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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLX9_chr21_44935029_44981973	44973444	ACCCCGCC others(122): Show ACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGAGTGCCCTCACCCCGC CCACCCTCTCCAGGGATTCAGCTCCTGAGTGCCCTCACCCCGCCCACCCT CTCCAGGGGTTCAGCTCCTATGTGCCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG03579.hp1 others(1): Show HG02486.hp2 HG02723.hp2 HG03579.hp1 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0144 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0144 a0005c0006t0001g0137	4	334	0.0120	-129	c.569 others(15): Show c.569+201_569+329del		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
SMOC2_chr6_168436184_168672992	168590188	TAGTTTAG others(122): Show TAGTTTAGGGGGCAGCCGGCCTGGTGTTGGTCAGGTGTGGCATTAGTTTA CGGGGCAGCCGGTCTGGTGGTGGTCAGGTGTGGCATGAGTTTAGGGGGCA GCCGGCCTGGTGGTGGTCAGGTGTGGCATG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(67): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02293.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA19000.hp1 NA19065.hp2 NA19079.hp2 NA19088.hp1 NA19091.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0013 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0014 a0001c0002t0016 a0001c0004t0005 a0001c0008t0002 a0001c0013t0002 a0003c0009t0003	a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0095 others(67): Show a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0149 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0006g0128 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0007g0053 a0001c0002t0008g0047 a0001c0002t0013g0062 a0001c0002t0014g0005 a0001c0002t0016g0046 a0001c0004t0005g0048 a0001c0008t0002g0042 a0001c0013t0002g0033 a0003c0009t0003g0088	70	180	0.3889	-129	c.638 others(17): Show c.638-8475_638-8347del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX8_chr7_2246770_2319441	2268686	CCCCTCTG others(122): Show CCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCAGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0353 a0001c0001t0005g0353	1	370	0.0027	-129	c.621 others(15): Show c.621+744_621+872del		SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10						chr7	TogoVar
SORCS2_chr4_7187538_7747827	7724738	AGTAGTGG others(122): Show AGTAGTGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATGGTGCTGG TGAGGATGGTGATGGTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTG GAGGTGATGGTGGTAGTGGTGATGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18966.hp1 NA20300.hp2 HG01891.hp1 NA18966.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0041 a0001c0015t0011 a0001c0002t0041 a0001c0015t0011	a0001c0002t0041g0096 a0001c0015t0011g0002 a0001c0015t0011g0015 a0001c0002t0041g0096 a0001c0015t0011g0002 a0001c0015t0011g0015	3	168	0.0179	-129	c.261 others(17): Show c.2612-385_2612-257del		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA22_chr17_3435019_3476819	3464877	TGGGAGGG others(122): Show TGGGAGGGGGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCGGT CTGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00735.hp2 others(27): Show HG00099.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01517.hp1 HG01952.hp2 HG02602.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG04115.hp2 HG06807.hp2 NA20805.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0003 a0004c0004t0002g0050 a0004c0004t0002g0051 others(14): Show a0004c0004t0002g0003 a0004c0004t0002g0050 a0004c0004t0002g0051 a0004c0004t0002g0052 a0004c0004t0002g0053 a0004c0004t0002g0054 a0004c0004t0002g0283 a0004c0004t0002g0284 a0004c0004t0002g0285 a0004c0004t0002g0286 a0004c0004t0002g0287 a0004c0004t0002g0288 a0004c0004t0002g0289 a0004c0004t0002g0290 a0004c0004t0002g0291 a0004c0004t0002g0293 a0004c0004t0002g0294	30	420	0.0714	-129	c.173 others(17): Show c.173-2239_173-2111del		SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	3/8						chr17	TogoVar
