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
AUNIP_chr1_25829006_25864457	25843594	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	352	0.0028	-11	c.79- others(26): Show c.79-6051_79-6041delTTTTTTTTTTT		AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding	1/2						chr1	TogoVar
AUNIP_chr1_25829006_25864457	25862012	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG02451.hp1 others(9): Show HG01099.hp1 HG01167.hp1 HG02451.hp1 HG02622.hp1 HG02886.hp2 HG02896.hp2 HG03209.hp2 HG03453.hp2 NA18951.hp2 NA18999.hp1 NA19080.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0019 a0002c0002t0004 a0001c0001t0004 a0001c0001t0019 a0002c0002t0004	a0001c0001t0004g0009 a0001c0001t0004g0219 a0001c0001t0004g0220 others(5): Show a0001c0001t0004g0009 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0019g0221 a0002c0002t0004g0011 a0002c0002t0004g0071 a0002c0002t0004g0072 a0002c0002t0004g0073	12	352	0.0341	-11	c.-26 others(22): Show c.-2666_-2656delTTTTTTTTTTT		AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding					2556		chr1	TogoVar
AURKA_chr20_56364390_56397215	56378741	GATGAATC others(4): Show GATGAATCTTCA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02257.hp2 HG02451.hp1 others(6): Show HG01175.hp1 HG02257.hp2 HG02451.hp1 HG02717.hp2 HG02970.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0052 a0001c0001t0002g0183 a0001c0001t0002g0188 others(5): Show a0001c0001t0002g0052 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0243 a0001c0001t0002g0261 a0001c0001t0004g0187 a0001c0001t0004g0195 a0001c0001t0005g0016	9	384	0.0234	-11	c.705 others(28): Show c.705+2681_705+2691delTGAAGATTCAT		AURKA	ENSG00000087586.18	transcript	ENST00000395915.8	protein_coding	6/8						chr20	TogoVar
AURKB_chr17_8199734_8215575	8203228	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	428	0.0023	-11	c.16 others(22): Show c.1632_*1642delTTTTTTTTTTT		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding					1505		chr17	TogoVar
AUTS2_chr7_69593475_70798506	69759408	AGTTTTGA others(4): Show AGTTTTGACTGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp1 HG03540.hp1 HG02257.hp1 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0004 a0001c0008t0017 a0001c0001t0002 a0001c0001t0004 a0001c0008t0017	a0001c0001t0002g0047 a0001c0001t0004g0048 a0001c0008t0017g0046 a0001c0001t0002g0047 a0001c0001t0004g0048 a0001c0008t0017g0046	3	76	0.0395	-11	c.310 others(32): Show c.310-139867_310-139857delTGTTTTGACTG		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69806197	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	76	0.0132	-11	c.310 others(30): Show c.310-93068_310-93058delTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69850398	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03453.hp1 HG02622.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0061 a0002c0002t0001g0057 a0001c0001t0003g0061 a0002c0002t0001g0057	2	76	0.0263	-11	c.310 others(30): Show c.310-48861_310-48851delAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876342	AAAAAAAA others(4): Show AAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0029 a0001c0001t0020g0029	1	76	0.0132	-11	c.310 others(30): Show c.310-22942_310-22932delAAAAAAATATA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876344	AAAAAAAT others(4): Show AAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	76	0.0132	-11	c.310 others(30): Show c.310-22940_310-22930delAAAAATATATA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876346	AAAAATAT others(4): Show AAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02165.hp2 NA18612.hp2 HG01081.hp1 HG02165.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0022g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0022g0032	3	76	0.0395	-11	c.310 others(30): Show c.310-22938_310-22928delAAATATATATA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70043594	TTCCTTCC others(4): Show TTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp2 HG02258.hp1 others(8): Show HG01081.hp2 HG01175.hp2 HG02258.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG03041.hp1 HG03139.hp2 HG03516.hp2 HG03579.