Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC12A7_chr5_1045384_1117063	1070575	GAGCCCCC others(146): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGG CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01255.hp1 HG01993.hp2 others(1): Show HG00733.hp1 HG01255.hp1 HG01993.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0094 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0094 a0002c0004t0001g0041	4	118	0.0339	-153	c.224 others(19): Show c.2241+2905_2241+3057del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071420	GAGCCCCC others(146): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03710.hp1 HG02698.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0001 a0002c0011t0002 a0001c0001t0001 a0002c0011t0002	a0001c0001t0001g0112 a0002c0011t0002g0030 a0001c0001t0001g0112 a0002c0011t0002g0030	2	118	0.0170	-153	c.224 others(19): Show c.2241+2060_2241+2212del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC2A3_chr12_7914230_7941187	7920037	CATAGGAC others(146): Show CATAGGACCACAGTGACATGGTAACAGACATACGCAAGCGTGCCGTGAGC CTAAAGCAACAACACACTTTAGATAATAATCGCTCAGAAAAAAATCCTCT CCCAGAGCTGAGGTTACAAATTCCAAGTTTGCTATAAACATTCTTTGGGG AATT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0196 a0001c0001t0029g0196	1	420	0.0024	-153	c.12 others(11): Show c.1223_*1375del	SLC2A3	ENSG00000059804.17	transcript	ENST00000075120.12	protein_coding	10/10	1223		chr12	TogoVar
SLC37A1_chr21_42508852_42586426	42570129	ATGTGACA others(146): Show ATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCATTGC CATGTGACACATGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTG CCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGG CCGT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0128 a0001c0001t0007g0128	1	356	0.0028	-153	c.142 others(19): Show c.1423+1695_1423+1847del	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC66A2_chr18_79897420_79956653	79920947	GTCAGTGA others(146): Show GTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTC AAGC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0237 a0001c0001t0006g0237	1	352	0.0028	-153	c.392 others(17): Show c.392-1700_392-1548del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921449	GAGGAGAG others(146): Show GAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGA GAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCT CAGT	G G	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0126	1	352	0.0028	-153	c.392 others(17): Show c.392-2202_392-2050del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC9A3_chr5_465456_529449	481883	CCCCCCCC others(146): Show CCCCCCCCCGCCCCCCAGCCCCGCACGTATGGCGGCCTCCTCTCCCCTCC TGGCCCAGCCCCAAGGAACACACGGTGCCCTCCGCCACCCCCCAAGCCCC AGACCAACGCAGCCTCCTCTCCCCTCTCAGCCCAGCCCCGAGGAACACGC AGTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02145.hp2 others(8): Show HG01891.hp2 HG02109.hp1 HG02145.hp2 HG02615.hp1 HG02622.hp2 HG02818.hp2 HG03209.hp1 HG03486.hp2 HG03540.hp2 NA18906.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0014 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0017 a0001c0001t0027 a0001c0001t0030 a0001c0008t0018	a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0104 others(8): Show a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0014g0060 a0001c0001t0014g0061 a0001c0001t0017g0003 a0001c0001t0027g0144 a0001c0001t0030g0169 a0001c0008t0018g0124	11	218	0.0505	-153	c.144 others(16): Show c.1446+32_1446+184del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	8/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	492147	GGGAGGGA others(146): Show GGGAGGGAGGTGTGGGGACTCGTGGGGGAGGGGAGGGATGTCGGGGCAGG GCCTGTTGGGGAGGGAGGTCAGCGGGGACTCGTGGAGGAAGGGAGGAAGG TGTGGGGACTCACAGGGGAGGGGAGGGAGGTCGGGGTGGGACCCGTGCGG CAGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp2 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0060 a0001c0001t0014g0061 a0001c0001t0014g0060 a0001c0001t0014g0061	2	218	0.0092	-153	c.212 others(14): Show c.212-229_212-77del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SNTG2_chr2_945849_1372613	1106845	AGAGTGGT others(146): Show AGAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGG TAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTT GGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCC TTGG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0147 a0010c0012t0001g0147	1	190	0.0053	-153	c.325 others(17): Show c.325+8436_325+8588del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16			chr2	TogoVar
