Joint Open Genome and Omics Platform (JoGo)

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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
MYOZ2_chr4_119130832_119192789	119134260	A A	AGATAGAT others(20): Show AGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01175.hp2 HG02300.hp1 others(1): Show HG00597.hp1 HG01175.hp2 HG02300.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0002g0080 others(1): Show a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0002g0080 a0001c0001t0002g0125	4	326	0.0123	27	c.-17 others(38): Show c.-1737_-1736insGATAGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1571		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134264	A A	AGATAGAT others(20): Show AGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0086 a0001c0001t0002g0085 a0001c0001t0001g0086 a0001c0001t0002g0085	2	251	0.0080	27	c.-17 others(38): Show c.-1733_-1732insGATAGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1567		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134268	A A	AGATAGAT others(20): Show AGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02886.hp1 others(8): Show HG02109.hp2 HG02559.hp1 HG02886.hp1 HG03471.hp2 NA18959.hp1 NA18964.hp2 NA18979.hp2 NA18992.hp1 NA19000.hp2 NA19083.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0195 a0001c0001t0001g0259 a0001c0001t0002g0021 others(7): Show a0001c0001t0001g0195 a0001c0001t0001g0259 a0001c0001t0002g0021 a0001c0001t0003g0162 a0001c0001t0003g0171 a0001c0001t0004g0015 a0001c0001t0004g0207 a0001c0001t0004g0211 a0001c0001t0005g0286 a0001c0002t0001g0301	11	301	0.0365	27	c.-17 others(38): Show c.-1729_-1728insGATAGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1563		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134272	A A	AGATAGAT others(20): Show AGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 NA18940.hp2 NA18945.hp1 others(5): Show HG01168.hp2 NA18940.hp2 NA18945.hp1 NA18983.hp2 NA18985.hp2 NA19070.hp2 NA19081.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0260 a0001c0001t0002g0040 a0001c0001t0002g0281 others(5): Show a0001c0001t0001g0260 a0001c0001t0002g0040 a0001c0001t0002g0281 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0003g0165 a0001c0001t0005g0041 a0001c0002t0001g0228	8	371	0.0216	27	c.-17 others(38): Show c.-1725_-1724insGATAGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1559		chr4	TogoVar
MYRFL_chr12_69820227_69964097	69877024	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02698.hp1 HG00280.hp2 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0276 a0001c0003t0001g0154 a0001c0003t0001g0276	2	148	0.0135	27	c.138 others(44): Show c.138-2002_138-2001insCTTTCTTTCTTTCTTTCTTTCTTTCTT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69945986	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01517.hp2 HG01358.hp1 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0068 a0002c0002t0003g0204 a0002c0002t0003g0068 a0002c0002t0003g0204	2	38	0.0526	27	c.222 others(46): Show c.2225-6125_2225-6099dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYSM1_chr1_58649743_58705062	58651443	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 NA18939.hp2 HG02135.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0189 a0001c0001t0004g0023 a0001c0001t0001g0189 a0001c0001t0004g0023	2	399	0.0050	27	c.85 others(38): Show c.8553_*8554insCACACACACACACACACACACACACAC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3299		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58654847	A A	ATTAAGTA others(20): Show ATTAAGTATGGAGAGTTCTGTCATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18960.hp1 NA18985.hp1 NA18998.hp1 others(2): Show NA18960.hp1 NA18985.hp1 NA18998.hp1 NA18999.hp2 NA19072.