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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AVEN_chr15_33861227_34044204	33899168	A A	AAAAACAG others(9): Show AAAAACAGCCCCCTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(151): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0006c0006 a0007c0005 a0009c0010 a0010c0011 a0011c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0002c0002t0001 a0003c0003t0003 a0004c0004t0001 a0005c0007t0003 a0006c0006t0002 a0007c0005t0007 a0009c0010t0001 a0010c0011t0001 a0011c0008t0001	a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 others(151): Show a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0056 a0001c0001t0002g0078 a0001c0001t0002g0093 a0001c0001t0002g0108 a0001c0001t0002g0172 a0001c0001t0002g0255 a0001c0001t0004g0205 a0001c0001t0005g0122 a0001c0001t0005g0146 a0001c0001t0005g0194 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0006g0030 a0001c0001t0006g0123 a0001c0001t0006g0126 a0001c0001t0006g0197 a0002c0002t0001g0051 a0002c0002t0001g0058 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0161 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0219 a0002c0002t0001g0233 a0002c0002t0001g0243 a0002c0002t0001g0257 a0002c0002t0001g0262 a0003c0003t0003g0001 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0008 a0003c0003t0003g0011 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0015 a0004c0004t0001g0016 a0004c0004t0001g0018 a0004c0004t0001g0019 a0005c0007t0003g0006 a0005c0007t0003g0009 a0005c0007t0003g0010 a0006c0006t0002g0061 a0006c0006t0002g0063 a0006c0006t0002g0234 a0007c0005t0007g0266 a0009c0010t0001g0022 a0010c0011t0001g0044 a0011c0008t0001g0017	154	266	0.5790	16	c.446 others(35): Show c.446-23174_446-23173insAAAAGGGGGCTGTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19068.hp2 NA18983.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0247 a0001c0001t0002g0249	2	266	0.0075	16	c.446 others(35): Show c.446-23481_446-23466dupAAAAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33904708	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	266	0.0038	16	c.446 others(35): Show c.446-28714_446-28713insGTGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33904710	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00609.hp2 others(10): Show HG00323.hp2 HG00408.hp1 HG00609.hp2 HG00735.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01978.hp1 HG02622.hp2 HG02897.hp2 NA19030.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0007c0005t0007	a0001c0001t0001g0035 a0001c0001t0001g0073 a0001c0001t0001g0097 others(10): Show a0001c0001t0001g0035 a0001c0001t0001g0073 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0054 a0001c0001t0002g0231 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0206 a0007c0005t0007g0266	13	266	0.0489	16	c.446 others(35): Show c.446-28716_446-28715insGTGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33932834	C C	CAAATAAA others(9): Show CAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(21): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG01070.hp1 HG01255.hp2 HG01515.hp1 HG02109.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02698.hp1 HG02886.hp1 HG03139.hp1 HG03540.hp1 HG04199.hp1 NA18747.hp1 NA18993.hp1 NA18993.hp2 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0003c0003t0003 a0004c0004t0001	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0039 others(21): Show a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0153 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0108 a0001c0001t0002g0244 a0001c0001t0002g0255 a0001c0001t0005g0124 a0002c0002t0001g0079 a0002c0002t0001g0246 a0003c0003t0003g0007 a0004c0004t0001g0016	24	266	0.0902	16	c.446 others(35): Show c.446-56840_446-56839insATTTATTTATTTATTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933491	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01978.hp2 HG02976.hp2 others(1): Show HG01884.hp1 HG01978.hp2 HG02976.hp2 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0001c0001t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0203 a0001c0001t0001g0226 a0001c0001t0005g0194 others(1): Show a0001c0001t0001g0203 a0001c0001t0001g0226 a0001c0001t0005g0194 a0002c0002t0001g0167	4	266	0.0150	16	c.446 others(35): Show c.446-57512_446-57497dupTGTGTGTGTGTGTGTG	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(9): Show CACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01515.hp2 NA18964.hp1 HG01109.hp1 HG01515.hp2 NA18964.