Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
TP73_chr1_3647516_3741201	3674989	GGTCTCCT others(161): Show GGTCTCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTG TCTCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTGTC TCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTGTCTC CTCCCACAATGGCCCAGGT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18522.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0012 a0001c0026t0038 a0001c0001t0012 a0001c0026t0038	a0001c0001t0012g0040 a0001c0026t0038g0043 a0001c0001t0012g0040 a0001c0026t0038g0043	2	358	0.0056	-168	c.-33 others(17): Show c.-33-7155_-33-6988del		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TPO_chr2_1408463_1548673	1534366	TCAACCTC others(161): Show TCAACCTCCCCAAATCCCTCCAACTGTGTGCAACCTCCCCAAATCCGCCC CCACCCTGTGCAGCCTCACAAAATTACCCCCAGTGCAATCTCAAATCCCT CCCACTCTGTGCAAACTCCCCAAACCCCCCACGCAGTGTGCAACTTCCCC AAATCCCTCCCACTCTGTG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	130	0.0077	-168	c.261 others(19): Show c.2619-6209_2619-6042del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPV3_chr17_3505502_3562812	3519395	GGGATGGA others(161): Show GGGATGGATGGATGGATGGATGGATGATTGGATGGATGGATGGATGGATG GATGGATAGATGATTAGATGGATGGATGGATAGATGATTGGATGGATGGA TGGATGGATGGGTGATTAGATGGATGGATGGATGGATGGATAGATGGATG GATGGACCAATTGATCGAT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02818.hp1 HG03516.hp2 others(2): Show HG02280.hp1 HG02818.hp1 HG03516.hp2 HG06807.hp1 NA21309.hp1	a0006 a0007 a0009 a0006 a0007 a0009	a0006c0047 a0007c0040 a0007c0069 others(1): Show a0006c0047 a0007c0040 a0007c0069 a0009c0100	a0006c0047t0008 a0007c0040t0006 a0007c0040t0015 others(2): Show a0006c0047t0008 a0007c0040t0006 a0007c0040t0015 a0007c0069t0016 a0009c0100t0015	a0006c0047t0008g0396 a0007c0040t0006g0398 a0007c0040t0015g0397 others(2): Show a0006c0047t0008g0396 a0007c0040t0006g0398 a0007c0040t0015g0397 a0007c0069t0016g0279 a0009c0100t0015g0160	5	404	0.0124	-168	c.181 others(17): Show c.1811-713_1811-546del		TRPV3	ENSG00000167723.15	transcript	ENST00000576742.6	protein_coding	14/17						chr17	TogoVar
TTBK2_chr15_42733730_42925778	42815903	TATATTTA others(161): Show TATATTTAAAAATATATATATATTTAAAAATATATATATATATATTTAAA AAAAAAATATATATATATATATATATTTGAGACGGAGTCTTGCTCTGTCT CAAATTTGGAAGAGATGTTCAATCTCTTCCAAATTCTCCCTCTCTCTATA TAAAAATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0022 a0003c0003t0004g0022	1	248	0.0040	-168	c.603 others(16): Show c.603+961_603+1128del		TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	7/14						chr15	TogoVar
TYMS_chr18_652653_678578	666888	GGGAGATG others(161): Show GGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATG GAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGT GATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGA TGGTGATGGTGATGGAGAT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02083.hp2 HG02523.hp2 others(3): Show HG00609.hp2 HG02083.hp2 HG02523.hp2 HG02735.hp1 HG02886.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0373 others(3): Show a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0373 a0001c0002t0001g0415 a0001c0002t0005g0158 a0001c0002t0005g0159	6	482	0.0125	-168	c.455 others(17): Show c.455-2169_455-2002del		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
UNC5A_chr5_176805559_176885898	176872243	TGCCCCAA others(161): Show TGCCCCAACACCACAGCTTCCCATCTGCCCACACTCGCCCAACACCACAG CTTCACATCTGCCCACACTCACCAACACCACAGCTTCCCATCTGTCCACG CTCACCAACACCACAGCTTCACATCTGCCCACACTCACCAACACCACAGC TTCCCATCTGCCCACACTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00609.hp2 others(77): Show HG00099.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18954.hp1 NA18963.hp2 NA18971.hp2 NA18982.hp1 NA18983.hp1 NA18995.hp2 NA19002.hp1 NA19057.hp2 NA19060.hp1 NA19074.hp2 NA19085.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0003 a0001c0001 a0001c0007 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0007t0001 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0026 others(75): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0260 a0001c0001t0002g0200 a0001c0001t0009g0043 a0001c0001t0016g0161 a0001c0001t0017g0007 a0001c0007t0001g0135 a0003c0003t0001g0082 a0003c0003t0001g0084	80	268	0.2985	-168	c.887 others(17): Show c.887-1671_887-1504del		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