SPTSSA_chr14_34427788_34467240	34443353	TGAGTGTG others(146): Show TGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGA TGGAGTTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGC TCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGG GAGG	T T	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	344	0.0029	-153	c.113 others(17): Show c.113-8202_113-8050del	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
STK38L_chr12_27239286_27330959	27241163	ATATATAT others(146): Show ATATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGA CTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATA TTACATATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTA TAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02809.hp1 NA18991.hp1 HG02735.hp2 HG02809.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0003t0002 a0001c0001t0002 a0001c0001t0006 a0001c0003t0002	a0001c0001t0002g0196 a0001c0001t0006g0040 a0001c0003t0002g0120 a0001c0001t0002g0196 a0001c0001t0006g0040 a0001c0003t0002g0120	3	374	0.0080	-153	c.-31 others(11): Show c.-3180_-3028del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3122		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241409	ATATATAT others(146): Show ATATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGA CTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATA TTACATATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTA TAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01106.hp1 HG01361.hp1 others(7): Show HG01069.hp1 HG01106.hp1 HG01361.hp1 HG01517.hp2 HG01981.hp2 HG02683.hp1 HG03942.hp1 NA18971.hp1 NA18995.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 others(7): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0310 a0001c0001t0002g0039 a0001c0001t0004g0309 a0001c0001t0017g0276	10	374	0.0267	-153	c.-29 others(11): Show c.-2934_-2782del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2876		chr12	TogoVar
SYTL3_chr6_158645054_158769871	158705012	GGGCAGGG others(146): Show GGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCC GGGGCAGGGTGACAGTGAGGGCTATAAGGCCACATAGGGCAGGAGGGACC TGGGGACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGA CCCA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01891.hp1 HG03225.hp1 HG01175.hp1 HG01891.hp1 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0051 a0003c0004t0001g0049 a0003c0004t0001g0132 a0001c0001t0001g0051 a0003c0004t0001g0049 a0003c0004t0001g0132	3	292	0.0103	-153	c.395 others(17): Show c.395-2215_395-2063del	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TCAF1_chr7_143846375_143907176	143859878	TACATATA others(146): Show TACATATATATAATATATATTATATAATATATATTACGGAATATATATTA TATAATATATATTATATAATATATATTACGGAATATATATTATATAATAT ATATTATATAATATATATTATATAATATATATATAATATATATTATATAT TATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(74): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00741.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp2 HG01952.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02615.hp2 HG02647.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03688.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18951.hp1 NA18953.hp1 NA18960.hp1 NA18961.hp1 NA18968.hp1 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19057.hp1 NA19064.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0008 a0002c0015	a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 others(24): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0017 a0001c0002t0019 a0001c0002t0021 a0001c0002t0024 a0001c0002t0039 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0010 a0001c0003t0013 a0001c0003t0015 a0001c0003t0017 a0001c0003t0020 a0002c0008t0006 a0002c0008t0014 a0002c0015t0006	a0001c0001t0001g0210 a0001c0002t0002g0010 a0001c0002t0002g0013 others(72): Show a0001c0001t0001g0210 a0001c0002t0002g0010 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0006g0070 a0001c0002t0006g0095 a0001c0002t0006g0097 a0001c0002t0006g0098 a0001c0002t0006g0115 a0001c0002t0006g0116 a0001c0002t0006g0119 a0001c0002t0007g0193 