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0001c0001t0001 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0074 a0002c0002t0001g0077 a0003c0003t0003g0008 a0001c0001t0001g0074 a0002c0002t0001g0077 a0003c0003t0003g0008	3	266	0.0113	16	c.446 others(35): Show c.446-57530_446-57529insCTGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(9): Show CACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0005 a0003c0003t0003g0005	1	266	0.0038	16	c.446 others(35): Show c.446-57530_446-57529insCTCTCTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA19072.hp2 HG02273.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0071 a0001c0001t0001g0072	2	372	0.0054	16	c.-20 others(31): Show c.-20+431_-20+446dupAAAAAAAAAAAAAAAA	AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19			chr12	TogoVar
AVL9_chr7_32490489_32593726	32503319	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0040 a0001c0004t0021 a0001c0004t0040	a0001c0004t0021g0160 a0001c0004t0040g0159 a0001c0004t0021g0160 a0001c0004t0040g0159	2	330	0.0061	16	c.93+ others(31): Show c.93+7531_93+7532insATATATATATATATAT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0248 a0001c0001t0113g0248	1	330	0.0030	16	c.93+ others(31): Show c.93+7566_93+7567insCACACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32556519	A A	AAATAAAT others(9): Show AAATAAATGAATGAATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00621.hp1 others(66): Show HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02622.hp2 HG02630.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp1 HG03704.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp1 NA19005.hp1 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0011 others(1): Show a0001c0001 a0001c0006 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0034 a0001c0001t0043 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0094 a0001c0001t0102 a0001c0001t0122 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0131 a0001c0001t0132 a0001c0001t0134 a0001c0006t0004 a0001c0006t0007 a0001c0011t0003 a0002c0003t0002	a0001c0001t0001g0012 a0001c0001t0001g0176 a0001c0001t0001g0177 others(66): Show a0001c0001t0001g0012 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0232 a0001c0001t0003g0179 a0001c0001t0003g0203 a0001c0001t0003g0228 a0001c0001t0003g0231 a0001c0001t0003g0236 a0001c0001t0004g0013 a0001c0001t0004g0023 a0001c0001t0004g0230 a0001c0001t0007g0015 a0001c0001t0007g0018 a0001c0001t0007g0031 a0001c0001t0007g0033 a0001c0001t0010g0268 a0001c0001t0017g0189 a0001c0001t0017g0219 a0001c0001t0018g0010 a0001c0001t0018g0016 a0001c0001t0018g0032 a0001c0001t0018g0035 a0001c0001t0018g0036 a0001c0001t0022g0112 a0001c0001t0034g0274 a0001c0001t0043g0261 a0001c0001t0047g0273 a0001c0001t0048g0224 a0001c0001t0049g0218 a0001c0001t0050g0046 a0001c0001t0050g0047 a0001c0001t0052g0215 a0001c0001t0052g0225 a0001c0001t0053g0184 a0001c0001t0053g0229 a0001c0001t0054g0190 a0001c0001t0055g0044 a0001c0001t0055g0045 a0001c0001t0056g0185 a0001c0001t0056g0199 a0001c0001t0057g0198 a0001c0001t0057g0222 a0001c0001t0059g0223 a0001c0001t0060g0034 a0001c0001t0061g0027 a0001c0001t0094g0175 a0001c0001t0102g0235 a0001c0001t0122g0196 a0001c0001t0126g0204 a0001c0001t0127g0026 a0001c0001t0128g0237 a0001c0001t0131g0226 a0001c0001t0132g0233 a0001c0001t0134g0039 a0001c0006t0004g0011 a0001c0006t0004g0043 a0001c0006t0007g0042 a0001c0011t0003g0020 a0002c0003t0002g0144	69	330	0.2091	16	c.609 others(33): Show c.609+1926_609+1927insAAATGAATGAATGAAT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32556519	A A	AAATGAAT others(9): Show AAATGAATGAATGAATG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02015.hp1 HG00423.hp2 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0140 a0001c0001t0003 a0001c0001t0140	a0001c0001t0003g0201 a0001c0001t0140g0202 a0001c0001t0003g0201 a0001c0001t0140g0202	2	330	0.0061	16	c.609 others(33): Show c.609+1933_609+1948dupATGAATGAATGAATGA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32566180	A A	ATCTTTTT others(9): Show ATCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp1 HG01258.hp2 others(9): Show HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01433.hp1 HG01517.hp2 HG01884.hp2 HG02723.