YTHDC2_chr5_113508694_113600284	113587078	TAATATAT others(161): Show TAATATATAAATATATATTATGTATTCATATATAATATATAAATATATAT TATGTATTCATATATAATATATAAATATATATTATGTATTCATATATAAT ATATAAATATATATTATGTATTCATATATAATATATAAATATATATTATG TATTCATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0004 a0006c0014t0004	a0006c0014t0004g0249 a0006c0014t0004g0249	1	316	0.0032	-168	c.382 others(19): Show c.3825+2608_3825+2775del		YTHDC2	ENSG00000047188.16	transcript	ENST00000161863.9	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr5	TogoVar
ZFR_chr5_32349350_32449740	32448008	GATGAAAT others(161): Show GATGAAATACTTGACCAGAAGCAACCAATTATAATAGGGATTGTCATCCT TCATGTCCAGAACTGGTTTGGTATGCAAATCTGATCAAATCCTCTGTGCT TTCATCTCTCAGGATAAAGCAAATTCTTCCATGTGGCCCACGAGACTCTG TGGCCTGGCCCACCTGCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	382	0.0026	-168	c.-35 others(11): Show c.-3518_-3351del		ZFR	ENSG00000056097.16	transcript	ENST00000265069.13	protein_coding					3269		chr5	TogoVar
ZNF117_chr7_64966772_64996036	64977783	CTGGTTAA others(161): Show CTGGTTAAAAGCTTTTCCACATTCTTCACATTTGTAGGGTTTCTCTCCAA TATGAATTTTCTTATGTTTAATAAGGTTTGATGATCAATTAAAAGCTCTG CCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTCTTTTATG TGTAGAAAGGGTTGAAGAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0104 a0001c0001t0046g0104	1	444	0.0023	-168	c.16 others(9): Show c.168_*335del		ZNF117	ENSG00000152926.16	transcript	ENST00000282869.11	protein_coding	4/4				168		chr7	TogoVar
ZNF208_chr19_21961095_22015943	21972681	CTTTGCCA others(161): Show CTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTACAGTATGAATTTTC TTATGATAACTAAGGGTTGAGGACCACTTATAGGCTTTGCCACATTCTTC ACATTTGTAGGGTTTCTCTCCAGTATGAATTACCTTATGTTTAGTAAGGA CTGAGAATGTACTAAAGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18956.hp1 NA18956.hp1	a0025 a0025	a0025c0031 a0025c0031	a0025c0031t0004 a0025c0031t0004	a0025c0031t0004g0140 a0025c0031t0004g0140	1	404	0.0025	-168	c.218 others(9): Show c.2185_2352del	p.Ser others(13): Show p.Ser729_Lys784del	ZNF208	ENSG00000160321.16	transcript	ENST00000397126.9	protein_coding	4/4	2501/9088	2185/3843	729/1280			chr19	TogoVar
ZNF365_chr10_62369369_62407450	62369834	TATATATA others(161): Show TATATATATATCTCATATATATGTCCCATATATATATATCTCATATATAT GTCCCATATATATATATATCTCATATATATGTCCCATATATATATATCTC ATATATATGTCCCATATATATATATCTCATATATATGTCCCATATATATA TATCTCATATATATGTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	350	0.0029	-168	c.-46 others(11): Show c.-4637_-4470del		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					4534		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62369862	TATATATA others(161): Show TATATATATATCTCATATATATGTCCCATATATATATATATCTCATATAT ATGTCCCATATATATATATCTCATATATATGTCCCATATATATATATCTC ATATATATGTCCCATATATATATATCTCATATATATGTCCCATATATATA TATCTCATATATATGTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01496.hp1 HG02155.hp1 others(8): Show HG00639.hp1 HG01496.hp1 HG02155.hp1 HG02647.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG03516.hp2 NA18949.hp2 NA19000.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0125 others(4): Show a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0125 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0151 a0001c0001t0028g0003	11	350	0.0314	-168	c.-46 others(11): Show c.-4609_-4442del		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					4506		chr10	TogoVar
ZNF418_chr19_57916882_57940402	57926237	CTCATAAG others(161): Show CTCATAAGGCCTTTCTCCAGTGTGTACTCTCCTGTGTTCAGTAAGACTGA AGGTTTCAGCAAAGGATTTCCCACATTCGCTGCACTCGTAAGGCTTTCCT CGAGTATGAAGTCTCTGATGTTTAAAATGCGCAGACCTTCGAGTAAATGT TTTTCCACATTCCCTGCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp2 HG01074.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0075 a0013c0017t0001g0075	1	428	0.0023	-168	c.177 others(9): Show c.1776_1943del	p.Cys others(13): Show p.Cys593_Glu648del	ZNF418	ENSG00000196724.13	transcript	ENST00000396147.6	protein_coding	4/6	2265/3726	1776/2031	592/676			chr19	TogoVar