SSH2_chr17_29620938_29935228	29895496	TTATATAT others(122): Show TTATATATGAAATATATAAAATATATTTTATATATACATTTTATATATGA AATATATAAAATATATTTTATATATACATTTTATATATGAAATATATAAA ATATATTTTATATATACATTTTATATATGA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	232	0.0043	-129	c.63+ others(17): Show c.63+34313_63+34441del		SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15						chr17	TogoVar
SSH2_chr17_29620938_29935228	29895576	TTATATAT others(122): Show TTATATATGAAATATATAAAATATATTTTATATATACATTTTATATATGA AATATATAAAATATATTTTATATACACATTTTATATATGAAATATATAAA ATATATTTTATATACACATTTTATATATGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01346.hp1 others(1): Show HG00741.hp2 HG01069.hp1 HG01346.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0069 a0001c0001t0001g0073	4	232	0.0172	-129	c.63+ others(17): Show c.63+34233_63+34361del		SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15						chr17	TogoVar
STAC_chr3_36375504_36553007	36398430	AGGAAGGA others(122): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGG GAAGGAAGAAAGGAAGGAGGGAAGGAAGAGAAAAAGAAAGAGAGAGAAAG AAAGAAAGAGAGGTAAAGAGAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01099.hp1 others(16): Show HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01192.hp2 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp2 HG01981.hp2 HG02027.hp1 HG02257.hp1 HG03704.hp1 HG03831.hp1 NA18747.hp2 NA18955.hp1 NA18961.hp2 NA18979.hp2 NA19058.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 others(1): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0005t0003	a0001c0002t0003g0011 a0001c0002t0003g0014 a0001c0002t0003g0021 others(16): Show a0001c0002t0003g0011 a0001c0002t0003g0014 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0029 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0005g0007 a0001c0002t0005g0020 a0001c0002t0005g0046 a0001c0002t0008g0006 a0001c0002t0008g0035 a0001c0005t0003g0030	19	316	0.0601	-129	c.111 others(19): Show c.111+17718_111+17846del		STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr3	TogoVar
STARD9_chr15_42570606_42725998	42575320	AGCGCGTG others(122): Show AGCGCGTGTTTGGGCGGGGGCGACCCGGGAGGCTTCGGATGGAACGAGGC GGAGCGAGCCCTGGCATCCTCCCGCCCACCAGGCTAAGGACTGGCCGAAC GTCCACACGGGCCCGCCTGCTCTGGCTGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02258.hp2 others(3): Show HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02895.hp1 HG03139.hp1 NA20300.hp1	a0002 a0010 a0030 a0002 a0010 a0030	a0002c0002 a0010c0012 a0030c0033 a0002c0002 a0010c0012 a0030c0033	a0002c0002t0003 a0010c0012t0002 a0030c0033t0002 a0002c0002t0003 a0010c0012t0002 a0030c0033t0002	a0002c0002t0003g0004 a0002c0002t0003g0005 a0002c0002t0003g0006 others(3): Show a0002c0002t0003g0004 a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0008 a0010c0012t0002g0007 a0030c0033t0002g0057	6	210	0.0286	-129	c.-39 others(9): Show c.-395_-267del		STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding					285		chr15	TogoVar
SYTL4_chrX_100669491_100737121	100724014	TGGGGGGG others(122): Show TGGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTGCTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	285	0.0035	-129	c.-24 others(19): Show c.-240+7275_-240+7403del		SYTL4	ENSG00000102362.16	transcript	ENST00000372989.6	protein_coding	2/19						chrX	TogoVar
TAF13_chr1_109059140_109081003	109071956	AAATATAT others(122): Show AAATATATATATATATATATACACACATATATATATATATATATATATAT ATATATATACACACACATATATATATATATATATATATACACACACATAT ATATATATATATATATATATACACACACAT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	414	0.0024	-129	c.106 others(17): Show c.106+2902_106+3030del		TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3						chr1	TogoVar
TEX29_chr13_111315642_111349248	111340866	CATAACCC others(122): Show CATAACCCGTGTTTAGTGAGCATCTGTGCTTGTTGATGAAAATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02055.hp1 others(9): Show HG01109.hp2 HG01243.hp1 HG02055.hp1 HG02572.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0059	12	416	0.0289	-129	c.239 others(16): Show c.239+956_239+1084del		TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
