HG00099.hp2 HG00558.hp2 HG00741.hp2 HG01099.hp2 HG01891.hp1 HG02040.hp2 HG02055.hp2 HG02559.hp1 HG02738.hp1 HG02738.hp2 HG03453.hp2 HG03540.hp1 HG03710.hp1 NA18967.hp2 NA18970.hp2 NA18988.hp2 NA19000.hp1 NA19079.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0024 a0001c0001t0046 a0001c0001t0063 a0002c0002t0004 a0003c0003t0017 a0003c0003t0047 a0007c0011t0030	a0001c0001t0001g0003 a0001c0001t0001g0154 a0001c0001t0002g0018 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0154 a0001c0001t0002g0018 a0001c0001t0002g0159 a0001c0001t0002g0170 a0001c0001t0002g0288 a0001c0001t0003g0202 a0001c0001t0005g0108 a0001c0001t0005g0246 a0001c0001t0006g0156 a0001c0001t0007g0311 a0001c0001t0008g0213 a0001c0001t0008g0254 a0001c0001t0009g0162 a0001c0001t0014g0008 a0001c0001t0024g0227 a0001c0001t0046g0226 a0001c0001t0063g0029 a0002c0002t0004g0051 a0003c0003t0017g0114 a0003c0003t0047g0110 a0007c0011t0030g0199	22	36	0.6111	36	c.602 others(53): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01433.hp2 HG02630.hp1 others(4): Show HG01257.hp1 HG01433.hp2 HG02630.hp1 HG02809.hp1 HG03098.hp2 HG03516.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0002c0002t0001	a0001c0001t0001g0052 a0001c0001t0002g0137 a0001c0001t0004g0140 others(4): Show a0001c0001t0001g0052 a0001c0001t0002g0137 a0001c0001t0004g0140 a0001c0001t0004g0143 a0001c0001t0006g0086 a0001c0001t0009g0155 a0002c0002t0001g0002	7	21	0.3333	36	c.602 others(53): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10616790	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA20905.hp1 HG01934.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0047 a0003c0003t0007 a0003c0003t0047	a0003c0003t0007g0111 a0003c0003t0047g0110 a0003c0003t0007g0111 a0003c0003t0047g0110	2	214	0.0093	36	c.12- others(53): Show c.12-18777_12-18742dupTGTATATATATATATATATATATATATA TATATATA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10616793	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0112 a0003c0003t0017g0113 a0003c0003t0017g0112 a0003c0003t0017g0113	2	318	0.0063	36	c.12- others(53): Show c.12-18745_12-18744insGTATATATATATATATATATATATATAT ATATATAT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10654384	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG01358.hp2 others(5): Show HG00558.hp1 HG00597.hp1 HG01358.hp2 HG02145.hp2 HG03486.hp1 HG06807.hp2 NA19056.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025 a0001c0001t0031 a0001c0001t0035 a0001c0001t0042	a0001c0001t0003g0232 a0001c0001t0005g0242 a0001c0001t0013g0256 others(5): Show a0001c0001t0003g0232 a0001c0001t0005g0242 a0001c0001t0013g0256 a0001c0001t0023g0153 a0001c0001t0025g0192 a0001c0001t0031g0295 a0001c0001t0035g0193 a0001c0001t0042g0231	8	229	0.0349	36	c.11+ others(53): Show c.11+13474_11+13475insATATATATATATATATATATATATATAT ATATATAT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10654389	A A	ATATATAT others(29): Show ATATATATATATATATATATATTTATATATTTATATT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18983.hp2 NA19060.hp2 NA18950.hp1 NA18983.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0069 a0001c0001t0002 a0001c0001t0011 a0001c0001t0069	a0001c0001t0002g0122 a0001c0001t0011g0120 a0001c0001t0069g0121 a0001c0001t0002g0122 a0001c0001t0011g0120 a0001c0001t0069g0121	3	269	0.0112	36	c.11+ others(53): Show c.11+13469_11+13470insAATATAAATATATAAATATATATATATA TATATATA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLPTM1L_chr5_1312752_1350099	1333643	G G	GGACTACT others(29): Show GGACTACTGTAGACACACCGGATGAGGACAAGCGGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	334	0.0030	36	c.891 others(51): Show c.891+645_891+646insTCCCGCTTGTCCTCATCCGGTGTGTCTACA GTAGTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	294	0.0034	36	c.253 others(53): Show c.253+3142_253+3143insAAAATATATATATATATATATATATATA TATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19010.hp2 HG00280.