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0015 a0002c0005t0015	a0002c0005t0015g0215 a0002c0005t0015g0216 a0002c0005t0015g0217 others(2): Show a0002c0005t0015g0215 a0002c0005t0015g0216 a0002c0005t0015g0217 a0002c0005t0015g0218 a0002c0005t0015g0219	5	408	0.0123	27	c.51 others(38): Show c.5123_*5149dupAAAAATGACAGAACTCTCCATACTTAA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	20/20	5149		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02257.hp2 HG02572.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0011 a0005c0006t0003 a0005c0006t0011	a0005c0006t0003g0316 a0005c0006t0011g0314 a0005c0006t0003g0316 a0005c0006t0011g0314	2	37	0.0541	27	c.68+ others(42): Show c.68+1882_68+1883insAAAAAAATATATATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0214 a0002c0005t0006g0214	1	36	0.0278	27	c.68+ others(42): Show c.68+1882_68+1883insAAAAAAAAATATATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03927.hp1 HG04228.hp1 others(3): Show HG01243.hp1 HG03927.hp1 HG04228.hp1 NA18939.hp2 NA18944.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0001 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0032 a0001c0001t0001g0189 a0001c0001t0001g0196 others(3): Show a0001c0001t0001g0032 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0004g0146 a0001c0001t0004g0165 a0001c0001t0018g0144	6	41	0.1463	27	c.68+ others(42): Show c.68+1882_68+1883insAAAAAAAAAAATATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02015.hp1 HG03831.hp2 HG01099.hp2 HG02015.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0129 a0001c0001t0008g0029 a0001c0001t0008g0147 a0001c0001t0004g0129 a0001c0001t0008g0029 a0001c0001t0008g0147	3	38	0.0789	27	c.68+ others(42): Show c.68+1882_68+1883insAAAAAAAAAAAAATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01257.hp1 NA18971.hp1 others(1): Show HG01169.hp1 HG01257.hp1 NA18971.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0024 a0001c0001t0004g0149 a0001c0001t0008g0141 others(1): Show a0001c0001t0001g0024 a0001c0001t0004g0149 a0001c0001t0008g0141 a0001c0001t0009g0171	4	39	0.1026	27	c.68+ others(42): Show c.68+1882_68+1883insAAAAAAAAAAAAAAATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0156 a0001c0001t0009g0156	1	36	0.0278	27	c.68+ others(42): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1L_chr2_1784113_2336275	2236757	T T	TTTCTTCT others(20): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	80	0.0125	27	c.-42 others(48): Show c.-421+47620_-421+47646dupGAAGAAGAAGAAGAAGAAGAAGAA GAA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYZAP_chr15_57586904_57690364	57616822	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02040.hp1 others(2): Show HG01070.hp1 HG01071.hp1 HG02040.hp1 HG02647.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0240 a0001c0001t0001g0280 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0240 a0001c0001t0001g0280 a0001c0001t0001g0286	5	96	0.0521	27	c.163 others(44): Show c.163-1186_163-1185insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57687411	A A	ATAGTGTG others(20): Show ATAGTGTGTACAATATACACATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	350	0.0029	27	c.29 others(38): Show c.2913_*2914insTAGTGTGTACAATATACACATATATAT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2048		chr15	TogoVar
N4BP2L2_chr13_32505292_32543795	32540970	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG02647.hp1 HG02809.hp1 others(2): Show HG01175.hp2 HG02647.hp1 HG02809.hp1 HG02895.hp1 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0009 a0002c0002t0010 others(1): Show a0001c0001t0004 a0002c0002t0009 a0002c0002t0010 a0002c0002t0013	a0001c0001t0004g0005 a0002c0002t0009g0278 a0002c0002t0010g0272 others(2): Show a0001c0001t0004g0005 a0002c0002t0009g0278 a0002c0002t0010g0272 a0002c0002t0010g0279 a0002c0002t0013g0271	5	107	0.0467	27	c.-23 others(38): Show c.-2354_-2353insAAAAAAAAAAAAAAAAAAAAAAAAAAA	N4BP2L2	ENSG00000244754.9	transcript	ENST00000267068.6	protein_coding		2176		chr13	TogoVar