ZNF609_chr15_64455578_64691068	64577328	AATATATA others(161): Show AATATATACATATATATGTATATATATACACATATATGTATATATATACA CATATAAATATATACACATATATGTATATATATACACATATAAATATATA CACATATATGTATATATATACACATATAAATATATACATATATATGTATA TATATACACATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	176	0.0057	-168	c.748 others(19): Show c.748-45495_748-45328del		ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF626_chr19_20614939_20666571	20624379	CATGTGTA others(161): Show CATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCA CATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTT AGAGGAGCACTTAAAAGCTTTGCCACATTCTTCACATTTGTAGAATTTCT CTCCAGTATGAATTCTCCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18944.hp1 NA19005.hp2 NA18944.hp1 NA19005.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0006 a0003c0011t0006	a0003c0011t0006g0159 a0003c0011t0006g0160 a0003c0011t0006g0159 a0003c0011t0006g0160	2	378	0.0053	-168	c.133 others(9): Show c.1330_1497del	p.Arg others(13): Show p.Arg444_His499del	ZNF626	ENSG00000188171.17	transcript	ENST00000601440.6	protein_coding	4/4	1622/6063	1330/1587	444/528			chr19	TogoVar
ZNF628_chr19_55471617_55489487	55472171	GAGGAAGG others(161): Show GAGGAAGGTTTTACCTGTACAGATGGAACCCTGTATATTGTTGCTTCCTC CAGGGAGTCTGCCCTGGTTTCCCCCAGGCTGCGTCAGGAAGGTTTTACCT GTACAGATGGAACCCTGTATATTGTTGCTTCCTCCAGGGAGTCTGCCCTG GTTTCCCCCAGGCTGCGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG01891.hp2 others(6): Show HG01109.hp2 HG01884.hp2 HG01891.hp2 HG02630.hp1 HG02818.hp2 HG03139.hp1 HG03486.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0001c0001t0001 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0060 a0001c0001t0001g0113 a0001c0003t0001g0115 others(2): Show a0001c0001t0001g0060 a0001c0001t0001g0113 a0001c0003t0001g0115 a0001c0009t0001g0013 a0001c0009t0001g0039	9	422	0.0213	-168	c.-47 others(11): Show c.-4713_-4546del		ZNF628	ENSG00000197483.11	transcript	ENST00000598519.2	protein_coding					4445		chr19	TogoVar
ZNF726_chr19_23909886_23939484	23933123	GTGGAGAG others(161): Show GTGGAGAGAAACCCTACAAATGTGAAGAATGTGCCAAAGCTTTTAGCCAA TTCGGACACCTTACTACACATAGGATAATTCATACTGGAGAGAAACCCTA CAAATGTGAAGAATGTGGCAAAGCATTTATATGGCCCTCAACCCTAACTA AACATAAGAGGATTCACAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01167.hp1 HG01169.hp2 HG02897.hp2 others(1): Show HG01167.hp1 HG01169.hp2 HG02897.hp2 HG02922.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0051 a0004c0006t0001g0057 a0004c0006t0001g0051 a0004c0006t0001g0057	4	416	0.0096	-168	c.104 others(9): Show c.1040_1207del	p.Ala others(13): Show p.Ala347_Cys402del	ZNF726	ENSG00000213967.12	transcript	ENST00000594466.6	protein_coding	4/4	1149/2477	1040/1851	347/616		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF732_chr4_265675_310474	271243	TGCTTTGC others(161): Show TGCTTTGCCACACTCTTCACATCTATAAGGTTTCTCTCCAGTATGAATTT TCTTATGTTTACTCAGGTATGTGGACCATCCAAAGGCTTTGCCACACTCT TCACATTCGTAAGGTTTCTCTCCAGTATGAATTGTCTTATGTTTATTCAG GGCTCTGGAACATAAAAAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18939.hp1 NA19002.hp2 NA19076.hp2 NA18939.hp1 NA19002.hp2 NA19076.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0023 a0005c0007t0003g0044 a0005c0007t0003g0045 a0005c0007t0003g0023 a0005c0007t0003g0044 a0005c0007t0003g0045	3	326	0.0092	-168	c.144 others(9): Show c.1446_1613del	p.Phe others(13): Show p.Phe483_Ala538del	ZNF732	ENSG00000186777.13	transcript	ENST00000419098.6	protein_coding	4/4	1777/2346	1446/1758	482/585			chr4	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306297	CATCGCCA others(161): Show CATCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGA TAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGT ACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGT CCCCCCCGGCCTCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp2 others(146): Show HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0003c0004 a0005c0012 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0001 a0001c0007t0001 a0002c0002t0001 a0002c0002t0005 a0003c0004t0001 a0005c0012t0001 a0006c0009t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(146): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0198 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0002g0029 a0001c0001t0007g0084 a0001c0003t0001g0041 a0001c0003t0001g0081 a0001c0003t0001g0089 a0001c0003t0001g0092 a0001c0003t0001g0147 a0001c0007t0001g0094 a0002c0002t0001g0026 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0097 a0002c0002t0001g0104 a0002c0002t0001g0114 a0002c0002t0001g0126 a0002c0002t0001g0144 a0002c0002t0001g0178 a0002c0002t0001g0348 a0002c0002t0005g0006 a0003c0004t0001g0124 a0003c0004t0001g0141 a0003c0004t0001g0152 a0005c0012t0001g0057 a0006c0009t0001g0063	149	362	0.4116	-168	c.-12 others(19): Show c.