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 NA19091.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0003c0005	a0001c0001t0003 a0001c0001t0024 a0001c0001t0028 others(8): Show a0001c0001t0003 a0001c0001t0024 a0001c0001t0028 a0001c0001t0036 a0001c0001t0078 a0001c0002t0143 a0001c0007t0016 a0001c0009t0037 a0001c0009t0068 a0003c0005t0023 a0003c0005t0062	a0001c0001t0003g0179 a0001c0001t0024g0288 a0001c0001t0028g0111 others(9): Show a0001c0001t0003g0179 a0001c0001t0024g0288 a0001c0001t0028g0111 a0001c0001t0036g0285 a0001c0001t0036g0286 a0001c0001t0078g0241 a0001c0002t0143g0195 a0001c0007t0016g0055 a0001c0009t0037g0312 a0001c0009t0068g0314 a0003c0005t0023g0321 a0003c0005t0062g0322	12	330	0.0364	16	c.121 others(35): Show c.1216-3839_1216-3838insCTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32572801	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0068 a0001c0009t0068	a0001c0009t0068g0314 a0001c0009t0068g0314	1	330	0.0030	16	c.135 others(33): Show c.1351-397_1351-382dupAAAAAAAAAAAAAAAA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579602	T T	TATAATAT others(9): Show TATAATATATTATATTA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp1 HG01517.hp2 others(3): Show HG01106.hp2 HG01433.hp1 HG01517.hp2 HG02145.hp1 HG02896.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0028 a0001c0001t0024 a0001c0001t0028	a0001c0001t0024g0284 a0001c0001t0024g0287 a0001c0001t0024g0288 others(3): Show a0001c0001t0024g0284 a0001c0001t0024g0287 a0001c0001t0024g0288 a0001c0001t0028g0111 a0001c0001t0028g0242 a0001c0001t0028g0267	6	330	0.0182	16	c.168 others(33): Show c.1689-617_1689-616insATAATATATTATATTA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15			chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp1 HG03225.hp2 others(4): Show HG02257.hp2 HG02723.hp1 HG03225.hp2 NA18995.hp2 NA19005.hp1 NA19007.hp2 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0002 a0004c0005t0001 a0001c0001t0001 a0002c0002t0002 a0004c0005t0001	a0001c0001t0001g0040 a0002c0002t0002g0097 a0002c0002t0002g0144 others(3): Show a0001c0001t0001g0040 a0002c0002t0002g0097 a0002c0002t0002g0144 a0002c0002t0002g0158 a0004c0005t0001g0244 a0004c0005t0001g0250	7	446	0.0157	16	c.287 others(31): Show c.287+723_287+738dupACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPR1A_chr12_63137759_63156201	63138005	T T	TCCTCCCT others(9): Show TCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0009 a0002c0007t0009	a0002c0007t0009g0067 a0002c0007t0009g0067	1	448	0.0022	16	c.93 others(27): Show c.9353_*9354insGAGGGAGGGAGGGAGG	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4753		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63138022	T T	TCTCCCTC others(9): Show TCTCCCTCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG03516.hp2 others(1): Show HG02965.hp2 HG02976.hp1 HG03516.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0024 a0001c0001t0008g0043 a0001c0001t0008g0091 a0001c0001t0008g0024 a0001c0001t0008g0043 a0001c0001t0008g0091	4	448	0.0089	16	c.93 others(27): Show c.9336_*9337insGGAGGGAGAGAGGGAG	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4736		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63138059	C C	CTCCCTCC others(9): Show CTCCCTCCCTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0018 a0001c0002t0012g0018	1	448	0.0022	16	c.92 others(27): Show c.9299_*9300insAGGAAGGAGGGAGGGA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		4699		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153316	G G	GTCTATCT others(9): Show GTCTATCTATCTATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 NA19006.hp2 NA19068.hp2 others(1): Show HG02071.hp2 NA19006.hp2 NA19068.