a0001c0002t0008g0066 a0001c0002t0008g0123 a0001c0002t0009g0135 a0001c0002t0010g0002 a0001c0002t0010g0022 a0001c0002t0010g0039 a0001c0002t0013g0003 a0001c0002t0013g0117 a0001c0002t0014g0152 a0001c0002t0015g0109 a0001c0002t0017g0076 a0001c0002t0019g0132 a0001c0002t0019g0164 a0001c0002t0021g0176 a0001c0002t0021g0196 a0001c0002t0024g0083 a0001c0002t0039g0245 a0001c0003t0002g0012 a0001c0003t0002g0018 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0036 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0006g0100 a0001c0003t0006g0102 a0001c0003t0006g0104 a0001c0003t0007g0177 a0001c0003t0007g0180 a0001c0003t0007g0184 a0001c0003t0007g0198 a0001c0003t0007g0205 a0001c0003t0007g0208 a0001c0003t0007g0242 a0001c0003t0008g0065 a0001c0003t0008g0067 a0001c0003t0008g0124 a0001c0003t0010g0020 a0001c0003t0010g0040 a0001c0003t0013g0099 a0001c0003t0015g0108 a0001c0003t0017g0063 a0001c0003t0020g0129 a0001c0003t0020g0168 a0002c0008t0006g0096 a0002c0008t0014g0169 a0002c0015t0006g0101	77	256	0.3008	-153	c.216 others(17): Show c.2167+177_2167+329del	TCAF1	ENSG00000198420.10	transcript	ENST00000479870.6	protein_coding	6/8			chr7	TogoVar
TET1_chr10_68555337_68699487	68616236	CTCATTAT others(146): Show CTCATTATGCATTGCATTCAGTTGCTATATCTCTTTAGTCTTTCAATCTG ATATTTTCCAAGCGTACAGGTCAGCTATTTTTGAAGAATTTCCCTCAAAT TGAGTTTTGCATTTGCTGATGATTACATTCAAGTTATGCATTTTCACAAG AGTA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0073	1	282	0.0036	-153	c.196 others(21): Show c.1968+15206_1968+15358del	TET1	ENSG00000138336.9	transcript	ENST00000373644.5	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
THEG_chr19_356747_381026	376947	CCCCCGTG others(146): Show CCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 NA18612.hp2 HG00280.hp2 NA18612.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0002 a0008c0008t0004 a0001c0001t0002 a0008c0008t0004	a0001c0001t0002g0087 a0008c0008t0004g0201 a0001c0001t0002g0087 a0008c0008t0004g0201	2	370	0.0054	-153	c.-11 others(10): Show c.-1130_-978del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		922		chr19	TogoVar
TMEM120A_chr7_75981831_75999595	75988727	GGGCTGGA others(146): Show GGGCTGGAGGGGAAGGCCAGGTGGGGGGCTGGAGGGGAAGAAGGCCGGGT GGGGGGCTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGA GGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGT GGGT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	368	0.0027	-153	c.377 others(15): Show c.377+285_378-212del	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TNK2_chr3_195858364_195913551	195880924	CCCCCCCA others(146): Show CCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGTAACA CCCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAA CACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCT AACA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03490.hp1 HG02976.hp1 HG03490.hp1	a0001 a0003 a0001 a0003	a0001c0050 a0003c0005 a0001c0050 a0003c0005	a0001c0050t0001 a0003c0005t0001 a0001c0050t0001 a0003c0005t0001	a0001c0050t0001g0213 a0003c0005t0001g0059 a0001c0050t0001g0213 a0003c0005t0001g0059	2	372	0.0054	-153	c.887 others(16): Show c.887+974_887+1126del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TYMS_chr18_652653_678578	667418	TGATGGTG others(146): Show TGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGATGGAGATG GTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGT GATGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGA TGGA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0195 a0001c0001t0009g0195	1	482	0.0021	-153	c.455 others(17): Show c.455-1642_455-1490del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UMAD1_chr7_7635752_7884223	7637575	AACTGTTT others(146): Show AACTGTTTTCCTGTATGTTTATGTTATGTAATTGTATGTAATACATACAA TTTTGTATGTAATACAAAATGTATGTTAAAACATAGTTATATAAAACTGT ATGTTATGTAATTACATACAGTTATATAAAACTGTATGTTATGTAATTAC ATAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0203 a0001c0001t0033g0203	1	250	0.0040	-153	c.-33 others(11): Show c.-3309_-3157del	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding		3176		chr7	TogoVar