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0170 a0001c0001t0001g0005 a0001c0001t0001g0170	2	295	0.0068	36	c.253 others(53): Show c.253+3142_253+3143insAAAAAAAATATATATATATATATATATA TATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	294	0.0034	36	c.253 others(53): Show c.253+3142_253+3143insAAAAAAAAAATATATATATATATATATA TATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSTN3_chr12_7125371_7163945	7154369	C C	CAGGCGTG others(29): Show CAGGCGTGGTTTTTTTTTTTTAGTATGTTTTTATATG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	392	0.0026	36	c.252 others(55): Show c.2528-3120_2528-3119insAGGCGTGGTTTTTTTTTTTTAGTATG TTTTTATATG	CLSTN3	ENSG00000139182.15	transcript	ENST00000266546.11	protein_coding	16/17			chr12	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAGAAAA others(29): Show AGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02451.hp2 NA18963.hp1 others(2): Show HG02056.hp1 HG02451.hp2 NA18963.hp1 NA18995.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0174 a0001c0001t0001g0241 a0001c0001t0001g0256 others(2): Show a0001c0001t0001g0174 a0001c0001t0001g0241 a0001c0001t0001g0256 a0001c0001t0001g0362 a0001c0001t0002g0132	5	126	0.0397	36	c.424 others(49): Show c.424-67_424-66insGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAA AAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CLU_chr8_27591917_27619700	27596824	C C	CGGGGGGG others(29): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	376	0.0027	36	c.14 others(47): Show c.1416_*1417insCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding		92		chr8	TogoVar
CMIP_chr16_81439808_81716762	81500272	G G	GTCCTTCC others(29): Show GTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18612.hp2 HG03139.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0159 a0001c0001t0005g0043 a0001c0001t0004g0159 a0001c0001t0005g0043	2	25	0.0800	36	c.300 others(55): Show c.300+54763_300+54764insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMYA5_chr5_79684836_79805222	79778811	C C	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0014 a0014	a0014c0038 a0014c0038	a0014c0038t0004 a0014c0038t0004	a0014c0038t0004g0260 a0014c0038t0004g0260	1	197	0.0051	36	c.115 others(59): Show c.11556-10135_11556-10134insGTGTGTGTGTATGTGTGTGTGT GTGTGTGTGTGTGT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	87361689	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0007 a0003c0003t0002g0007	1	98	0.0102	36	c.130 others(55): Show c.1303+7923_1303+7924insATATATATATATATATATATATATAT ATATATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNDP1_chr18_74529500_74592212	74573432	C C	CCATTCAT others(29): Show CCATTCATCCATCCATCCATCTATCTATGTATCTATG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19007.hp2 HG02083.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0347 a0001c0002t0001g0339 a0001c0001t0005g0347 a0001c0002t0001g0339	2	310	0.0065	36	c.841 others(53): Show c.841+2162_841+2163insCATTCATCCATCCATCCATCTATCTATG TATCTATG	CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	7/11			chr18	TogoVar
CNDP1_chr18_74529500_74592212	74573432	C C	CCATTCAT others(29): Show CCATTCATCCATCCATCCATCTATTTATGTATCTATG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp1 HG01071.hp1 others(47): Show HG00558.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02074.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 NA18906.hp2 NA18973.hp1 NA18983.hp2 NA19000.hp2 NA19002.hp1 NA19043.hp2 NA19062.hp1 NA19065.hp2 NA19068.hp1 NA19077.hp1 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0018	a0001c0001 a0001c0002 a0001c0005 others(14): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0028 a0002c0003 a0002c0004 a0003c0009 a0003c0016 a0003c0023 a0003c0030 a0004c0010 a0004c0014 a0004c0015 a0007c0024 a0007c0026 a0018c0033	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(32): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0002t0005 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0005t0006 a0001c0005t0009 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0008 a0001c0028t0001 a0002c0003t0005 a0002c0004t0001 a0003c0009t0002 a0003c0016t0001 a0003c0016t0004 a0003c0016t0008 a0003c0023t0002 a0003c0023t0009 a0003c0030t0002 a0004c0010t0002 a0004c0010t0004 a0004c0010t0020 a0004c0014t0001 