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0037 a0001c0002t0001 a0001c0001t0002 a0001c0001t0037 a0001c0002t0001	a0001c0001t0002g0002 a0001c0001t0037g0098 a0001c0002t0001g0001 a0001c0001t0002g0002 a0001c0001t0037g0098 a0001c0002t0001g0001	4	448	0.0089	16	c.-24 others(27): Show c.-2481_-2480insTAGATAGATAGATAGA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2116		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153316	G G	GTCTGTCT others(9): Show GTCTGTCTATCTATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA19002.hp1 NA18986.hp2 NA19002.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0010 a0003c0004t0001g0010	2	448	0.0045	16	c.-24 others(27): Show c.-2481_-2480insTAGATAGATAGACAGA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2116		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153330	C C	CTATCTAT others(9): Show CTATCTATCTATCTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA18950.hp1 NA18993.hp1 others(1): Show HG03942.hp1 NA18950.hp1 NA18993.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	4	448	0.0089	16	c.-24 others(27): Show c.-2495_-2494insAATAGATAGATAGATA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2130		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63153334	C C	CTATCTAT others(9): Show CTATCTATCTATCTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01261.hp2 others(15): Show HG00639.hp2 HG01106.hp2 HG01261.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG03017.hp1 HG03654.hp1 NA18952.hp1 NA18974.hp1 NA18984.hp2 NA18995.hp1 NA18999.hp1 NA19043.hp1 NA19056.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0007	a0001c0001t0005 a0001c0001t0054 a0001c0002t0001 others(2): Show a0001c0001t0005 a0001c0001t0054 a0001c0002t0001 a0002c0003t0020 a0002c0007t0009	a0001c0001t0005g0009 a0001c0001t0005g0015 a0001c0001t0005g0028 others(5): Show a0001c0001t0005g0009 a0001c0001t0005g0015 a0001c0001t0005g0028 a0001c0001t0005g0053 a0001c0001t0054g0090 a0001c0002t0001g0001 a0002c0003t0020g0038 a0002c0007t0009g0067	18	448	0.0402	16	c.-24 others(27): Show c.-2499_-2498insAATAGATAGATAGATA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2134		chr12	TogoVar
AXDND1_chr1_179360971_179559735	179414411	C C	CTTTATTT others(9): Show CTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02135.hp2 NA18939.hp1 others(5): Show HG02040.hp2 HG02135.hp2 NA18939.hp1 NA18964.hp1 NA18965.hp1 NA18980.hp1 NA18998.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0109 a0001c0002t0001g0112 others(5): Show a0001c0002t0001g0082 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151	8	356	0.0225	16	c.123 others(35): Show c.1230+3157_1230+3172dupATTTATTTATTTATTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179417985	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0310 a0004c0005t0001g0310	1	356	0.0028	16	c.123 others(35): Show c.1230+6723_1230+6738dupATTTATTTATTTATTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179421035	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0076 a0001c0003t0001g0076	1	356	0.0028	16	c.123 others(35): Show c.1231-8438_1231-8423dupCCTTCCTTCCTTCCTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179438171	A A	AATAAATA others(9): Show AATAAATAAATAAATAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp2 HG02109.hp2 others(5): Show HG01099.hp1 HG02055.hp2 HG02109.hp2 HG02486.hp2 HG02559.hp2 HG02723.hp1 NA18906.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0001 a0001c0006 a0002c0001	a0001c0006t0001 a0002c0001t0001 a0001c0006t0001 a0002c0001t0001	a0001c0006t0001g0103 a0001c0006t0001g0162 a0001c0006t0001g0163 others(5): Show a0001c0006t0001g0103 a0001c0006t0001g0162 a0001c0006t0001g0163 a0001c0006t0001g0164 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199 a0002c0001t0001g0229	8	356	0.0225	16	c.156 others(35): Show c.1563+5840_1563+5841insAATACATAAATAAATA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	15/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179486138	A A	ACAAAAAA others(9): Show ACAAAAAAACAAAAAAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0333 a0002c0001t0001g0333	1	356	0.0028	16	c.209 others(35): Show c.2091+2917_2091+2918insCAAAAAAACAAAAAAC	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25			chr1	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAA others(9): Show AAAAAAAACAAAAAACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp1 others(66): Show HG00099.