UNC13B_chr9_35157009_35410335	35372677	GCCCCTGT others(146): Show GCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTA ACTCTCTGGGCTTGGCAGATACATGGGCCCCTGTGCAAGAGTGTGGCTAG CAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATACAT GGGG	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0036 a0004c0036	a0004c0036t0006 a0004c0036t0006	a0004c0036t0006g0006 a0004c0036t0006g0006	1	224	0.0045	-153	c.954 others(19): Show c.9540+2285_9541-2294del	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35373439	GCCCTGTG others(146): Show GCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAA CTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGC AAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATG GGGC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01891.hp1 HG02486.hp1 others(13): Show HG01074.hp1 HG01891.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA20129.hp2	a0005 a0007 a0026 a0005 a0007 a0026	a0005c0006 a0007c0009 a0007c0025 others(1): Show a0005c0006 a0007c0009 a0007c0025 a0026c0041	a0005c0006t0001 a0007c0009t0001 a0007c0025t0001 others(1): Show a0005c0006t0001 a0007c0009t0001 a0007c0025t0001 a0026c0041t0001	a0005c0006t0001g0156 a0005c0006t0001g0158 a0005c0006t0001g0186 others(13): Show a0005c0006t0001g0156 a0005c0006t0001g0158 a0005c0006t0001g0186 a0005c0006t0001g0194 a0005c0006t0001g0196 a0005c0006t0001g0201 a0005c0006t0001g0202 a0005c0006t0001g0209 a0005c0006t0001g0210 a0005c0006t0001g0211 a0005c0006t0001g0217 a0007c0009t0001g0188 a0007c0009t0001g0189 a0007c0009t0001g0191 a0007c0025t0001g0190 a0026c0041t0001g0200	16	224	0.0714	-153	c.954 others(19): Show c.9541-1455_9541-1303del	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
VIPR2_chr7_159023175_159149867	159077258	CTAGCCCT others(146): Show CTAGCCCTGTTCAATGTCTTTGAGGTACTACAGTGTGCCTGTTATCAGAT TCTAGCCCTGTTCAATGTCTTTGAGGTATTATAGTGTACCTGTTATCAGA TTCTAGCCCTGTTCAATGTCTTTGAGGTACTACAGTGTGCCTGTTATCAG ATTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01952.hp1 others(10): Show HG01257.hp1 HG01258.hp1 HG01952.hp1 HG02630.hp1 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03225.hp1 HG03540.hp1 HG06807.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0001c0006 a0001c0009 others(3): Show a0001c0005 a0001c0006 a0001c0009 a0001c0016 a0001c0019 a0003c0017	a0001c0005t0008 a0001c0005t0013 a0001c0006t0012 others(4): Show a0001c0005t0008 a0001c0005t0013 a0001c0006t0012 a0001c0009t0007 a0001c0016t0002 a0001c0019t0007 a0003c0017t0006	a0001c0005t0008g0006 a0001c0005t0008g0312 a0001c0005t0008g0313 others(9): Show a0001c0005t0008g0006 a0001c0005t0008g0312 a0001c0005t0008g0313 a0001c0005t0008g0314 a0001c0005t0013g0153 a0001c0006t0012g0145 a0001c0006t0012g0147 a0001c0006t0012g0148 a0001c0009t0007g0152 a0001c0016t0002g0146 a0001c0019t0007g0069 a0003c0017t0006g0003	13	336	0.0387	-153	c.358 others(19): Show c.358-18833_358-18681del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
WDR70_chr5_37374318_37758435	37415387	CGGGGCGG others(146): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCCGGGGGCTGATCCCCCCACCTCCCTCCCGGAAG GGGCGGCTGGGGGTGGGGGGGGCCTGACCCCCCCACCTCACCTCCCTCCC GGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(83): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01192.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02559.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02922.hp1 HG03017.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18960.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19010.hp1 NA19054.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19090.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0004g0005 a0001c0002t0001g0178	86	242	0.3554	-153	c.492 others(19): Show c.492+18835_492+18987del	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WRAP73_chr1_3625770_3655103	3643577	AATGGGGT others(146): Show AATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCCGG ACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCCG GACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCC GGAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(119): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG02040.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19080.hp1 NA19084.hp2 NA19087.hp1 NA19091.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0009 a0007c0010 a0001c0001 a0005c0009 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0005c0009t0002 a0007c0010t0002	a0001c0001t0001g0030 a0001c0001t0001g0078 a0001c0001t0001g0079 others(46): Show a0001c0001t0001g0030 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0022 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0004g0044 a0001c0001t0009g0148 a0001c0001t0011g0150 a0005c0009t0002g0041 a0007c0010t0002g0161	122	382	0.3194	-153	c.339 others(17): Show c.339+2936_339+3088del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