NAALADL2_chr3_174854334_175815548	175698483	T T	TTTATATA others(20): Show TTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0021 a0001c0013t0006g0021	1	22	0.0455	27	c.189 others(48): Show c.1897-38822_1897-38821insTATATATATATATATATATATATA TAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAB1_chr2_190644083_190697766	190688792	C C	CTTCCTTC others(20): Show CTTCCTTCCTTTCTTTCCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0260 a0001c0001t0024g0260	1	367	0.0027	27	c.137 others(46): Show c.1376-1447_1376-1446insCCTTTCTTTCCTTTCTTTTCTTTCCT T	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NALF1_chr13_107158510_107872496	107252433	A A	AAGGAGAA others(20): Show AAGGAGAAAGAGAGGGACAGACACAGAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0123 a0002c0003t0003g0123	1	128	0.0078	27	c.916 others(46): Show c.916-41705_916-41679dupCTCTGTGTCTGTCCCTCTCTTTCTCC T	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107254062	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG03516.hp1 HG02280.hp2 HG02451.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0053 a0001c0001t0062 a0001c0002t0035 a0001c0001t0053 a0001c0001t0062 a0001c0002t0035	a0001c0001t0053g0066 a0001c0001t0062g0027 a0001c0002t0035g0020 a0001c0001t0053g0066 a0001c0001t0062g0027 a0001c0002t0035g0020	3	107	0.0280	27	c.916 others(46): Show c.916-43308_916-43307insATATATATATATATATATTTTTTTTT T	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107340475	T T	TTCTTTCT others(20): Show TTCTTTCTTTCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01358.hp1 HG03098.hp2 HG01109.hp2 HG01358.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0020 a0001c0001t0059 a0002c0003t0003 a0001c0001t0020 a0001c0001t0059 a0002c0003t0003	a0001c0001t0020g0015 a0001c0001t0059g0036 a0002c0003t0003g0123 a0001c0001t0020g0015 a0001c0001t0059g0036 a0002c0003t0003g0123	3	92	0.0326	27	c.916 others(48): Show c.916-129721_916-129720insGAGAAGAAAGAAAGAAAGAAAGAA AGA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107438827	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0049 a0001c0001t0014g0049	1	25	0.0400	27	c.916 others(48): Show c.916-228073_916-228072insTTTTTTTTTTTTTTTTTTTTTTTT TTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107586635	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG02976.hp2 HG00323.hp2 HG00741.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0029 a0001c0001t0091 a0001c0001t0023 a0001c0001t0029 a0001c0001t0091	a0001c0001t0023g0008 a0001c0001t0029g0006 a0001c0001t0091g0115 a0001c0001t0023g0008 a0001c0001t0029g0006 a0001c0001t0091g0115	3	4	0.7500	27	c.915 others(48): Show c.915+279046_915+279047insAAAAAAAAAAAAAAAAAAAAAAAA AAA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107818871	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp2 HG02647.hp1 HG01081.hp2 HG01884.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0090 a0001c0001t0096 a0001c0001t0088 a0001c0001t0090 a0001c0001t0096	a0001c0001t0088g0090 a0001c0001t0090g0089 a0001c0001t0096g0128 a0001c0001t0088g0090 a0001c0001t0090g0089 a0001c0001t0096g0128	3	19	0.1579	27	c.915 others(46): Show c.915+46810_915+46811insTTTTTTTTTTTTTTTTTTTTTTTTTT T	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NANOGNB_chr12_7760216_7779121	7765569	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	318	0.0031	27	c.102 others(42): Show c.102+202_102+203insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NANOGNB	ENSG00000205857.2	transcript	ENST00000382119.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NARS2_chr11_78430968_78579864	78538994	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	59	0.0169	27	c.595 others(46): Show c.595-10085_595-10059dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	5/13			chr11	TogoVar