THOP1_chr19_2780503_2820807	2811719	TGTCCTGA others(122): Show TGTCCTGAACAGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTG AACGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAATGGCA AGGTACGCGGGGACTGGGGACAGGGAGGGC	T T	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02922.hp2 HG03098.hp1 HG03453.hp2 others(1): Show HG02922.hp2 HG03098.hp1 HG03453.hp2 NA18906.hp2	a0004 a0004	a0004c0006 a0004c0007 a0004c0006 a0004c0007	a0004c0006t0008 a0004c0007t0008 a0004c0007t0022 a0004c0006t0008 a0004c0007t0008 a0004c0007t0022	a0004c0006t0008g0061 a0004c0006t0008g0062 a0004c0007t0008g0065 others(1): Show a0004c0006t0008g0061 a0004c0006t0008g0062 a0004c0007t0008g0065 a0004c0007t0022g0056	4	370	0.0108	-129	c.190 others(13): Show c.1903_1908+123del	p.Ser others(13): Show p.Ser635_Lys636del	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	12/13	2063/4761	1903/2070	635/689		INFO_REALIGN_3_PRIME	chr19	TogoVar
TPGS1_chr19_502497_524654	523149	GAGCATTT others(122): Show GAGCATTTCAGTGAGCACGGGCCGGGGGCTCAGCAGCATTTCCGGTGAGC ACGGGCCGGGGGCTCAGCATTTCCGGTGAGCACGGGCCGAGGGCTCAGCA GCAATTCCGGTGAGCACGGGCCGGGGGCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	344	0.0029	-129	c.37 others(11): Show c.3727_*3855del		TPGS1	ENSG00000141933.9	transcript	ENST00000359315.6	protein_coding					3496		chr19	TogoVar
TRIO_chr5_14138342_14515204	14403420	GGTGAGGG others(122): Show GGTGAGGGTGTAGGTTGTGGTGAGGGTGTAGGTTGTGGTGAGGGTGCAGG TTGTGGTGAGGGTGCAGGTGGTGGTGGTGAGGGTGTAGGTGGTGGTGGTG AGGGTGCAGGTTGTGGTGAGGGTGCAGGTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp1 HG03195.hp1 others(6): Show HG02572.hp2 HG02970.hp1 HG03195.hp1 HG03209.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp1 NA18942.hp1 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 others(1): Show a0001c0002 a0001c0004 a0001c0007 a0001c0011	a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0007t0001 a0001c0011t0001	a0001c0002t0001g0028 a0001c0002t0002g0041 a0001c0002t0002g0042 others(6): Show a0001c0002t0001g0028 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0004t0002g0182 a0001c0007t0001g0013 a0001c0007t0001g0018 a0001c0011t0001g0099 a0001c0011t0001g0101 a0001c0011t0001g0126	9	198	0.0455	-129	c.471 others(19): Show c.4716+2366_4717-2290del		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	31/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TSPAN9_chr12_3072379_3291559	3095406	GTGGCCGG others(122): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGACTGACC CCCCCCCACCTCCCTCCCGGACGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01257.hp1 HG01258.hp1 others(9): Show HG01192.hp2 HG01257.hp1 HG01258.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02723.hp1 HG03225.hp1 HG03516.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0015 a0001c0001t0032 others(6): Show a0001c0001t0010 a0001c0001t0015 a0001c0001t0032 a0001c0001t0045 a0001c0001t0055 a0001c0001t0108 a0001c0002t0018 a0001c0002t0030 a0001c0002t0065	a0001c0001t0010g0040 a0001c0001t0010g0041 a0001c0001t0015g0035 others(9): Show a0001c0001t0010g0040 a0001c0001t0010g0041 a0001c0001t0015g0035 a0001c0001t0015g0036 a0001c0001t0015g0037 a0001c0001t0032g0038 a0001c0001t0045g0023 a0001c0001t0055g0079 a0001c0001t0108g0288 a0001c0002t0018g0039 a0001c0002t0030g0114 a0001c0002t0065g0034	12	288	0.0417	-129	c.-18 others(19): Show c.-18+11754_-18+11882del		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3095499	ACTGACCC others(122): Show ACTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(22): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02451.hp2 HG02647.hp2 HG02735.hp2 HG03098.hp1 HG03239.hp1 HG03491.hp1 HG03710.hp1 NA18747.hp2 NA18944.hp1 NA18983.hp2 NA19002.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0027 a0001c0001t0034 a0001c0001t0081 a0001c0002t0066 a0001c0002t0098 a0001c0002t0100 a0001c0003t0033 a0001c0004t0096	a0001c0001t0001g0215 a0001c0001t0001g0235 a0001c0001t0001g0237 others(22): Show a0001c0001t0001g0215 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0002g0236 a0001c0001t0002g0245 a0001c0001t0003g0008 a0001c0001t0003g0104 a0001c0001t0005g0021 a0001c0001t0006g0252 a0001c0001t0007g0196 a0001c0001t0009g0027 a0001c0001t0010g0025 a0001c0001t0016g0005 a0001c0001t0027g0054 a0001c0001t0034g0249 a0001c0001t0034g0250 a0001c0001t0081g0197 a0001c0002t0066g0103 a0001c0002t0098g0198 a0001c0002t0100g0243 a0001c0003t0033g0093 a0001c0004t0096g0055	25	288	0.0868	-129	c.