XXYLT1_chr3_195063284_195276159	195272794	AAAAAGTA others(146): Show AAAAAGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCGAGA GGCTGAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGTGAG CCGAGATCATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAAACCCTG TCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0023 a0002c0002t0004g0023	1	198	0.0051	-153	c.-18 others(11): Show c.-1889_-1737del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding		1636		chr3	TogoVar
ZFPM1_chr16_88448280_88542031	88501138	ATCCCGCA others(146): Show ATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGC CCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCATGGG CTCTCCCGCAGGTACTGGTGATGATGGAGATAGTGGGCCTGGGTGCGGGG GCCC	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02135.hp1 NA18947.hp1 HG01517.hp2 HG02135.hp1 NA18947.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0008 a0003c0003 a0002c0002 a0002c0008 a0003c0003	a0002c0002t0001 a0002c0008t0039 a0003c0003t0073 a0002c0002t0001 a0002c0008t0039 a0003c0003t0073	a0002c0002t0001g0012 a0002c0008t0039g0014 a0003c0003t0073g0285 a0002c0002t0001g0012 a0002c0008t0039g0014 a0003c0003t0073g0285	3	318	0.0094	-153	c.268 others(19): Show c.268+12033_268+12185del	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF516_chr18_76352682_76500242	76394571	GTGGTCAG others(146): Show GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0190 a0001c0005t0190	a0001c0005t0190g0122 a0001c0005t0190g0122	1	346	0.0029	-153	c.181 others(21): Show c.1811-14421_1811-14269del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF780A_chr19_40068045_40095943	40086494	TGAACACA others(146): Show TGAACACAATGCAGATAAGTGGCATTTGCAAACTATGTGAGAAAATTTGT GAAATATACACCACCATGCTTGGTTCCCTTCTTCACCAAATAACCAATTA AAATATTATTTTAGATATAATTCTTATAGAATGCCTTCAGATAGAATTCT TATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0072 a0001c0004t0017g0072	1	316	0.0032	-153	c.-45 others(17): Show c.-45-1849_-45-1697del	ZNF780A	ENSG00000197782.15	transcript	ENST00000683561.1	protein_coding	2/5			chr19	TogoVar
ACAP2_chr3_195269745_195448020	195272795	AAAAGTAG others(145): Show AAAAGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCGAGAG GCTGAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGTGAGC CGAGATCATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAAACCCTGT CTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0096 a0001c0001t0006g0096	1	324	0.0031	-152	c.63 others(11): Show c.6381_*6532del	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding		1949		chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288554	TGTCTCTG others(145): Show TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCC CGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	-152	c.48 others(11): Show c.4858_*5009del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3836		chr1	TogoVar
ANKRD11_chr16_89262630_89495561	89400411	ACGGTCAT others(145): Show ACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGC	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0027 a0027	a0027c0043 a0027c0043	a0027c0043t0001 a0027c0043t0001	a0027c0043t0001g0178 a0027c0043t0001g0178	1	310	0.0032	-152	c.-60 others(19): Show c.-60+17721_-60+17872del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400488	CGGTCATC others(145): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00639.hp1 others(37): Show HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp2 HG01358.hp1 HG01515.hp1 HG01884.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02451.hp2 HG02622.hp1 HG02970.hp1 HG03041.hp2 HG03704.hp2 HG03942.