-128+6818_-128+6985del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306300	CGCCAGAG others(161): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAG CTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACT AAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCC CCCCGGCCTCTCCCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01243.hp2 others(9): Show HG00639.hp2 HG01109.hp1 HG01243.hp2 HG02258.hp2 HG02559.hp2 HG02602.hp1 HG02735.hp2 HG02965.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp2 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0060 others(9): Show a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0119 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0249 a0001c0001t0004g0005 a0002c0002t0001g0245	12	362	0.0332	-168	c.-12 others(19): Show c.-128+6815_-128+6982del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306373	CTCTCCCA others(161): Show CTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCT TCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCA GAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACA AAGAGGCTCCTCCCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG02895.hp2 HG00323.hp1 HG00642.hp1 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0038 a0002c0002t0002g0036 a0002c0002t0002g0037 a0001c0001t0002g0038 a0002c0002t0002g0036 a0002c0002t0002g0037	3	362	0.0083	-168	c.-12 others(19): Show c.-128+6742_-128+6909del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306888	CGCCAGAG others(161): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTTGATAG CTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACT AAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCC CCCCGGCCTCTCCCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG01255.hp1 others(9): Show HG00544.hp1 HG00741.hp2 HG01255.hp1 HG01261.hp2 HG01952.hp2 HG03654.hp2 HG03834.hp1 HG04199.hp1 NA18952.hp1 NA18961.hp2 NA18973.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0002c0002t0002 a0002c0002t0006 a0007c0013t0002	a0001c0001t0001g0150 a0001c0001t0002g0008 a0001c0001t0002g0009 others(9): Show a0001c0001t0001g0150 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0006t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0006g0014 a0007c0013t0002g0013	12	362	0.0332	-168	c.-12 others(19): Show c.-128+6227_-128+6394del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56307004	CTTCTCTT others(161): Show CTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCT GTTGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGAT AGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTA CTAAGGACAGATGGGAGAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp2 others(159): Show HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0003c0004 a0005c0012 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001 a0001c0007t0001 a0002c0002t0001 a0002c0002t0005 a0003c0004t0001 a0005c0012t0001 a0006c0009t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(159): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0198 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0002g0029 a0001c0001t0004g0005 a0001c0001t0007g0084 a0001c0003t0001g0041 a0001c0003t0001g0081 a0001c0003t0001g0089 a0001c0003t0001g0092 a0001c0003t0001g0147 a0001c0007t0001g0094 a0002c0002t0001g0026 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0097 a0002c0002t0001g0104 a0002c0002t0001g0114 a0002c0002t0001g0126 a0002c0002t0001g0144 a0002c0002t0001g0178 a0002c0002t0001g0245 a0002c0002t0001g0348 a0002c0002t0005g0006 a0003c0004t0001g0124 a0003c0004t0001g0141 a0003c0004t0001g0152 a0005c0012t0001g0057 a0006c0009t0001g0063	162	362	0.4475	-168	c.-12 others(19): Show c.-128+6111_-128+6278del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ADARB2_chr10_1172313_1742525	1237009	CCCCTCTG others(160): Show CCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCC CCTGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTC TCCCTCCGGGTGTTAACT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0012 a0002c0002t0005g0012	1	106	0.0094	-167	c.136 others(19): Show c.1362-3331_1362-3165del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237044	CCCGGTGT others(160): Show CCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCC GGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGG GTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTGCCTCCGGGT GTTAACTCCCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02257.hp1 others(4): Show HG01884.hp2 HG02055.hp2 HG02257.hp1 HG02886.hp1 HG03139.hp2 NA18988.hp2 NA18995.