-18 others(19): Show c.-18+11793_-18+11921del		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TXK_chr4_48061393_48139250	48104283	ATATATAA others(122): Show ATATATAATATATAATATAATATATAATATATATAATATATAATATAATA TATAATATATATAATATATAATATAATATATAATATATATAATATATAAT ATTATATATAATATATATAATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp1 HG02257.hp2 others(9): Show HG01255.hp2 HG02109.hp1 HG02257.hp2 HG02723.hp2 HG02818.hp1 HG02965.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0124 a0001c0001t0004g0180 others(9): Show a0001c0001t0004g0094 a0001c0001t0004g0124 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0192 a0001c0001t0004g0193	12	362	0.0332	-129	c.501 others(15): Show c.501+489_501+617del		TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14						chr4	TogoVar
TYMS_chr18_652653_678578	667346	AGATGGTG others(122): Show AGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGAT GGTGATGGTGATGATGGAGATGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19062.hp1 NA18979.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0260 a0001c0001t0003g0261	2	482	0.0042	-129	c.455 others(17): Show c.455-1708_455-1580del		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
UROC1_chr3_126476166_126522773	126515737	ACCCACCA others(122): Show ACCCACCACCTACCCTCTCCCCAACCCCCAGCACCCACCACTTACCCTCC CCCAACCCCCAGCACCCACCACCTACCCTCCCCCTCATCTGCCCAGCACC CACCACCTACCCTCTCCCCAACCCCCAGTG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02723.hp1 HG02886.hp2 HG01255.hp1 HG02723.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0028 a0001c0001t0005g0197 a0001c0001t0002g0028 a0001c0001t0005g0197	3	380	0.0079	-129	c.126 others(17): Show c.126+1728_126+1856del		UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19						chr3	TogoVar
XG_chrX_2747040_2821500	2773708	AGAGAAGG others(122): Show AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG CGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0021 a0001c0001t0021g0021	1	322	0.0031	-129	c.104 others(16): Show c.104-1007_104-879del		XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10						chrX	TogoVar
ZDHHC4_chr7_6572454_6594374	6577111	CATAAAAT others(122): Show CATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAATA AATAAAATAAAATAAATAAAATAAAATAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG02165.hp1 others(2): Show HG01175.hp2 HG01243.hp1 HG02165.hp1 HG03195.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0103 a0002c0002t0001g0104 others(1): Show a0002c0002t0001g0001 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105	5	408	0.0123	-129	c.-54 others(9): Show c.-549_-421del		ZDHHC4	ENSG00000136247.15	transcript	ENST00000335965.11	protein_coding					342		chr7	TogoVar
ZEB2_chr2_144379081_144525119	144497860	TATATATA others(122): Show TATATATATATGTCATTCTCAACATATATATATATGTCATTCTCAACATA TATATTATATATTATATAATATATATTAATATTATATATTATATAATATA TATTAATATTATATATTATATAATATATTA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04184.hp1 HG03927.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0045 a0001c0001t0016g0177 a0001c0001t0001g0045 a0001c0001t0016g0177	2	248	0.0081	-129	c.73+ others(17): Show c.73+19289_73+19417del		ZEB2	ENSG00000169554.23	transcript	ENST00000627532.3	protein_coding	2/9						chr2	TogoVar
ZNF407_chr18_74592870_75070671	75067409	CGCTGGAA others(122): Show CGCTGGAAGCTCCACTGCCCTTTACAAGGTTCTATGAGCGCGGGGCTGGA AGCTCCACTGCCCTTTACAAGGTTCTATGAGCGCGGGGCTGGAAGCTCCA CTGCCCTTTACAAGGTTCTATGAGCGCGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	92	0.0109	-129	c.29 others(11): Show c.2942_*3070del		ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding					1739		chr18	TogoVar