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002	a0001c0001t0005 a0001c0001t0018 a0001c0001t0028 others(7): Show a0001c0001t0005 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0008 a0001c0005t0030 a0002c0002t0026	a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0018g0003 others(8): Show a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0018g0003 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0008g0039 a0001c0005t0030g0013 a0002c0002t0026g0011	11	76	0.1447	-11	c.523 others(30): Show c.523-74536_523-74526delCCTTCCTTCCT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70117116	TGTTTTTT others(4): Show TGTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	76	0.0132	-11	c.523 others(28): Show c.523-1015_523-1005delGTTTTTTTTTG		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18						chr7	TogoVar
AUTS2_chr7_69593475_70798506	70162445	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0017 a0002c0002t0036g0017	1	76	0.0132	-11	c.660 others(30): Show c.660+27899_660+27909delAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70712193	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03225.hp1 HG03139.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0036 a0001c0001t0002 a0002c0002t0036	a0001c0001t0002g0047 a0002c0002t0036g0017 a0001c0001t0002g0047 a0002c0002t0036g0017	2	76	0.0263	-11	c.742 others(30): Show c.742+13597_742+13607delTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70716636	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0025 a0001c0004t0013g0025	1	76	0.0132	-11	c.742 others(30): Show c.742+18035_742+18045delAAAAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70796445	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0060 a0001c0001t0021g0060	1	76	0.0132	-11	c.54 others(22): Show c.5450_*5460delTTTTTTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding					2940		chr7	TogoVar
AVEN_chr15_33861227_34044204	33873089	CTTTTCTT others(4): Show CTTTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01192.hp2 HG02602.hp1 others(3): Show HG01069.hp2 HG01192.hp2 HG02602.hp1 NA18957.hp2 NA18968.hp1 NA18979.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0003 a0001c0001t0002 a0003c0003t0003	a0001c0001t0002g0046 a0001c0001t0002g0076 a0001c0001t0002g0117 others(3): Show a0001c0001t0002g0046 a0001c0001t0002g0076 a0001c0001t0002g0117 a0003c0003t0003g0001 a0003c0003t0003g0013 a0003c0003t0003g0014	6	266	0.0226	-11	c.517 others(28): Show c.517-2070_517-2060delAAAAAAGAAAA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	3/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33894812	AAAAAAAA others(4): Show AAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	266	0.0038	-11	c.446 others(30): Show c.446-18828_446-18818delATTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33894821	AATAATAA others(4): Show AATAATAACAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19240.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011	a0001c0001 a0001c0012 a0002c0002 others(7): Show a0001c0001 a0001c0012 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0006c0006 a0008c0009 a0010c0011 a0011c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0012t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0003 a0004c0004t0001 a0005c0007t0003 a0006c0006t0002 a0008c0009t0002 a0010c0011t0001 a0011c0008t0001	a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0033 others(181): Show a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0108 a0001c0001t0002g0172 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0192 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0012t0001g0164 a0002c0002t0001g0051 a0002c0002t0001g0058 a0002c0002t0001g0062 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0219 a0002c0002t0001g0233 a0002c0002t0001g0239 a0002c0002t0001g0245 a0002c0002t0001g0257 a0002c0002t0001g0262 a0003c0003t0001g0263 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0011 a0003c0003t0003g0012 a0003c0003t0003g0015 a0004c0004t0001g0018 a0004c0004t0001g0019 a0005c0007t0003g0006 a0005c0007t0003g0009 a0005c0007t0003g0010 a0006c0006t0002g0061 a0006c0006t0002g0063 a0006c0006t0002g0234 a0008c0009t0002g0021 a0010c0011t0001g0044 a0011c0008t0001g0017	184	266	0.6917	-11	c.446 others(30): Show c.446-18837_446-18827delATTGTTATTAT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33931349	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02258.hp2 HG02280.