NAT8L_chr4_2054327_2074089	2059376	T T	TGCCGCCG others(20): Show TGCCGCCGCCGCCGCCGCCGCTGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0026 a0002c0003t0026	a0002c0003t0026g0004 a0002c0003t0026g0004	1	376	0.0027	27	c.-11 others(35): Show c.-118_-92dupCGCTGCCGCCGCCGCCGCCGCCGCCGC	NAT8L	ENSG00000185818.8	transcript	ENST00000423729.3	protein_coding	1/3	91	INFO_REALIGN_3_PRIME	chr4	TogoVar
NATD1_chr17_21233870_21258410	21235935	C C	CATGCATC others(20): Show CATGCATCCACTCACCCATCCACCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	420	0.0024	27	c.73 others(38): Show c.7377_*7378insTGTGGGTGGATGGGTGAGTGGATGCAT	NATD1	ENSG00000274180.1	transcript	ENST00000611551.1	protein_coding		2934		chr17	TogoVar
NAV1_chr1_201534127_201831969	201734499	G G	GAGAAGAA others(20): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG04204.hp1 others(1): Show HG02145.hp2 HG02572.hp2 HG04204.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0010 a0001c0001t0018 a0001c0001t0034 others(1): Show a0001c0001t0010 a0001c0001t0018 a0001c0001t0034 a0001c0021t0005	a0001c0001t0010g0006 a0001c0001t0018g0103 a0001c0001t0034g0106 others(1): Show a0001c0001t0010g0006 a0001c0001t0018g0103 a0001c0001t0034g0106 a0001c0021t0005g0007	4	19	0.2105	27	c.208 others(48): Show c.2087+15751_2087+15777dupAGAAGAAGAAGAAGAAGAAGAAGA AGA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201802136	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19085.hp2 NA19005.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0002c0002t0012 a0001c0001t0012 a0002c0002t0012	a0001c0001t0012g0031 a0002c0002t0012g0014 a0001c0001t0012g0031 a0002c0002t0012g0014	2	128	0.0156	27	c.437 others(46): Show c.4379-1438_4379-1437insAAAAAAAAAAAAAAAAAAAAAAAAAA A	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	19/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19877470	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTCTTTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0131 a0004c0005t0005g0131	1	131	0.0076	27	c.512 others(44): Show c.512-2386_512-2385insCTTTTTTCTTTTCTTTTTTTTTTTTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV3_chr12_77825894_78218010	78091795	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02630.hp1 HG02809.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0016 a0001c0016t0016	a0001c0016t0016g0011 a0001c0016t0016g0147 a0001c0016t0016g0011 a0001c0016t0016g0147	2	3	0.6667	27	c.263 others(48): Show c.2637-24959_2637-24958insAAAAAAAAAAAAAAAAAAAAAAAA AAA	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NBDY_chrX_56724243_56824179	56726148	T T	TATAACAA others(20): Show TATAACAATATATGTATTGTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	158	0.0063	27	c.-32 others(38): Show c.-3206_-3205insATAACAATATATGTATTGTTATATATA	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding		3094		chrX	TogoVar