a0004c0014t0005 a0004c0015t0007 a0004c0015t0014 a0007c0024t0001 a0007c0026t0001 a0018c0033t0002	a0001c0001t0001g0242 a0001c0001t0005g0375 a0001c0002t0002g0361 others(47): Show a0001c0001t0001g0242 a0001c0001t0005g0375 a0001c0002t0002g0361 a0001c0002t0005g0125 a0001c0005t0001g0177 a0001c0005t0002g0072 a0001c0005t0002g0073 a0001c0005t0002g0090 a0001c0005t0003g0318 a0001c0005t0004g0294 a0001c0005t0005g0011 a0001c0005t0005g0374 a0001c0005t0006g0178 a0001c0005t0009g0150 a0001c0005t0009g0252 a0001c0005t0009g0331 a0001c0006t0001g0285 a0001c0006t0001g0358 a0001c0006t0002g0271 a0001c0006t0003g0362 a0001c0006t0008g0117 a0001c0006t0008g0342 a0001c0028t0001g0274 a0001c0028t0001g0295 a0002c0003t0005g0015 a0002c0004t0001g0092 a0002c0004t0001g0189 a0003c0009t0002g0028 a0003c0009t0002g0029 a0003c0016t0001g0057 a0003c0016t0004g0026 a0003c0016t0008g0037 a0003c0023t0002g0031 a0003c0023t0009g0040 a0003c0030t0002g0059 a0004c0010t0002g0087 a0004c0010t0004g0070 a0004c0010t0020g0013 a0004c0014t0001g0207 a0004c0014t0001g0262 a0004c0014t0001g0360 a0004c0014t0005g0095 a0004c0014t0005g0282 a0004c0015t0007g0009 a0004c0015t0007g0324 a0004c0015t0014g0076 a0007c0024t0001g0083 a0007c0026t0001g0050 a0007c0026t0001g0051 a0018c0033t0002g0047	50	358	0.1397	36	c.841 others(53): Show c.841+2162_841+2163insCATTCATCCATCCATCCATCTATTTATG TATCTATG	CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	7/11			chr18	TogoVar
CNGA2_chrX_151729746_151750564	151743028	G G	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19043.hp1 HG02145.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0025 a0001c0006t0006g0025	2	233	0.0086	36	c.590 others(49): Show c.590-65_590-64insTGTATATATATATATATATATATATATATATA CACA	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6			chrX	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTTT others(29): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0011 a0011	a0011c0033 a0011c0033	a0011c0033t0001 a0011c0033t0001	a0011c0033t0001g0267 a0011c0033t0001g0267	1	168	0.0060	36	c.43 others(47): Show c.4376_*4377insGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAAA GA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA20905.hp1 NA19068.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0101 a0001c0001 a0003c0101	a0001c0001t0006 a0003c0101t0030 a0001c0001t0006 a0003c0101t0030	a0001c0001t0006g0242 a0003c0101t0030g0264 a0001c0001t0006g0242 a0003c0101t0030g0264	2	228	0.0088	36	c.43 others(47): Show c.4364_*4365insAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAA AG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879805	T T	TTCCCTCC others(29): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0062 a0001c0002t0022g0062	1	351	0.0028	36	c.43 others(47): Show c.4358_*4359insGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2534		chr16	TogoVar
CNKSR3_chr6_154382515_154515685	154446249	A A	AATTATAC others(29): Show AATTATACACATTTAGCTAAAAATTATACACATTTAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0133 a0001c0001t0102g0133	1	340	0.0029	36	c.216 others(53): Show c.216+3845_216+3846insCTAAATGTGTATAATTTTTAGCTAAATG TGTATAAT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	2/12			chr6	TogoVar
CNN2_chr19_1021608_1044065	1034762	G G	GAGCGTGG others(29): Show GAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0126 a0001c0001t0009g0126	1	387	0.0026	36	c.391 others(53): Show c.391-1352_391-1351insGGTGTCTGGTGTAGACGGTAAGCGTGGG TGGGACAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034810	G G	GACGGTGT others(29): Show GACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGAC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	347	0.0029	36	c.391 others(53): Show c.391-1302_391-1301insGGGGAGCGTGGGTGGGACACGGTGTCTG GTGTAGAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034986	G G	GACGGTGT others(29): Show GACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	261	0.0038	36	c.391 others(53): Show c.391-1126_391-1125insGGGGAGCGTGGGTGGGACACGGTGTCTG GTGTAGAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	73	0.0137	36	c.159 others(55): Show c.1596-4968_1596-4967insAAAAAAAATATATATATATATATATA TATATATATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG04115.hp1 HG02300.