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0010c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0007t0066 a0002c0002t0004 a0002c0002t0044 a0010c0009t0024	a0001c0001t0001g0078 a0001c0001t0003g0094 a0001c0001t0017g0030 others(4): Show a0001c0001t0001g0078 a0001c0001t0003g0094 a0001c0001t0017g0030 a0001c0007t0066g0105 a0002c0002t0004g0084 a0002c0002t0044g0049 a0010c0009t0024g0016	7	106	0.0660	-167	c.136 others(19): Show c.1362-3366_1362-3200del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238891	TACTCCCT others(160): Show TACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA18967.hp2 NA18984.hp1 others(2): Show HG02897.hp1 NA18967.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0001c0001t0035 a0001c0001t0054 others(2): Show a0001c0001t0012 a0001c0001t0035 a0001c0001t0054 a0002c0002t0004 a0002c0002t0062	a0001c0001t0012g0024 a0001c0001t0035g0079 a0001c0001t0054g0083 others(2): Show a0001c0001t0012g0024 a0001c0001t0035g0079 a0001c0001t0054g0083 a0002c0002t0004g0082 a0002c0002t0062g0093	5	106	0.0472	-167	c.136 others(19): Show c.1361+3073_1361+3239del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239597	CCCCTCTG others(160): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGCTTACTCCCC TCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTC TGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0018 a0002c0002t0006g0018	1	106	0.0094	-167	c.136 others(19): Show c.1361+2367_1361+2533del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239813	CCCCTCTC others(160): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCC TCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0099 a0001c0001t0058g0099	1	106	0.0094	-167	c.136 others(19): Show c.1361+2151_1361+2317del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADISSP_chr20_3748508_3772753	3769906	GCAAACAT others(160): Show GCAAACATTTACTGAATGTATCTGATGAGTAAGTTATTGTGCTAGGCTCT GTGGAGTGGAAGGCACTCACAGTTTAGTGTAGGAGGGACACCACACACAA AGAACTGTGGTCTCCTGTCCTTGCCAAATGTTCCTCACACTCCCAGGCAT CGGGCAGTCTGGCCCACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	446	0.0022	-167	c.-24 others(11): Show c.-2497_-2331del		ADISSP	ENSG00000101220.18	transcript	ENST00000379772.4	protein_coding					2154		chr20	TogoVar
AFAP1_chr4_7753714_7944861	7918249	GAAACAGG others(160): Show GAAACAGGGCTGCCAGATGAGACATTCGGCCCAGGTCACCAGGAAACAGG GCTGTGGATGAGACACTCAGCCCAGGTCACCCGCAAACAGGGCTGCCGGA AGAGACACTCAGCCCAGGTCACCAGGAAACAGGGCTGCCGGATGAGACAC TCGGCCCAGGTCACCCGC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0143 a0003c0006t0005g0143	1	318	0.0031	-167	c.-3+ others(17): Show c.-3+21240_-3+21406del		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17						chr4	TogoVar
APOA4_chr11_116815700_116828304	116818336	TATATATA others(160): Show TATATATATGAATTATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATGAATTTATATATGAATATATATGA ATTTATATATGAATATATATATGAATATATATGAATTTATATATGAATTA TATATGAATATATATGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 NA19062.hp1 HG02165.hp1 NA19062.hp1	a0001 a0006 a0001 a0006	a0001c0006 a0006c0012 a0001c0006 a0006c0012	a0001c0006t0001 a0006c0012t0001 a0001c0006t0001 a0006c0012t0001	a0001c0006t0001g0008 a0006c0012t0001g0017 a0001c0006t0001g0008 a0006c0012t0001g0017	2	462	0.0043	-167	c.23 others(11): Show c.2364_*2530del		APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding					2363		chr11	TogoVar
ARK2N_chr18_46169034_46271992	46183874	AGTGCAGT others(160): Show AGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCA AGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGTGTG CCACCATGCCTGGCTAATTTTTGTATTTTATTTTTGAGACGGAGCCTCAC AGTGTCACCCGGGCTGGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 NA18522.hp2 others(1): Show HG02451.hp1 HG02559.hp1 NA18522.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0013 a0003c0003t0013 a0001c0001t0013 a0003c0003t0013	a0001c0001t0013g0004 a0003c0003t0013g0010 a0003c0003t0013g0011 others(1): Show a0001c0001t0013g0004 a0003c0003t0013g0010 a0003c0003t0013g0011 a0003c0003t0013g0012	4	320	0.0125	-167	c.-71 others(17): Show c.-71+9555_-71+9721del		ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASAP1_chr8_130047104_130448674	130049991	TGGGGGGC others(160): Show TGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCA GAGGGGAATACATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAA CACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGG GGCAGAGGGGAATACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0022 a0002c0003t0001g0022	1	308	0.0033	-167	c.45 others(11): Show c.4573_*4739del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2112		chr8	TogoVar