NBEAL1_chr2_203009875_203230194	203119424	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0242 a0001c0007t0001g0242	1	31	0.0323	27	c.259 others(46): Show c.2593-2810_2593-2809insTTTTTTTTTTTTTTTTTTTTTTTTTT T	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	18/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEA_chr13_34937270_35677736	34968894	G G	GTTAATAT others(20): Show GTTAATATCAATTGATTATTAATGTGTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01891.hp1 HG02055.hp2 others(13): Show HG00597.hp1 HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp1 HG02486.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03579.hp2 HG04184.hp1 HG04204.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0003 a0001c0005 a0002c0022 others(4): Show a0001c0003 a0001c0005 a0002c0022 a0003c0026 a0004c0008 a0005c0023 a0008c0024	a0001c0003t0001 a0001c0003t0008 a0001c0003t0018 others(7): Show a0001c0003t0001 a0001c0003t0008 a0001c0003t0018 a0001c0005t0004 a0001c0005t0016 a0002c0022t0004 a0003c0026t0001 a0004c0008t0001 a0005c0023t0004 a0008c0024t0004	a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0008g0007 others(13): Show a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0008g0007 a0001c0003t0008g0008 a0001c0003t0018g0006 a0001c0005t0004g0010 a0001c0005t0004g0012 a0001c0005t0004g0013 a0001c0005t0004g0014 a0001c0005t0016g0015 a0002c0022t0004g0017 a0003c0026t0001g0119 a0004c0008t0001g0121 a0004c0008t0001g0122 a0005c0023t0004g0016 a0008c0024t0004g0011	16	120	0.1333	27	c.294 others(46): Show c.294+25795_294+25821dupTTATTAATGTGTTTTAATATCAATTG A	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBPF11_chr1_148097151_148157281	148129105	A A	ATATATAT others(20): Show ATATATATACACGTGTATATGTATTATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00597.hp1 others(91): Show HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02293.hp1 HG02622.hp2 HG02683.hp2 HG02886.hp2 HG03710.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18963.hp2 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0002 a0008 a0019 others(4): Show a0002 a0008 a0019 a0021 a0023 a0025 a0026	a0002c0002 a0002c0023 a0002c0041 others(6): Show a0002c0002 a0002c0023 a0002c0041 a0008c0008 a0019c0022 a0021c0037 a0023c0039 a0025c0038 a0026c0040	a0002c0002t0002 a0002c0002t0014 a0002c0002t0018 others(11): Show a0002c0002t0002 a0002c0002t0014 a0002c0002t0018 a0002c0002t0040 a0002c0002t0041 a0002c0002t0042 a0002c0023t0002 a0002c0041t0002 a0008c0008t0002 a0019c0022t0002 a0021c0037t0002 a0023c0039t0017 a0025c0038t0002 a0026c0040t0017	a0002c0002t0002g0001 a0002c0002t0002g0021 a0002c0002t0002g0022 others(83): Show a0002c0002t0002g0001 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0293 a0002c0002t0002g0294 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0305 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0328 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0002g0333 a0002c0002t0002g0334 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0347 a0002c0002t0002g0349 a0002c0002t0002g0350 a0002c0002t0002g0351 a0002c0002t0002g0353 a0002c0002t0002g0356 a0002c0002t0002g0357 a0002c0002t0002g0358 a0002c0002t0014g0287 a0002c0002t0014g0288 a0002c0002t0014g0289 a0002c0002t0018g0295 a0002c0002t0018g0296 a0002c0002t0040g0283 a0002c0002t0041g0316 a0002c0002t0042g0309 a0002c0023t0002g0300 a0002c0023t0002g0327 a0002c0041t0002g0352 a0008c0008t0002g0299 a0008c0008t0002g0301 a0008c0008t0002g0304 a0008c0008t0002g0317 a0008c0008t0002g0318 a0008c0008t0002g0329 a0008c0008t0002g0355 a0019c0022t0002g0342 a0019c0022t0002g0348 a0021c0037t0002g0306 a0023c0039t0017g0270 a0025c0038t0002g0292 a0026c0040t0017g0271	94	386	0.2435	27	c.-35 others(44): Show c.-35-2094_-35-2068dupAATAATACATATACACGTGTATATATA	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	4/23			chr1	TogoVar
NBPF11_chr1_148097151_148157281	148129125	G G	GTATTATT others(20): Show GTATTATTTATATATACACATGTATATA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	386	0.0026	27	c.-35 others(44): Show c.-35-2114_-35-2088dupTATATACATGTGTATATATAAATAATA	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	4/23			chr1	TogoVar