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00673.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02257.hp1 HG02523.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG03017.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18977.hp1 NA18980.hp2 NA18987.hp2 NA18989.hp2 NA18994.hp2 NA19005.hp2 NA19007.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19068.hp2 NA19088.hp1 NA20805.hp2 NA20905.hp2	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0016 a0017	a0002c0001 a0002c0020 a0002c0023 others(4): Show a0002c0001 a0002c0020 a0002c0023 a0004c0005 a0005c0008 a0016c0026 a0017c0027	a0002c0001t0001 a0002c0020t0001 a0002c0023t0001 others(4): Show a0002c0001t0001 a0002c0020t0001 a0002c0023t0001 a0004c0005t0001 a0005c0008t0001 a0016c0026t0001 a0017c0027t0001	a0002c0001t0001g0004 a0002c0001t0001g0156 a0002c0001t0001g0207 others(66): Show a0002c0001t0001g0004 a0002c0001t0001g0156 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0218 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0238 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0251 a0002c0001t0001g0255 a0002c0001t0001g0256 a0002c0001t0001g0257 a0002c0001t0001g0259 a0002c0001t0001g0261 a0002c0001t0001g0262 a0002c0001t0001g0264 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0332 a0002c0001t0001g0338 a0002c0001t0001g0339 a0002c0001t0001g0342 a0002c0001t0001g0343 a0002c0001t0001g0345 a0002c0001t0001g0346 a0002c0020t0001g0321 a0002c0023t0001g0185 a0002c0023t0001g0186 a0004c0005t0001g0299 a0004c0005t0001g0308 a0004c0005t0001g0309 a0005c0008t0001g0335 a0005c0008t0001g0350 a0005c0008t0001g0351 a0005c0008t0001g0353 a0005c0008t0001g0354 a0005c0008t0001g0355 a0005c0008t0001g0356 a0016c0026t0001g0348 a0017c0027t0001g0334	69	356	0.1938	16	c.209 others(35): Show c.2091+2920_2091+2921insAAAAACAAAAAACTAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	326370	A A	ATTATATA others(9): Show ATTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0232 a0001c0003t0003g0232	1	378	0.0027	16	c.879 others(35): Show c.879-11688_879-11687insATATATATATATATAA	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXL_chr19_41214223_41266766	41218782	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG01891.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0023 a0001c0001t0009 a0001c0002t0023	a0001c0001t0009g0285 a0001c0002t0023g0284 a0001c0001t0009g0285 a0001c0002t0023g0284	2	314	0.0064	16	c.-61 others(25): Show c.-611_-610insGTGTGTGTGTGTGTGT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding		440		chr19	TogoVar
AXL_chr19_41214223_41266766	41260298	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 HG03195.hp2 HG02280.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0055 a0001c0001t0043 a0001c0001t0055	a0001c0001t0043g0015 a0001c0001t0055g0156 a0001c0001t0043g0015 a0001c0001t0055g0156	2	314	0.0064	16	c.41 others(25): Show c.410_*425dupTTTTTTTTTTTTTTTT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20	426	INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GALNT2_chr1_235442190_235509452	235498843	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0089 a0001c0001t0012g0089	1	344	0.0029	16	c.113 others(33): Show c.113-4031_113-4016dupTTTTTTTTTTTTTTTT	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	1/11			chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167303644	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0035 a0001c0001t0021g0035	1	118	0.0085	16	c.-51 others(37): Show c.-511+10334_-511+10349dupCACACACACACACACA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167400166	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0088 a0001c0001t0017g0088	1	118	0.0085	16	c.-51 others(37): Show c.-510-89999_-510-89984dupGTGTGTGTGTGTGTGT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167435433	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	118	0.0085	16	c.-51 others(37): Show c.