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18969.hp1 NA18977.hp2 NA18979.hp1 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19067.hp2 NA19080.hp2 NA19083.hp2 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0022 a0023	a0001c0001 a0001c0007 a0002c0002 others(5): Show a0001c0001 a0001c0007 a0002c0002 a0003c0025 a0005c0005 a0006c0010 a0022c0039 a0023c0030	a0001c0001t0001 a0001c0001t0006 a0001c0007t0001 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0007t0001 a0002c0002t0002 a0002c0002t0008 a0003c0025t0001 a0005c0005t0001 a0006c0010t0001 a0022c0039t0007 a0023c0030t0001	a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0042 others(37): Show a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0006g0248 a0001c0007t0001g0235 a0002c0002t0002g0112 a0002c0002t0002g0153 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0215 a0002c0002t0002g0222 a0002c0002t0002g0227 a0002c0002t0002g0230 a0002c0002t0002g0233 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0280 a0002c0002t0008g0172 a0003c0025t0001g0179 a0005c0005t0001g0174 a0006c0010t0001g0189 a0022c0039t0007g0268 a0023c0030t0001g0090	40	310	0.1290	-152	c.-60 others(19): Show c.-60+17644_-60+17795del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400525	ATGGTCAT others(145): Show ATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00741.hp2 others(21): Show HG00099.hp1 HG00140.hp1 HG00741.hp2 HG01071.hp2 HG01123.hp1 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01952.hp2 HG02135.hp1 HG02486.hp2 HG02572.hp2 HG02683.hp1 HG03017.hp1 HG03239.hp1 HG03540.hp2 HG04199.hp1 NA18950.hp2 NA18964.hp1 NA18980.hp1 NA19009.hp1 NA19063.hp1 NA19085.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0055 a0002c0002 others(4): Show a0001c0001 a0001c0055 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0055t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0055t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0007c0012t0001	a0001c0001t0001g0049 a0001c0001t0001g0145 a0001c0001t0001g0155 others(21): Show a0001c0001t0001g0049 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0221 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0002g0223 a0001c0055t0001g0097 a0002c0002t0002g0192 a0002c0002t0002g0245 a0003c0003t0001g0109 a0003c0003t0001g0140 a0003c0003t0001g0164 a0003c0003t0001g0170 a0003c0003t0001g0171 a0004c0004t0001g0211 a0005c0005t0001g0142 a0007c0012t0001g0158 a0007c0012t0001g0161	24	310	0.0774	-152	c.-60 others(19): Show c.-60+17607_-60+17758del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400526	TGGTCATC others(145): Show TGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GCC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG04115.hp1 HG01515.hp2 HG04115.hp1	a0004 a0014 a0004 a0014	a0004c0004 a0014c0058 a0004c0004 a0014c0058	a0004c0004t0001 a0014c0058t0001 a0004c0004t0001 a0014c0058t0001	a0004c0004t0001g0257 a0014c0058t0001g0013 a0004c0004t0001g0257 a0014c0058t0001g0013	2	310	0.0065	-152	c.-60 others(19): Show c.-60+17606_-60+17757del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400640	TGGTCATC others(145): Show TGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GCC	T T	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0288 a0004c0004t0001g0288	1	310	0.0032	-152	c.-60 others(19): Show c.-60+17492_-60+17643del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ASMTL_chrX_1398139_1457909	1453754	AGTGGAGA others(145): Show AGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGG GGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGG CCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGG GGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG03540.hp1 HG02109.hp2 HG02257.hp2 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020	3	185	0.0162	-152	c.-10 others(10): Show c.-1066_-915del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		846		chrX	TogoVar
ATP11A_chr13_112685038_112892168	112803900	CCTCCTTC others(145): Show CCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCT TTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTC CCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCTCCT TTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03831.hp1 HG00609.hp1 HG03831.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0134 a0001c0006t0001g0145 a0001c0006t0001g0134 a0001c0006t0001g0145	2	254	0.0079	-152	c.163 others(16): Show c.163-1055_163-904del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATXN10_chr22_45666834_45850307	45671473	CCCCGATA others(145): Show CCCCGATACCCGCTCCCAAGACCGAGACCTTGTTACGGCCCCACCCTCCA CAGGCCCCTTACCCCCCGGATCCCCTCCCCTGGGGGAGACCCCTCTGTCC GCGGGCACCCTCCTATAGGACGCGCCCCTCTTTCTCAGGGTGAACCTCTG GTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG01243.hp1 others(13): Show HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01433.hp1 HG01943.hp2 HG02572.hp2 HG02615.