NBPF15_chr1_144416390_144466669	144442164	A A	ATATATAT others(20): Show ATATATATATATAATATATATACACGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01258.hp1 others(10): Show HG00741.hp2 HG01109.hp1 HG01258.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp1 HG02523.hp1 NA18612.hp2 NA18747.hp2 NA18962.hp1 NA18970.hp2 NA19011.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0029 a0001c0001 a0001c0002 a0001c0029	a0001c0001t0001 a0001c0001t0024 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0024 a0001c0002t0001 a0001c0029t0001	a0001c0001t0001g0009 a0001c0001t0001g0086 a0001c0001t0001g0095 others(9): Show a0001c0001t0001g0009 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0203 a0001c0001t0024g0069 a0001c0002t0001g0270 a0001c0029t0001g0052	13	392	0.0332	27	c.-19 others(46): Show c.-190-1870_-190-1869insCACGTGTATATATATTATATATATAT A	NBPF15	ENSG00000266338.7	transcript	ENST00000581897.7	protein_coding	6/21			chr1	TogoVar
NBPF15_chr1_144416390_144466669	144442268	A A	AATATATA others(20): Show AATATATATACACGTGTATATATTATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp2 HG02965.hp2 others(1): Show HG01884.hp1 HG02886.hp2 HG02965.hp2 NA18522.hp2	a0006 a0007 a0006 a0007	a0006c0031 a0007c0008 a0006c0031 a0007c0008	a0006c0031t0004 a0007c0008t0004 a0007c0008t0014 a0006c0031t0004 a0007c0008t0004 a0007c0008t0014	a0006c0031t0004g0028 a0007c0008t0004g0029 a0007c0008t0004g0030 others(1): Show a0006c0031t0004g0028 a0007c0008t0004g0029 a0007c0008t0004g0030 a0007c0008t0014g0026	4	392	0.0102	27	c.-19 others(46): Show c.-190-2000_-190-1974dupATATAATATATACACGTGTATATATA T	NBPF15	ENSG00000266338.7	transcript	ENST00000581897.7	protein_coding	6/21			chr1	TogoVar
NBPF15_chr1_144416390_144466669	144463598	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02602.hp1 HG02602.hp2 others(6): Show HG00673.hp2 HG02602.hp1 HG02602.hp2 HG02976.hp1 HG03239.hp2 HG03492.hp2 HG03831.hp1 HG04199.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0072 others(5): Show a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0072 a0001c0002t0001g0134 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0198 a0001c0002t0001g0341	9	176	0.0511	27	c.-31 others(38): Show c.-3156_-3155insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NBPF15	ENSG00000266338.7	transcript	ENST00000581897.7	protein_coding		1930		chr1	TogoVar
NBPF8_chr1_120410035_120474676	120457732	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0057 a0008c0010t0057	a0008c0010t0057g0078 a0008c0010t0057g0078	1	99	0.0101	27	c.163 others(46): Show c.1638-1635_1638-1634insTATATATATATATATATATATATATA T	NBPF8	ENSG00000270231.5	transcript	ENST00000698216.1	protein_coding	14/22			chr1	TogoVar
NBPF8_chr1_120410035_120474676	120457736	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0061 a0008c0010t0061	a0008c0010t0061g0079 a0008c0010t0061g0079	1	36	0.0278	27	c.163 others(46): Show c.1638-1631_1638-1630insTATATATATATATATATATATATATA T	NBPF8	ENSG00000270231.5	transcript	ENST00000698216.1	protein_coding	14/22			chr1	TogoVar
NCAM2_chr21_20993409_21548329	21125350	G G	GATAATAT others(20): Show GATAATATTTTACATATATATGTAATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG02970.hp2 others(4): Show HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03486.hp1 HG03540.hp1 HG06807.