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0194 a0001c0001t0001g0170 a0001c0001t0001g0194	2	74	0.0270	36	c.159 others(55): Show c.1596-4968_1596-4967insAAAAAATATATATATATATATATATA TATATATATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT1_chr16_58514951_58634826	58601734	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0140 a0001c0008t0005g0140	1	57	0.0175	36	c.-17 others(55): Show c.-174-2224_-174-2223insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	1/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54142433	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03654.hp2 NA19067.hp2 HG01496.hp2 HG03654.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0059 a0001c0001t0001g0016 a0001c0001t0001g0059	3	61	0.0492	36	c.-50 others(51): Show c.-50-478_-50-477insACACACACACACACACACACACACACACAC ACACAC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(29): Show GACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18992.hp2 HG00438.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0292 a0001c0001t0017g0291 a0001c0001t0001g0292 a0001c0001t0017g0291	2	76	0.0263	36	c.5+2 others(47): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNOT6_chr5_180489379_180583358	180533312	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	76	0.0132	36	c.112 others(53): Show c.112+3955_112+3956insATATATATATATATATATATATATATAT ATATATAT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT6_chr5_180489379_180583358	180538686	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	174	0.0057	36	c.112 others(53): Show c.112+9328_112+9329insTATATATATATATATATATATATATATA TATATATA	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNPY1_chr7_155496129_155551559	155527030	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp2 HG02155.hp2 others(5): Show HG02040.hp1 HG02074.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp1 NA18981.hp1 NA18989.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0001t0001 a0001c0001t0002 a0001c0001t0025	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0140 others(5): Show a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0173 a0001c0001t0002g0181 a0001c0001t0025g0178	8	322	0.0248	36	c.100 others(55): Show c.100-17934_100-17933insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNPY1_chr7_155496129_155551559	155527054	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0407 a0001c0002t0017g0407	1	180	0.0056	36	c.100 others(55): Show c.100-17958_100-17957insAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNPY1_chr7_155496129_155551559	155542180	T T	TCAGGCAG others(29): Show TCAGGCAGGGAAGGCGGAGCTGGGCAGGGGAGTCAGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01981.hp1 HG02451.hp1 others(2): Show HG01975.hp1 HG01981.hp1 HG02451.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0032	a0001c0001t0001g0180 a0001c0001t0002g0179 a0001c0001t0010g0263 others(2): Show a0001c0001t0001g0180 a0001c0001t0002g0179 a0001c0001t0010g0263 a0001c0001t0010g0264 a0001c0001t0032g0262	5	424	0.0118	36	c.99+ others(51): Show c.99+3615_99+3650dupCCTGACTCCCCTGCCCAGCTCCGCCTTCCC TGCCTG	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNTN1_chr12_40687439_41077415	40773638	T T	TATATATA others(29): Show TATATATATATATATACACATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0009 a0002c0007t0008g0009	1	190	0.0053	36	c.-77 others(55): Show c.-77+81061_-77+81062insCACATATATATATATATACACATATA TATATATATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40844069	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	26	0.0385	36	c.-76 others(55): Show c.-76-64272_-76-64271insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40924881	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0182 a0001c0001t0009g0182	1	96	0.0104	36	c.496 others(51): Show c.496+246_496+247insTATATATATATATATATATATATATATATA TATATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr12	TogoVar

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