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0001 a0007c0005t0007 a0001c0001t0001 a0007c0005t0007	a0001c0001t0001g0137 a0007c0005t0007g0264 a0001c0001t0001g0137 a0007c0005t0007g0264	2	266	0.0075	-11	c.446 others(30): Show c.446-55365_446-55355delAAAAAAAAAAA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33962919	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp1 NA18906.hp2 HG02451.hp2 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0153 a0001c0001t0001g0204 a0001c0001t0001g0210	3	266	0.0113	-11	c.445 others(30): Show c.445+40102_445+40112delTTTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	33968099	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0015 a0003c0003t0003g0015	1	266	0.0038	-11	c.445 others(30): Show c.445+34922_445+34932delTTTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	34024472	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(52): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00741.hp2 HG01109.hp2 HG01943.hp1 HG01978.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp2 HG02132.hp1 HG02300.hp1 HG02559.hp2 HG02622.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03492.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA18964.hp2 NA18968.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18992.hp2 NA18993.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp2 NA19082.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0006c0006t0002	a0001c0001t0001g0037 a0001c0001t0001g0121 a0001c0001t0001g0151 others(52): Show a0001c0001t0001g0037 a0001c0001t0001g0121 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0005g0217 a0001c0001t0005g0218 a0002c0002t0001g0219 a0002c0002t0001g0233 a0002c0002t0001g0239 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0257 a0006c0006t0002g0234	55	266	0.2068	-11	c.267 others(30): Show c.267+14297_267+14307delTTTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	1/5						chr15	TogoVar
AVIL_chr12_57792380_57823734	57811062	CGCTTCAC others(4): Show CGCTTCACGTCG	C C	frameshift_variant frameshift_variant	HIGH	NA19079.hp2 NA19079.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0104 a0005c0015t0001g0104	1	372	0.0027	-11	c.393 others(18): Show c.393_403delCGACGTGAAGC	p.Tyr others(5): Show p.Tyr131fs	AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	5/20	528/3087	393/2460	131/819			chr12	TogoVar
AVIL_chr12_57792380_57823734	57818182	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03239.hp2 HG03490.hp1 others(5): Show HG02735.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG04115.hp1 NA19030.hp1 NA19057.hp1 NA20905.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0001 a0010c0012t0001 a0001c0001t0001 a0010c0012t0001	a0001c0001t0001g0058 a0001c0001t0001g0223 a0001c0001t0001g0224 others(4): Show a0001c0001t0001g0058 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0010c0012t0001g0222	8	372	0.0215	-11	c.-20 others(26): Show c.-20+436_-20+446delAAAAAAAAAAA		AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19						chr12	TogoVar
AVL9_chr7_32490489_32593726	32540871	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19240.hp2 HG02280.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0057 a0001c0004t0087 a0001c0001t0057 a0001c0004t0087	a0001c0001t0057g0222 a0001c0004t0087g0324 a0001c0001t0057g0222 a0001c0004t0087g0324	2	330	0.0061	-11	c.94- others(26): Show c.94-2235_94-2225delTTTTTTTTTTT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32545364	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02723.hp1 others(4): Show HG02258.hp2 HG02451.hp2 HG02723.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0135 a0001c0001t0136 others(3): Show a0001c0001t0058 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0141	a0001c0001t0058g0298 a0001c0001t0058g0300 a0001c0001t0135g0297 others(4): Show a0001c0001t0058g0298 a0001c0001t0058g0300 a0001c0001t0135g0297 a0001c0001t0136g0299 a0001c0001t0137g0301 a0001c0001t0138g0296 a0001c0001t0141g0302	7	330	0.0212	-11	c.300 others(26): Show c.300+600_300+610delTTTTTTTTTTT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678684	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0105 a0002c0002t0002g0105	1	446	0.0022	-11	c.288 others(26): Show c.288-670_288-660delTTTTTTTTTTT		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678922	TGTGTGTG others(4): Show TGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19068.hp2 NA18981.