ZNF516_chr18_76352682_76500242	76423584	ACAGGTAA others(122): Show ACAGGTAAAAAGGCTTCACCCCTGAAACACCCACACGCAGGTGAAAGGGT CCCCCCGAAACACACGCAGGTGAAAAGGCTCCCTCCTGAAACATACACAC GCAGGTGAAAAGGCTCCCCCGAAACACACG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01928.hp2 HG01993.hp2 others(3): Show HG01123.hp1 HG01928.hp2 HG01993.hp2 HG02273.hp1 HG02300.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0039 a0001c0001t0047 others(3): Show a0001c0001t0001 a0001c0001t0039 a0001c0001t0047 a0001c0001t0168 a0001c0002t0163 a0001c0002t0167	a0001c0001t0001g0086 a0001c0001t0039g0085 a0001c0001t0047g0022 others(3): Show a0001c0001t0001g0086 a0001c0001t0039g0085 a0001c0001t0047g0022 a0001c0001t0168g0087 a0001c0002t0163g0080 a0001c0002t0167g0091	6	346	0.0173	-129	c.181 others(21): Show c.1810+17532_1810+17660del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF641_chr12_48332180_48355919	48332473	TCCACCTC others(122): Show TCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGGCCGACCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00558.hp1 others(70): Show HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01433.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG02300.hp2 HG02523.hp2 HG02698.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp1 NA18612.hp1 NA18940.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18979.hp2 NA18980.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA19006.hp2 NA19009.hp2 NA19056.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0022	a0001c0001t0003g0003 a0001c0001t0003g0030 a0001c0001t0005g0006 others(4): Show a0001c0001t0003g0003 a0001c0001t0003g0030 a0001c0001t0005g0006 a0001c0001t0005g0018 a0001c0001t0007g0040 a0001c0001t0015g0031 a0001c0001t0022g0091	73	408	0.1789	-129	c.10 others(13): Show c.10371_*10499del		ZNF641	ENSG00000167528.13	transcript	ENST00000547026.6	protein_coding					4706		chr12	TogoVar
ZNF723_chr19_22827291_22863667	22862342	GTAATATA others(122): Show GTAATATAATATATATATTATATATATGTAATATAATATATATATTATAT ATATGTAATATAATATATATGTAATATAATATATATATTATATATATGTA ATATAATATATATATTATATATATGTAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0059 a0002c0002t0003g0059	1	364	0.0028	-129	c.39 others(11): Show c.3910_*4038del		ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding					3676		chr19	TogoVar
ABCC1_chr16_15944616_16148053	16003170	GGGTGAAT others(121): Show GGGTGAATGAATTGGTAGGTGGGTAGGGTGGATGGATGAATTGGTGGATG GGTAGGTGGATGGATGAATGAACTGGTGGGTTGCTGGATGGGTGGATGAA TTGGTAGGTGGGTGGATGGATGGATTGAT	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	249	0.0040	-128	c.49- others(15): Show c.49-4643_49-4516del		ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99838245	AGAGGGGC others(121): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0219 a0014c0023t0001g0219	1	336	0.0030	-128	c.361 others(19): Show c.3614+1957_3614+2084del		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31					INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC5_chr3_183914934_184022884	183956786	GGATCCGT others(121): Show GGATCCGTGTGTATATCACATCTGTTACATGCAGATCCGTGTGTAAATCA CATCGGTTACATGCAGATCCGTGTGTATATCATATAGGTTACATGCAGAT CCGTGTGTATATCATATAGGTTACATGCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00597.hp2 others(114): Show HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG03017.hp1 HG03209.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0013 others(5): Show a0001c0001 a0001c0002 a0001c0013 a0001c0022 a0001c0023 a0002c0015 a0003c0011 a0004c0012	a0001c0001t0003 a0001c0002t0001 a0001c0002t0008 others(8): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0013t0003 a0001c0022t0003 a0001c0023t0001 a0002c0015t0001 a0003c0011t0001 a0004c0012t0001	a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0227 others(110): Show a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0016 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0150 a0001c0002t0001g0252 a0001c0002t0001g0256 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0287 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0001g0363 a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0008g0261 a0001c0002t0008g0262 a0001c0002t0008g0263 a0001c0002t0008g0264 a0001c0002t0009g0266 a0001c0002t0009g0267 a0001c0002t0009g0268 a0001c0002t0012g0269 a0001c0002t0012g0270 a0001c0013t0003g0090 a0001c0022t0003g0024 a0001c0023t0001g0140 a0002c0015t0001g0043 a0003c0011t0001g0077 a0004c0012t0001g0099	117	378	0.3095	-128	c.248 others(19): Show c.2482+2819_2482+2946del		ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29						chr3	TogoVar