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03195.hp1 HG03471.hp1 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0001t0001 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 others(13): Show a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0316 a0001c0001t0012g0080 a0001c0001t0016g0301	16	316	0.0506	-152	c.-59 others(9): Show c.-590_-439del	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding		360		chr22	TogoVar
B3GNTL1_chr17_82937149_83056770	83025157	AGACACCG others(145): Show AGACACCGCGGAGTCCACACACGGACACCGCGGAGAGTCCACACACACAT AGAAACTGTGAAGTCCACACACACACGGACACCGCGGAGTCCACACACGG ACACCGCGGAGAGTCCACACACACATAGAAACTGTGAAGTCCACACACAC ACG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG03453.hp2 others(3): Show HG02055.hp2 HG02486.hp1 HG03453.hp2 HG03579.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0001c0014 a0001c0029	a0001c0001t0002 a0001c0002t0016 a0001c0011t0030 others(2): Show a0001c0001t0002 a0001c0002t0016 a0001c0011t0030 a0001c0014t0018 a0001c0029t0001	a0001c0001t0002g0133 a0001c0002t0016g0134 a0001c0002t0016g0135 others(3): Show a0001c0001t0002g0133 a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0011t0030g0143 a0001c0014t0018g0049 a0001c0029t0001g0141	6	266	0.0226	-152	c.297 others(17): Show c.297+9726_297+9877del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	499401	GTCCTAGC others(145): Show GTCCTAGCCCGTGGAGCCCGTGCTCTCACTATCTAGAACAGTCCTAGCCC GTGGAGCCCGTGCTCTCACTATCTAGAACACTCCTAGCCCGTGGAGCCCG TGCTCTCACTATCTACTAGCCCGTGGAGCCCGTGCTCTCACTATCTAGAA CAC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0305 a0003c0004t0002g0305	1	394	0.0025	-152	c.170 others(19): Show c.170-35725_170-35574del	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	499441	GTCCTAGC others(145): Show GTCCTAGCCCGTGGAGCCCGTGCTCTCACTATCTAGAACACTCCTAGCCC GTGGAGCCCGTGCTCTCACTATCTACTAGCCCGTGGAGCCCGTGCTCTCA CTATCTAGAACACTCCTAGCCCGTGGAGCCCGTGCTCTCACTATCTAGAA CAC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp2 HG02109.hp1 others(28): Show HG01074.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18747.hp2 NA18982.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19078.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0012 a0023	a0001c0001 a0001c0002 a0001c0013 others(10): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0003c0004 a0004c0005 a0004c0028 a0005c0006 a0006c0007 a0007c0008 a0009c0018 a0012c0019 a0023c0046	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0028 a0001c0001t0046 a0001c0001t0053 a0001c0001t0061 a0001c0002t0005 a0001c0002t0009 a0001c0002t0075 a0001c0013t0001 a0001c0013t0020 a0002c0003t0050 a0003c0004t0002 a0003c0004t0038 a0003c0004t0064 a0004c0005t0016 a0004c0028t0004 a0005c0006t0002 a0005c0006t0016 a0005c0006t0033 a0006c0007t0037 a0006c0007t0039 a0006c0007t0065 a0007c0008t0017 a0009c0018t0005 a0012c0019t0002 a0023c0046t0013	a0001c0001t0001g0243 a0001c0001t0002g0126 a0001c0001t0020g0130 others(28): Show a0001c0001t0001g0243 a0001c0001t0002g0126 a0001c0001t0020g0130 a0001c0001t0028g0048 a0001c0001t0046g0312 a0001c0001t0053g0077 a0001c0001t0061g0166 a0001c0002t0005g0075 a0001c0002t0005g0237 a0001c0002t0009g0241 a0001c0002t0075g0191 a0001c0013t0001g0128 a0001c0013t0020g0129 a0002c0003t0050g0278 a0003c0004t0002g0297 a0003c0004t0038g0148 a0003c0004t0064g0286 a0004c0005t0016g0295 a0004c0028t0004g0207 a0005c0006t0002g0198 a0005c0006t0016g0188 a0005c0006t0033g0127 a0006c0007t0037g0211 a0006c0007t0039g0301 a0006c0007t0065g0206 a0007c0008t0017g0147 a0007c0008t0017g0178 a0009c0018t0005g0170 a0012c0019t0002g0185 a0012c0019t0002g0186 a0023c0046t0013g0245	31	394	0.0787	-152	c.170 others(19): Show c.170-35613_170-35462del	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