ASMT_chrX_1610059_1648081	1640693	CTGTGTGT others(160): Show CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA CCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGG ATGTGGACACAGCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	223	0.0045	-167	c.911 others(17): Show c.911-2101_911-1935del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP5ME_chr4_667436_679276	669069	CATGCTGC others(160): Show CATGCTGCTCCCACTACCCCACGCTATTCCCCTACCCCATGCTGCTCCCA CTACCCCACGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCACGCTA TTCCCCTACCCCATGCTATTCCCGCTATGCCATGCTATTCCCGCTACCCC ATGCTATTCCCCTACCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02976.hp1 HG01167.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	394	0.0051	-167	c.32 others(11): Show c.3264_*3430del		ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding					3366		chr4	TogoVar
BTBD19_chr1_44803523_44820585	44816428	TTATATAT others(160): Show TTATATATACACATAGATGTGTGTGTATATTATATATACACATAGATGTG TGTGTATATTATATATACACATAGATGTGAGTATATTATATATACACATA GATGTGTGTATATTATATATACACATAGATGTGTGTATATATTATATATA CACATAGATGTGTGTGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02559.hp2 others(5): Show HG01884.hp1 HG02055.hp1 HG02559.hp2 HG02896.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0030 a0001c0001t0082 others(1): Show a0001c0001t0020 a0001c0001t0030 a0001c0001t0082 a0001c0001t0136	a0001c0001t0020g0007 a0001c0001t0030g0028 a0001c0001t0082g0007 others(1): Show a0001c0001t0020g0007 a0001c0001t0030g0028 a0001c0001t0082g0007 a0001c0001t0136g0007	8	436	0.0184	-167	c.26 others(11): Show c.2657_*2823del		BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding					844		chr1	TogoVar
C7orf50_chr7_992006_1143247	1116756	CGGACAGG others(160): Show CGGACAGGCTTCCATCACCAACGCCCATGCAGGATGATGACATCACTACA GATCTAGGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATG ACTGCAGCTCTACGGACCGGCTTCCATCACCGACGTCCACGCAGGATGAT GACATCACTGCAGTTCTA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03516.hp1 NA18961.hp2 HG03130.hp1 HG03516.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0008 a0001c0001t0019	a0001c0001t0008g0152 a0001c0001t0019g0324 a0001c0001t0019g0325 a0001c0001t0008g0152 a0001c0001t0019g0324 a0001c0001t0019g0325	3	326	0.0092	-167	c.129 others(19): Show c.129+10334_129+10500del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
CCDC38_chr12_95862048_95947614	95907477	ATGGGGCG others(160): Show ATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCCAGGCGGG GGACTGACACCCCCACCTCCCTCCCGGACGGGTGGCTGCCGGGCGGAGAC GCTCCTCACTTCCCAGAC	A A	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	350	0.0029	-167	c.305 others(17): Show c.305-1193_305-1027del		CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15						chr12	TogoVar
CDH12_chr5_21745673_22858344	22314952	TTTTTTTT others(160): Show TTTTTTTTTTTTTTTTTTTTGAGATGGAGTATCCCTCTGTCACCCAGGCT GGAGTGCAGTGGCGCGATCTAGGCTCACTGCAAGCTCCGCCTCCCAGGTT CATGCCATTCTCCTGCCTCCTGCCTCAGTAGCCAGGACTACAGGCGCCTG CCACCGTGCCTGCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0044 a0001c0001t0008g0044	1	60	0.0167	-167	c.-33 others(21): Show c.-333+90138_-333+90304del		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	3/14						chr5	TogoVar
CFAP46_chr10_132803392_132947570	132823609	CTGTGTGT others(160): Show CTGTGTGTGTGCTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCT GTGTGCGCTGATGTGTGCTGTGTGCTGATGTGTGCTGATGTGTGCTGTGT GCTGACGTGTGCTGTGTGCTGATGTGTGCTGTGTGCGCTGATGTGTGCTG TGTGTGTGCTGTGTGCTG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0130 a0010c0011t0001g0130	1	246	0.0041	-167	c.711 others(19): Show c.7118-8862_7118-8696del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57						chr10	TogoVar