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	446	0.0045	-11	c.287 others(26): Show c.287+686_287+696delCACACACACAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678924	TGTGTGTG others(4): Show TGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	446	0.0022	-11	c.287 others(26): Show c.287+684_287+694delCACACACACAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AVPR1B_chr1_206101936_206122388	206122047	TTTGTGTG others(4): Show TTTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	-11	c.-51 others(22): Show c.-5168_-5158delCACACACACAA		AVPR1B	ENSG00000198049.7	transcript	ENST00000367126.5	protein_coding					4660		chr1	TogoVar
AXDND1_chr1_179360971_179559735	179449988	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02257.hp1 others(11): Show HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG03486.hp1 HG03540.hp1 NA18906.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0001 others(1): Show a0001c0002 a0001c0006 a0002c0001 a0002c0023	a0001c0002t0001 a0001c0006t0001 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0006t0001 a0002c0001t0001 a0002c0023t0001	a0001c0002t0001g0147 a0001c0002t0001g0248 a0001c0006t0001g0103 others(11): Show a0001c0002t0001g0147 a0001c0002t0001g0248 a0001c0006t0001g0103 a0001c0006t0001g0163 a0001c0006t0001g0164 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199 a0002c0001t0001g0220 a0002c0001t0001g0224 a0002c0001t0001g0230 a0002c0001t0001g0259 a0002c0023t0001g0185 a0002c0023t0001g0186	14	356	0.0393	-11	c.179 others(30): Show c.1798+4807_1798+4817delTTTTTTTTTTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179466276	CTTCTTCT others(4): Show CTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02622.hp2 HG02630.hp1 others(4): Show HG01071.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02922.hp1 HG03225.hp2 NA19043.hp1	a0003 a0020 a0003 a0020	a0003c0004 a0020c0030 a0003c0004 a0020c0030	a0003c0004t0001 a0020c0030t0001 a0003c0004t0001 a0020c0030t0001	a0003c0004t0001g0173 a0003c0004t0001g0177 a0003c0004t0001g0179 others(4): Show a0003c0004t0001g0173 a0003c0004t0001g0177 a0003c0004t0001g0179 a0003c0004t0001g0180 a0003c0004t0001g0181 a0003c0004t0001g0182 a0020c0030t0001g0178	7	356	0.0197	-11	c.179 others(30): Show c.1799-2164_1799-2154delCTTCTTCTTTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488630	CTCTCCTT others(4): Show CTCTCCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0302 a0004c0005t0001g0302	1	356	0.0028	-11	c.209 others(30): Show c.2092-2904_2092-2894delCCTTTCTTTCT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488634	CCTTTCTT others(4): Show CCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG01168.hp2 others(13): Show HG00597.hp2 HG00621.hp2 HG01168.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01928.hp2 HG01981.hp1 NA18747.hp1 NA18945.hp2 NA18967.hp2 NA18971.hp1 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA20805.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0002c0022 a0005c0008 a0002c0001 a0002c0022 a0005c0008	a0002c0001t0001 a0002c0022t0001 a0005c0008t0001 a0002c0001t0001 a0002c0022t0001 a0005c0008t0001	a0002c0001t0001g0229 a0002c0001t0001g0242 a0002c0001t0001g0262 others(13): Show a0002c0001t0001g0229 a0002c0001t0001g0242 a0002c0001t0001g0262 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0324 a0002c0001t0001g0337 a0002c0001t0001g0340 a0002c0001t0001g0344 a0002c0022t0001g0061 a0005c0008t0001g0350 a0005c0008t0001g0351 a0005c0008t0001g0352 a0005c0008t0001g0353 a0005c0008t0001g0354 a0005c0008t0001g0355	16	356	0.0449	-11	c.209 others(30): Show c.2092-2903_2092-2893delCTTTCTTTCTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25						chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488680	TTTCTTTC others(4): Show TTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18906.hp1 HG01099.hp1 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0162 a0001c0006t0001g0164 a0001c0006t0001g0162 a0001c0006t0001g0164	2	356	0.0056	-11	c.209 others(30): Show c.2092-2855_2092-2845delCTTTCTTTCTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	285914	CCCCGCGG others(4): Show CCCCGCGGTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	378	0.0027	-11	c.21 others(22): Show c.2197_*2207delAGAACCGCGGG		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding					1525		chr16	TogoVar