CAB39L_chr13_49303650_49449064	49318483	AGGGAAAG others(145): Show AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19030.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0109 a0001c0001t0006g0162 a0001c0001t0001g0109 a0001c0001t0006g0162	2	324	0.0062	-152	c.835 others(17): Show c.835-7642_835-7491del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CALN1_chr7_71774491_72417338	72174876	CTTTAAAT others(145): Show CTTTAAATATGTGCAGTGTACTGTATGTAAACTATACCTCAATATAATCA ATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTTTGGTCTCTTTAT TGGGTGGTAGTATTATAGGTATATACTTAGTCAAAACTCAACAAATTGCA CAA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0122 a0001c0001t0040g0122	1	142	0.0070	-152	c.245 others(19): Show c.245-68734_245-68583del	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88954532	ACCCAAGG others(145): Show ACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCC TGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACTCCACCCA AGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACC CCG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0029 a0001c0020t0029	a0001c0020t0029g0111 a0001c0020t0029g0111	1	284	0.0035	-152	c.151 others(19): Show c.151+21973_151+22124del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954871	CTCAGCCA others(145): Show CTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGC TCCTGACCCCATCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCAG CCAAGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTG ACT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03239.hp1 NA19004.hp2 others(2): Show HG00280.hp1 HG03239.hp1 NA19004.hp2 NA19005.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0001 a0001c0003t0004	a0001c0001t0001g0011 a0001c0001t0001g0269 a0001c0003t0001g0204 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0269 a0001c0003t0001g0204 a0001c0003t0004g0199 a0001c0003t0004g0200	5	284	0.0176	-152	c.151 others(19): Show c.151+21634_151+21785del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954875	GCCAAGGC others(145): Show GCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCCT GACCCCATCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCAGCCAA GGCTCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACTC CAC	G G	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	284	0.0035	-152	c.151 others(19): Show c.151+21630_151+21781del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955635	CCCAAGGC others(145): Show CCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCACCCAAGGCTCCT GACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAA GGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCT CAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp2 HG02145.hp1 others(7): Show HG00735.hp2 HG01361.hp2 HG02145.hp1 HG02698.hp2 HG03209.hp1 HG03239.hp2 HG03834.hp2 HG04204.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0016 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0020 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0057 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0057 a0001c0001t0001g0098 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0016g0023 a0001c0001t0020g0262 a0001c0003t0001g0252 a0001c0003t0002g0253	10	284	0.0352	-152	c.151 others(19): Show c.151+20870_151+21021del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC73_chr11_32597721_32799662	32755857	GTATATAT others(145): Show GTATATATCTCCATATATATATCTGTGTATATATCTCCATATATATCTAT ATATATCTCCATATATATATCTATATATATATCTCCATATATATATCTAT ATATATATCTCCATATATATATCTATATATATATCTCCATATATATATCT ATA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02040.hp1 HG02165.hp1 others(8): Show HG01981.hp2 HG02040.hp1 HG02165.hp1 HG03669.hp2 HG03942.hp2 HG04115.hp1 NA18950.hp2 NA19003.hp2 NA19068.hp1 NA19072.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0182 others(8): Show a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0004t0001g0180 a0001c0004t0001g0200	11	312	0.0353	-152	c.135 others(17): Show c.135+4100_135+4251del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCDC73_chr11_32597721_32799662	32755883	GTATATAT others(145): Show GTATATATCTCCATATATATCTATATATATCTCCATATATATATCTATAT ATATATCTCCATATATATATCTATATATATATCTCCATATATATATCTAT ATATATATCTCCATATATATATCTATATATATATCTCCATATATATATCT ATA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0132 a0001c0003t0001g0132	1	312	0.0032	-152	c.135 others(17): Show c.135+4074_135+4225del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar

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