CNTNAP2_chr7_146111801_148425998	147084208	CATATATG others(160): Show CATATATGCATAATGCTATATATGTATATATAATACATATATGCATAATG CTATATATGTATATATAATACATATATGCATAATGCTATATATGTATATA TAATCCATATATGCATAATGCTATATATGTATATATAATATATGCATAAT GCTATATATGTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp1 HG02630.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0004 a0001c0001t0001 a0001c0012t0004	a0001c0001t0001g0003 a0001c0012t0004g0026 a0001c0001t0001g0003 a0001c0012t0004g0026	2	40	0.0500	-167	c.551 others(19): Show c.551-23839_551-23673del		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTRL_chr9_121069955_121182610	121092516	ATATATAT others(160): Show ATATATATAATATATATCTATATATATTATATATATCTATATATATAATA TATATCTATATATATAATATATATCTATATATATAATATATATCTATATA TATTATATATATCTATATATATAATATATATCTATATATAATATATATCT ATATATATAATATATATC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02071.hp2 NA18952.hp2 others(2): Show HG00621.hp2 HG02071.hp2 NA18952.hp2 NA18971.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0050 a0002c0002t0001g0108 others(1): Show a0002c0002t0001g0007 a0002c0002t0001g0050 a0002c0002t0001g0108 a0002c0002t0001g0109	5	330	0.0152	-167	c.348 others(17): Show c.348+2120_349-2197del		CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL26A1_chr7_101357875_101564024	101425102	TTTGGCCA others(160): Show TTTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTATAACTTTGGGAGGC TCAGATGGGTGGATCACGAGGTCAGCAGTTCGAGACCAGCCTGCCCAACA TGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTG GCGGGTGCCTCTAATCCC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02698.hp1 HG01515.hp2 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0006 a0001c0012 a0002c0006	a0001c0012t0010 a0002c0006t0004 a0001c0012t0010 a0002c0006t0004	a0001c0012t0010g0002 a0002c0006t0004g0043 a0001c0012t0010g0002 a0002c0006t0004g0043	2	174	0.0115	-167	c.281 others(17): Show c.281+5004_281+5170del		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	2/12						chr7	TogoVar
COL4A2_chr13_110302284_110518209	110456968	CCGTGGGG others(160): Show CCGTGGGGCTCATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGG CTGATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCC CTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCATCT GCGTGGGACCCCAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00544.hp1 others(79): Show HG00140.hp1 HG00140.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG02015.hp2 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02738.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18955.hp2 NA18970.hp2 NA18988.hp2 NA18991.hp2 NA18992.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0002 a0003 a0004 others(8): Show a0002 a0003 a0004 a0007 a0009 a0010 a0011 a0016 a0019 a0021 a0027	a0002c0013 a0002c0063 a0002c0065 others(33): Show a0002c0013 a0002c0063 a0002c0065 a0002c0066 a0002c0110 a0003c0007 a0003c0010 a0003c0018 a0003c0026 a0003c0039 a0003c0067 a0003c0068 a0003c0069 a0003c0070 a0003c0071 a0003c0095 a0003c0116 a0003c0117 a0004c0009 a0004c0012 a0004c0030 a0004c0058 a0004c0081 a0004c0085 a0004c0089 a0007c0031 a0007c0059 a0007c0060 a0009c0057 a0009c0088 a0010c0036 a0011c0032 a0016c0048 a0019c0072 a0021c0053 a0027c0080	a0002c0013t0001 a0002c0013t0002 a0002c0013t0005 others(57): Show a0002c0013t0001 a0002c0013t0002 a0002c0013t0005 a0002c0063t0007 a0002c0065t0014 a0002c0066t0007 a0002c0110t0008 a0003c0007t0001 a0003c0007t0002 a0003c0007t0004 a0003c0007t0005 a0003c0007t0006 a0003c0007t0008 a0003c0007t0020 a0003c0007t0030 a0003c0007t0035 a0003c0007t0038 a0003c0010t0004 a0003c0010t0005 a0003c0010t0006 a0003c0010t0008 a0003c0018t0004 a0003c0018t0005 a0003c0018t0006 a0003c0026t0001 a0003c0039t0004 a0003c0067t0050 a0003c0068t0024 a0003c0069t0009 a0003c0070t0005 a0003c0071t0001 a0003c0095t0003 a0003c0116t0022 a0003c0117t0006 a0004c0009t0001 a0004c0009t0002 a0004c0009t0003 a0004c0012t0001 a0004c0012t0002 a0004c0012t0003 a0004c0012t0004 a0004c0012t0008 a0004c0030t0001 a0004c0058t0001 a0004c0081t0001 a0004c0085t0001 a0004c0089t0005 a0007c0031t0002 a0007c0031t0009 a0007c0059t0024 a0007c0060t0015 a0009c0057t0001 a0009c0088t0002 a0010c0036t0021 a0011c0032t0002 a0011c0032t0003 a0016c0048t0005 a0019c0072t0048 a0021c0053t0007 a0027c0080t0003	a0002c0013t0001g0044 a0002c0013t0002g0265 a0002c0013t0005g0036 others(78): Show a0002c0013t0001g0044 a0002c0013t0002g0265 a0002c0013t0005g0036 a0002c0063t0007g0147 a0002c0065t0014g0028 a0002c0066t0007g0181 a0002c0110t0008g0014 a0003c0007t0001g0031 a0003c0007t0002g0263 a0003c0007t0004g0347 a0003c0007t0005g0169 a0003c0007t0005g0221 a0003c0007t0005g0259 a0003c0007t0006g0119 a0003c0007t0008g0038 a0003c0007t0008g0186 a0003c0007t0020g0120 a0003c0007t0030g0352 a0003c0007t0035g0025 a0003c0007t0038g0019 a0003c0010t0004g0002 a0003c0010t0004g0268 a0003c0010t0004g0351 a0003c0010t0005g0218 