AXIN1_chr16_282440_357723	285955	CCCCGCGG others(4): Show CCCCGCGGTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18984.hp1 NA19056.hp1 others(1): Show NA18947.hp1 NA18984.hp1 NA19056.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0146 a0001c0002t0001g0235 others(1): Show a0001c0002t0001g0122 a0001c0002t0001g0146 a0001c0002t0001g0235 a0001c0002t0001g0246	4	378	0.0106	-11	c.21 others(22): Show c.2156_*2166delAGAACCGCGGG		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding					1484		chr16	TogoVar
AXIN2_chr17_65523563_65566648	65538667	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18522.hp2 NA18949.hp2 others(2): Show HG02155.hp1 NA18522.hp2 NA18949.hp2 NA19005.hp1 NA19005.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0018 a0001c0005t0001 a0001c0003t0001 a0001c0003t0018 a0001c0005t0001	a0001c0003t0001g0203 a0001c0003t0001g0221 a0001c0003t0001g0234 others(2): Show a0001c0003t0001g0203 a0001c0003t0001g0221 a0001c0003t0001g0234 a0001c0003t0018g0313 a0001c0005t0001g0181	5	402	0.0124	-11	c.106 others(28): Show c.1060-335_1060-325delTTTTTTTTTTT		AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10						chr17	TogoVar
AXL_chr19_41214223_41266766	41217322	AGTGGGAG others(4): Show AGTGGGAGACAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	314	0.0032	-11	c.-20 others(22): Show c.-2070_-2060delGTGGGAGACAG		AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding					1900		chr19	TogoVar
AXL_chr19_41214223_41266766	41260298	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG01167.hp2 HG01169.hp2 others(36): Show HG00323.hp1 HG01167.hp2 HG01169.hp2 HG01361.hp1 HG01891.hp2 HG01928.hp1 HG02027.hp1 HG02055.hp1 HG02080.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02572.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG04204.hp1 NA18522.hp2 NA18944.hp2 NA18947.hp1 NA18952.hp1 NA18957.hp2 NA18966.hp1 NA18970.hp2 NA18977.hp1 NA18986.hp2 NA19030.hp2 NA19067.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0021 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0021 a0001c0001t0032	a0001c0001t0004g0014 a0001c0001t0004g0134 a0001c0001t0004g0139 others(32): Show a0001c0001t0004g0014 a0001c0001t0004g0134 a0001c0001t0004g0139 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0169 a0001c0001t0004g0207 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0265 a0001c0001t0004g0271 a0001c0001t0004g0281 a0001c0001t0008g0004 a0001c0001t0008g0007 a0001c0001t0008g0008 a0001c0001t0008g0017 a0001c0001t0008g0021 a0001c0001t0008g0024 a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0170 a0001c0001t0021g0042 a0001c0001t0021g0043 a0001c0001t0021g0044 a0001c0001t0021g0279 a0001c0001t0032g0163 a0001c0001t0032g0164 a0001c0001t0032g0288	39	314	0.1242	-11	c.41 others(20): Show c.415_*425delTTTTTTTTTTT		AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20				415	INFO_REALIGN_3_PRIME	chr19	TogoVar
AZIN1_chr8_102821308_102869163	102824957	GAATTGTT others(4): Show GAATTGTTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA19072.hp2 NA18975.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0288 a0001c0001t0008g0003 a0001c0001t0008g0288	2	380	0.0053	-11	c.35 others(22): Show c.3599_*3609delTCCCAACAATT		AZIN1	ENSG00000155096.15	transcript	ENST00000337198.10	protein_coding					1350		chr8	TogoVar
AZIN1_chr8_102821308_102869163	102848323	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	380	0.0026	-11	c.-95 others(28): Show c.-95-4587_-95-4577delTTTTTTTTTTT		AZIN1	ENSG00000155096.15	transcript	ENST00000337198.10	protein_coding	2/11						chr8	TogoVar
AZU1_chr19_822837_837018	833305	GAAGAAGA others(4): Show GAAGAAGAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0002 a0006c0017t0001g0002	1	391	0.0026	-11	c.14 others(22): Show c.1429_*1439delAAGAAGAAGAA		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1288		chr19	TogoVar
AZU1_chr19_822837_837018	836297	ACGGAAAA others(4): Show ACGGAAAAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	391	0.0026	-11	c.44 others(22): Show c.4421_*4431delCGGAAAAAGAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					4280		chr19	TogoVar