ABCC5_chr3_183914934_184022884	183957160	GGTTACAT others(121): Show GGTTACATGTGGGTCCGTGTGTATATCACATCGGTTACATGCTTATCCGT GTGTATATCACATCGGTTACATGCAGATCCGTGTGTATATCACATCTGTT ACATGCGGATCCGTGTGTATATGACATCA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03540.hp2 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0360 a0001c0002t0001g0131 a0001c0002t0001g0360	2	378	0.0053	-128	c.248 others(19): Show c.2482+2445_2482+2572del		ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29						chr3	TogoVar
ABR_chr17_998519_1184981	1064368	CTGTTATG others(121): Show CTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTAT GTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACGTGAACTG AGGGCTATGCATGTTCCTCTAGACACTGT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0055 a0001c0012t0055	a0001c0012t0055g0235 a0001c0012t0055g0235	1	337	0.0030	-128	c.118 others(19): Show c.1182+2581_1182+2708del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22						chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288851	CCGTGTCT others(121): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	295	0.0034	-128	c.45 others(11): Show c.4585_*4712del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3539		chr1	TogoVar
ACSF3_chr16_89088852_89161233	89157465	TGCCTGCA others(121): Show TGCCTGCATACGTCACATGTATGTGTATCTCACACGCCTGCATACACCAC AGGTATGTATGTCACACGCCTGCATATGTCACATGTATGTGTCTCACGCC TGCATAAGTCACATGCATGTGTGTCTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0052 a0002c0003t0052	a0002c0003t0052g0240 a0002c0003t0052g0240	1	368	0.0027	-128	c.32 others(11): Show c.3259_*3386del		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding					1233		chr16	TogoVar
ADORA2B_chr17_15940130_15980746	15979643	CGGGGCGG others(121): Show CGGGGCGGCTGGCTGGGCGGAGGACTGACCCCCCCCACCTCCCTCCCGAA TGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC TGGGCAGAGGCGCCCCTCACCTCCCGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02717.hp2 HG03041.hp2 others(2): Show HG02280.hp1 HG02717.hp2 HG03041.hp2 HG03225.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0005 a0001c0004 a0003c0005	a0001c0004t0001 a0003c0005t0001 a0001c0004t0001 a0003c0005t0001	a0001c0004t0001g0033 a0001c0004t0001g0212 a0001c0004t0001g0261 others(2): Show a0001c0004t0001g0033 a0001c0004t0001g0212 a0001c0004t0001g0261 a0003c0005t0001g0028 a0003c0005t0001g0029	5	346	0.0145	-128	c.43 others(11): Show c.4302_*4429del		ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding					3898		chr17	TogoVar
AK5_chr1_77277019_77564966	77444295	TATATAGT others(121): Show TATATAGTATATATACACAATATATGTGTATATATATAGTATATATACAC AATATATGTGTATATATAGTATAAATATATACTATATATAGTATATATAG TATAAATATATACTATATATAGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01071.hp1 HG02486.hp2 others(2): Show HG00323.hp1 HG01071.hp1 HG02486.hp2 HG03579.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0011	a0001c0001t0001g0007 a0001c0001t0003g0164 a0001c0001t0003g0165 others(2): Show a0001c0001t0001g0007 a0001c0001t0003g0164 a0001c0001t0003g0165 a0002c0002t0002g0020 a0002c0002t0011g0084	5	284	0.0176	-128	c.105 others(21): Show c.1059+26584_1059+26711del		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
ANXA2_chr15_60342151_60402986	60366814	GGGTCGGC others(121): Show GGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGACCCCTCTGC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	334	0.0030	-128	c.149 others(17): Show c.149-2419_149-2292del		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12						chr15	TogoVar