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0003c0006	a0001c0001t0002 a0001c0004t0036 a0002c0003t0004 others(4): Show a0001c0001t0002 a0001c0004t0036 a0002c0003t0004 a0002c0003t0008 a0002c0003t0013 a0002c0003t0023 a0003c0006t0005	a0001c0001t0002g0116 a0001c0004t0036g0071 a0002c0003t0004g0130 others(4): Show a0001c0001t0002g0116 a0001c0004t0036g0071 a0002c0003t0004g0130 a0002c0003t0008g0009 a0002c0003t0013g0118 a0002c0003t0023g0060 a0003c0006t0005g0065	7	126	0.0556	27	c.55+ others(46): Show c.55+126778_55+126804dupATGTAATATATAATATTTTACATATA T	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21125353	A A	AATATTTT others(20): Show AATATTTTACATATATATGTAATATATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01346.hp2 HG01934.hp2 others(4): Show HG00733.hp2 HG01346.hp2 HG01934.hp2 HG02523.hp1 HG03139.hp2 HG03239.hp2 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007	a0001c0001t0001g0037 a0001c0001t0001g0095 a0001c0001t0006g0067 others(4): Show a0001c0001t0001g0037 a0001c0001t0001g0095 a0001c0001t0006g0067 a0001c0004t0001g0101 a0002c0002t0001g0036 a0002c0002t0003g0081 a0002c0002t0007g0051	7	132	0.0530	27	c.55+ others(46): Show c.55+126761_55+126762insTATATTTTACATATATATGTAATATA T	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21125412	T T	TTTACATA others(20): Show TTTACATATATATGTAATATATAATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01243.hp2 others(17): Show HG00558.hp2 HG00639.hp1 HG01243.hp2 HG01361.hp1 HG02280.hp1 HG02647.hp1 HG02647.hp2 HG02976.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18992.hp1 NA18992.hp2 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0012 others(4): Show a0001c0001 a0001c0004 a0001c0012 a0002c0002 a0002c0003 a0002c0008 a0004c0013	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(16): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0021 a0001c0004t0002 a0001c0012t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0015 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0017 a0002c0008t0015 a0004c0013t0002	a0001c0001t0003g0099 a0001c0001t0003g0120 a0001c0001t0004g0026 others(17): Show a0001c0001t0003g0099 a0001c0001t0003g0120 a0001c0001t0004g0026 a0001c0001t0005g0076 a0001c0001t0010g0056 a0001c0001t0014g0033 a0001c0001t0021g0110 a0001c0004t0002g0058 a0001c0012t0009g0121 a0002c0002t0001g0080 a0002c0002t0002g0075 a0002c0002t0003g0100 a0002c0002t0008g0098 a0002c0002t0015g0054 a0002c0003t0003g0062 a0002c0003t0006g0031 a0002c0003t0012g0028 a0002c0003t0017g0091 a0002c0008t0015g0129 a0004c0013t0002g0014	20	36	0.5556	27	c.55+ others(46): Show c.55+126804_55+126805insATGTAATATATAATATATTACATATA T	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21146925	T T	TACCGCTG others(20): Show TACCGCTGCCTTCTACTCCGGAACTCAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0028 a0002c0003t0012g0028	1	131	0.0076	27	c.56- others(46): Show c.56-133607_56-133581dupGGAACTCAGACCGCTGCCTTCTACTC C	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21214722	C C	CATATATA others(20): Show CATATATATATATATATATATTCCATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG03209.hp1 others(3): Show HG02280.hp1 HG02572.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0003c0006 a0001c0004 a0002c0002 a0003c0006	a0001c0004t0002 a0002c0002t0004 a0002c0002t0014 others(3): Show a0001c0004t0002 a0002c0002t0004 a0002c0002t0014 a0002c0002t0034 a0003c0006t0005 a0003c0006t0018	a0001c0004t0002g0058 a0002c0002t0004g0073 a0002c0002t0014g0119 others(3): Show a0001c0004t0002g0058 a0002c0002t0004g0073 a0002c0002t0014g0119 a0002c0002t0034g0059 a0003c0006t0005g0065 a0003c0006t0018g0016	6	109	0.0550	27	c.56- others(44): Show c.56-65836_56-65835insTCCATATATATATATATATATATATAT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21479583	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	69	0.0145	27	c.207 others(46): Show c.2077+2137_2077+2138insAAAAAAAAAAAAAAAAAAAAAAAAAA A	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr21	TogoVar

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