a0003c0010t0006g0017 a0003c0010t0006g0018 a0003c0010t0006g0134 a0003c0010t0008g0010 a0003c0018t0004g0309 a0003c0018t0005g0116 a0003c0018t0005g0117 a0003c0018t0006g0121 a0003c0018t0006g0145 a0003c0026t0001g0032 a0003c0026t0001g0034 a0003c0026t0001g0112 a0003c0039t0004g0251 a0003c0067t0050g0151 a0003c0068t0024g0247 a0003c0069t0009g0008 a0003c0070t0005g0226 a0003c0071t0001g0209 a0003c0095t0003g0082 a0003c0116t0022g0367 a0003c0117t0006g0023 a0004c0009t0001g0111 a0004c0009t0001g0244 a0004c0009t0002g0289 a0004c0009t0002g0325 a0004c0009t0003g0055 a0004c0009t0003g0062 a0004c0009t0003g0078 a0004c0009t0003g0122 a0004c0009t0003g0128 a0004c0012t0001g0162 a0004c0012t0001g0199 a0004c0012t0002g0277 a0004c0012t0003g0077 a0004c0012t0004g0299 a0004c0012t0004g0307 a0004c0012t0008g0009 a0004c0030t0001g0113 a0004c0030t0001g0179 a0004c0058t0001g0183 a0004c0081t0001g0246 a0004c0085t0001g0200 a0004c0089t0005g0187 a0007c0031t0002g0364 a0007c0031t0009g0042 a0007c0059t0024g0252 a0007c0060t0015g0264 a0009c0057t0001g0234 a0009c0088t0002g0160 a0010c0036t0021g0319 a0010c0036t0021g0320 a0011c0032t0002g0302 a0011c0032t0003g0123 a0016c0048t0005g0206 a0019c0072t0048g0223 a0021c0053t0007g0241 a0027c0080t0003g0057	82	372	0.2204	-167	c.134 others(17): Show c.1340-365_1340-199del		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	20/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
DEFB1_chr8_6865592_6882936	6868670	CTTTTTTT others(160): Show CTTTTTTTTTTTTTTTTTTTTTGGACAGAGTCTTGCTCTGTTGCCCAGGC TGGAGTGCACTGGCACAATCATAGCTCACTGCAACCTCTGCCACCCGGGC TCAAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGC CCGCCACCAGGCCTGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02809.hp2 HG02055.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0121 a0001c0001t0001g0064 a0001c0001t0001g0121	2	478	0.0042	-167	c.18 others(11): Show c.1844_*2010del		DEFB1	ENSG00000164825.4	transcript	ENST00000297439.4	protein_coding					1921		chr8	TogoVar
DHRS12_chr13_51762993_51809163	51775528	TCTCCTAC others(160): Show TCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTC CTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATT CTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTA TTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02074.hp2 NA19009.hp2 others(1): Show HG02015.hp2 HG02074.hp2 NA19009.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0285 a0001c0001t0002g0305 others(1): Show a0001c0001t0002g0020 a0001c0001t0002g0285 a0001c0001t0002g0305 a0001c0001t0002g0307	4	420	0.0095	-167	c.363 others(17): Show c.363+1365_364-1495del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DLGAP2_chr8_732628_1713476	1692230	GGTACCGA others(160): Show GGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGA GGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGA GGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATA CGGCCCTGGTTTAAACGC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-167	c.279 others(17): Show c.2796+606_2796+772del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
EDDM13_chr19_56267748_56315454	56306311	GTACTAAG others(160): Show GTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGG CTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATG GGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCT CCCCTGTTGCCAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	396	0.0025	-167	c.461 others(17): Show c.461+1482_461+1648del		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14						chr19	TogoVar
EDDM13_chr19_56267748_56315454	56306366	CCCTGGCC others(160): Show CCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGA CTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCT GTTGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGAT AGCTACAAAGAGGCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	396	0.0025	-167	c.461 others(17): Show c.461+1539_461+1705del		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56306980	AAAGTACT others(160): Show AAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAG AGGGTCCCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAG ATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCC TCTCCCACGTCGCCAGAG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	396	0.0025	-167	c.461 others(17): Show c.461+2153_461+2319del		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr19	TogoVar

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