ARHGAP10_chr4_147727088_148077776	147783794	ATGTATTA others(121): Show ATGTATTATATTTATATAACACACATTAAATTGTGTATTATATTTATATA ACACACATTAAATTGTGTATTATATTTATATAACACACATTAAATTGTGT ATTATATTTATATAACACACATTAAATTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02738.hp2 others(1): Show HG01243.hp2 HG02109.hp2 HG02738.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0002t0001g0072 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0002t0001g0072 a0001c0002t0001g0078	4	106	0.0377	-128	c.155 others(19): Show c.155-38873_155-38746del		ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP24_chr4_85470150_86007666	85875063	TTTATATA others(121): Show TTTATATATTATATTATATATAATATATTTATCTTATATATTATATTATA TATAATATATTTATCTTATATATTATATTATATATAATATATTTATCTTA TATATTATATTATATATAATATATTTATC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	108	0.0093	-128	c.269 others(19): Show c.269-48269_269-48142del		ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF10_chr8_1818926_1963641	1852195	CGGGCCCT others(121): Show CGGGCCCTCTAGAACCTCTCCATCATCCTGGAGAGGACCGGGGAGCAGCA CCGTTTCTGTCCTGAGGGCCCTCTAGAACCTCTCCATCATCCTGGAGAGG ACCGGGGAGCAGCACCGTTTCTGTCCTGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0064 a0003c0064	a0003c0064t0071 a0003c0064t0071	a0003c0064t0071g0189 a0003c0064t0071g0189	1	363	0.0028	-128	c.38- others(15): Show c.38-5538_38-5411del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATRNL1_chr10_115088365_115953999	115535853	TGGAGTTT others(121): Show TGGAGTTTGCTAGAGGTCCACTCCAGACCCTGTTTGCCTGGGTATCAGCA GCGGTGTCTGCAGAACAGCAGATTTTCGTGAACCACGAATGCTGCTGTCT GATCGTTCCTCTGGAAGTTTTGTCTCAGA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0034 a0001c0015t0034	a0001c0015t0034g0110 a0001c0015t0034g0110	1	128	0.0078	-128	c.371 others(21): Show c.3717-13601_3717-13474del		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	25/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	83025342	AGAGTCCA others(121): Show AGAGTCCACACACACATAGAAACTGTGAAGTCCACACACACACGGACACC GCGGAGTCCACACACGGACACCGCGGAGAGTCCACACACACATAGAAACT GTGAAGTCCACACACACACGGACACCGCG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0007 a0001c0006t0002g0007	1	266	0.0038	-128	c.297 others(17): Show c.297+9565_297+9692del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
B4GALNT4_chr11_364499_387117	381318	GTCCTGAC others(121): Show GTCCTGACCACCTCTCCGCCCCCGGCCCCGGGGTCCTGACCACCTCTCCG CCCCCGGCCCCGGGTTCCTGACCACCTCTCCGCCCCCGGCCCCGGGGTCC TGACCACCTCTCCGCCCCCGGCCCCGGGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG01943.hp2 others(18): Show HG00408.hp2 HG00544.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG03579.hp1 HG03669.hp1 HG06807.hp1 NA18747.hp2 NA18947.hp1 NA18952.hp2 NA18963.hp1 NA18970.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19081.hp2 NA19085.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0011 a0019 a0020	a0001c0001 a0002c0007 a0004c0006 others(3): Show a0001c0001 a0002c0007 a0004c0006 a0011c0018 a0019c0017 a0020c0013	a0001c0001t0001 a0002c0007t0001 a0004c0006t0001 others(3): Show a0001c0001t0001 a0002c0007t0001 a0004c0006t0001 a0011c0018t0001 a0019c0017t0001 a0020c0013t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(18): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0002c0007t0001g0132 a0002c0007t0001g0136 a0004c0006t0001g0026 a0011c0018t0001g0039 a0019c0017t0001g0034 a0020c0013t0001g0033	21	184	0.1141	-128	c.299 others(16): Show c.2997-173_2997-46del		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BCKDK_chr16_31103386_31117791	31104490	GGGAGGGA others(121): Show GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCC GGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCTGGCCAGTCGCCCCGTCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(22): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01255.hp2 HG01346.hp1 HG01515.hp1 HG01516.hp1 HG02300.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG03710.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	25	300	0.0833	-128	c.-41 others(11): Show c.-4166_-4039del		BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding					3895		chr16	TogoVar