B3GALNT2_chr1_235442190_235509452	235474968	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19043.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0048 a0001c0001t0011 a0001c0001t0048	a0001c0001t0011g0213 a0001c0001t0048g0105 a0001c0001t0011g0213 a0001c0001t0048g0105	2	344	0.0058	-11	c.652 others(28): Show c.652-4019_652-4009delTATATATATAT		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11						chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235474972	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02723.hp1 others(3): Show HG02280.hp2 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG02970.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0034 a0001c0001t0010 a0001c0001t0034	a0001c0001t0010g0008 a0001c0001t0010g0010 a0001c0001t0010g0011 others(3): Show a0001c0001t0010g0008 a0001c0001t0010g0010 a0001c0001t0010g0011 a0001c0001t0010g0012 a0001c0001t0010g0017 a0001c0001t0034g0092	6	344	0.0174	-11	c.652 others(28): Show c.652-4023_652-4013delTATATATATAT		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11						chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235474974	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0009 a0001c0001t0033g0009	1	344	0.0029	-11	c.652 others(28): Show c.652-4025_652-4015delTATATATATAT		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11						chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235480905	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00597.hp2 others(101): Show HG00099.hp2 HG00597.hp1 HG00597.hp2 HG00733.hp1 HG00733.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01884.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 NA18939.hp2 NA18944.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(23): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0055 a0001c0001t0057 a0002c0003t0005 a0002c0003t0056 a0003c0004t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0014 others(99): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0004g0233 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0247 a0001c0001t0004g0252 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0005g0208 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0222 a0001c0001t0009g0018 a0001c0001t0009g0028 a0001c0001t0009g0030 a0001c0001t0009g0034 a0001c0001t0010g0010 a0001c0001t0010g0011 a0001c0001t0010g0017 a0001c0001t0010g0019 a0001c0001t0011g0212 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0012g0052 a0001c0001t0012g0053 a0001c0001t0012g0059 a0001c0001t0012g0084 a0001c0001t0019g0068 a0001c0001t0020g0099 a0001c0001t0021g0230 a0001c0001t0021g0231 a0001c0001t0022g0220 a0001c0001t0022g0255 a0001c0001t0023g0234 a0001c0001t0031g0016 a0001c0001t0032g0033 a0001c0001t0033g0009 a0001c0001t0034g0092 a0001c0001t0041g0229 a0001c0001t0043g0232 a0001c0001t0044g0242 a0001c0001t0046g0236 a0001c0001t0047g0101 a0001c0001t0055g0209 a0001c0001t0057g0223 a0002c0003t0005g0218 a0002c0003t0005g0219 a0002c0003t0005g0224 a0002c0003t0005g0225 a0002c0003t0005g0227 a0002c0003t0056g0226 a0003c0004t0002g0077	104	344	0.3023	-11	c.556 others(26): Show c.556-767_556-757delTTTTTTTTTTT		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	4/11						chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235498843	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01255.hp1 HG01261.hp2 others(12): Show HG00733.hp1 HG01255.hp1 HG01261.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02622.hp2 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03041.hp1 HG03453.hp1 HG04115.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0001c0001t0011 a0001c0001t0020 others(3): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0020 a0001c0001t0022 a0001c0001t0055 a0002c0003t0005	a0001c0001t0005g0208 a0001c0001t0005g0210 a0001c0001t0005g0211 others(12): Show a0001c0001t0005g0208 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0011g0212 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0011g0215 a0001c0001t0011g0216 a0001c0001t0011g0217 a0001c0001t0020g0099 a0001c0001t0020g0100 a0001c0001t0022g0220 a0001c0001t0055g0209 a0002c0003t0005g0218 a0002c0003t0005g0219	15	344	0.0436	-11	c.113 others(28): Show c.113-4026_113-4016delTTTTTTTTTTT		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	1/11						chr1	TogoVar

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