C1orf159_chr1_1076823_1121089	1080649	ACCCCCAC others(121): Show ACCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCT GTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCC CCACCTCGGTCCCTGTCTCCTTCCCTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00741.hp1 others(48): Show HG00323.hp1 HG00609.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp1 HG01123.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01952.hp2 HG01978.hp1 HG02027.hp2 HG02055.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02602.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02965.hp1 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp2 HG03834.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18986.hp2 NA18994.hp1 NA18999.hp1 NA19005.hp2 NA19056.hp1 NA19068.hp2 NA19077.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0015 a0001c0002t0020 a0002c0003t0002	a0001c0001t0002g0017 a0001c0001t0002g0055 a0001c0001t0002g0060 others(48): Show a0001c0001t0002g0017 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0074 a0001c0001t0002g0268 a0001c0001t0002g0275 a0001c0001t0002g0312 a0001c0001t0003g0104 a0001c0001t0003g0176 a0001c0001t0003g0218 a0001c0001t0003g0284 a0001c0001t0003g0286 a0001c0001t0005g0096 a0001c0001t0010g0277 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0053 a0001c0002t0002g0056 a0001c0002t0002g0097 a0001c0002t0002g0106 a0001c0002t0002g0118 a0001c0002t0002g0120 a0001c0002t0002g0148 a0001c0002t0002g0192 a0001c0002t0002g0224 a0001c0002t0002g0241 a0001c0002t0002g0248 a0001c0002t0002g0254 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0274 a0001c0002t0004g0302 a0001c0002t0005g0024 a0001c0002t0005g0131 a0001c0002t0012g0008 a0001c0002t0015g0178 a0001c0002t0020g0069 a0002c0003t0002g0099	51	326	0.1564	-128	c.21 others(11): Show c.2116_*2243del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					1173		chr1	TogoVar
C20orf96_chr20_265863_295750	280167	GCCTAAGG others(121): Show GCCTAAGGTTACACCCAGCAGGTGCATAAAACCTACAGTAACAACAACAA CAACAATTGTACTTCCCTAAGGTTACACCCAGCAGGTGCATAAAACCTAC AGTAACAATAACAACAACAATTGTACTCC	G G	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18949.hp1 NA18959.hp2 others(5): Show NA18944.hp2 NA18949.hp1 NA18959.hp2 NA18979.hp1 NA19002.hp2 NA19054.hp2 NA19080.hp2 NA19087.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0004 a0001c0005t0001 a0001c0005t0004	a0001c0005t0001g0060 a0001c0005t0001g0102 a0001c0005t0001g0103 others(5): Show a0001c0005t0001g0060 a0001c0005t0001g0102 a0001c0005t0001g0103 a0001c0005t0001g0104 a0001c0005t0001g0106 a0001c0005t0001g0107 a0001c0005t0004g0064 a0001c0005t0004g0105	8	410	0.0195	-128	c.307 others(15): Show c.307-965_307-838del		C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	4/10						chr20	TogoVar
C2CD4C_chr19_400445_414147	404377	TCTGAGGG others(121): Show TCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGT CCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGT GGGGGGGGCACGGGGTCCTGCCCTGAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	322	0.0031	-128	c.25 others(11): Show c.2591_*2718del		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1067		chr19	TogoVar
C2CD4C_chr19_400445_414147	404605	GGGGGAGA others(121): Show GGGGGAGACGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTG CCCTGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGAGG GGGGAACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0012 a0001c0002t0007g0012	1	322	0.0031	-128	c.23 others(11): Show c.2363_*2490del		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					839		chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12623175	CCCTCCCT others(121): Show CCCTCCCTCCGTCCCTCCGTCCCTCCCTCCTTTCTTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCTTTCTTTCCTTCCTCCCT CCCTTCCTTCCTCCCTCCTTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0163 a0001c0001t0092g0163	1	214	0.0047	-128	c.225 others(19): Show c.225-43551_225-43424del		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227234	GGAAGTGG others(121): Show GGAAGTGGAAGACAGAGGGGGTGTGGGGGACAGAAGGCGGTGTGGGGAAC AGAGGGGGAGGTGGGGGACAGAGGAGAGTATGGGGGACAGAGGGGGTGTG GGGGACAGAAGGGGGTGTGGAAGACAGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	242	0.0041	-128	c.146 others(17): Show c.1469-718_1469-591del		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23						chr7	TogoVar

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