-510-54730_-510-54715dupAAAAAAAAAAAAAAAA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167454196	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0092 a0001c0001t0010g0092	1	118	0.0085	16	c.-51 others(37): Show c.-510-35966_-510-35965insTGTGTGTGTGTGTGTG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39623233	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18612.hp2 NA18983.hp1 others(1): Show HG02074.hp1 NA18612.hp2 NA18983.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0002g0285 others(1): Show a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0002g0285 a0001c0001t0010g0258	4	336	0.0119	16	c.-39 others(37): Show c.-392+10169_-392+10170insTCCTTCCTTCCTTCCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39623237	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19066.hp2 HG02257.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0052 a0002c0002t0081 a0001c0001t0052 a0002c0002t0081	a0001c0001t0052g0186 a0002c0002t0081g0185 a0001c0001t0052g0186 a0002c0002t0081g0185	2	336	0.0060	16	c.-39 others(37): Show c.-392+10173_-392+10174insTCCTTCCTTCCTTCCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39623241	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0155 a0001c0001t0030g0155	1	336	0.0030	16	c.-39 others(37): Show c.-392+10210_-392+10225dupTCCTTCCTTCCTTCCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639346	C C	CTTTCTTT others(9): Show CTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG01884.hp2 HG01934.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0056 a0002c0002t0023 a0001c0001t0056 a0002c0002t0023	a0001c0001t0056g0316 a0002c0002t0023g0037 a0001c0001t0056g0316 a0002c0002t0023g0037	2	336	0.0060	16	c.-39 others(35): Show c.-391-7042_-391-7041insTTTCTTTCTTTTTTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639347	T T	TTTCTTTC others(9): Show TTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20905.hp1 NA19030.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0014 a0003c0005t0104 a0001c0001t0014 a0003c0005t0104	a0001c0001t0014g0323 a0003c0005t0104g0048 a0001c0001t0014g0323 a0003c0005t0104g0048	2	336	0.0060	16	c.-39 others(35): Show c.-391-7042_-391-7041insTTTCCTTCCTTCCTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639347	T T	TTTCTTTC others(9): Show TTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp1 NA19088.hp1 HG00639.hp2 HG02280.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0030 a0001c0001t0013g0222 a0001c0001t0013g0276 a0001c0001t0002g0030 a0001c0001t0013g0222 a0001c0001t0013g0276	3	336	0.0089	16	c.-39 others(35): Show c.-391-7042_-391-7041insTTTCTTTCCTTCCTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639347	T T	TTTCTTTC others(9): Show TTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01981.hp2 HG02074.hp1 others(1): Show HG01255.hp1 HG01981.hp2 HG02074.hp1 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0092 a0002c0002t0095 a0001c0001t0001 a0002c0002t0092 a0002c0002t0095	a0001c0001t0001g0259 a0001c0001t0001g0298 a0002c0002t0092g0160 others(1): Show a0001c0001t0001g0259 a0001c0001t0001g0298 a0002c0002t0092g0160 a0002c0002t0095g0304	4	336	0.0119	16	c.-39 others(35): Show c.-391-7042_-391-7041insTTTCTTTCTTTCCTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639391	C C	CTTCCTTC others(9): Show CTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0317 a0001c0001t0008g0317	1	336	0.0030	16	c.-39 others(35): Show c.-391-6998_-391-6997insCTTCCTTCCTTCTTTC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639398	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0041	a0002c0002t0041g0190 a0002c0002t0041g0190	1	336	0.0030	16	c.-39 others(35): Show c.-391-6993_-391-6992insCTTTCTTTCTTTCTTT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639400	T T	TTCTCTTT others(9): Show TTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03942.hp1 HG03654.hp2 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0033 a0002c0002t0096 a0001c0001t0033 a0002c0002t0096	a0001c0001t0033g0169 a0002c0002t0096g0325 a0001c0001t0033g0169 a0002c0002t0096g0325	2	336	0.0060	16	c.-39 others(35): Show c.-391-6991_-391-6990insCTCTTTCTTTCTTTCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639400	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03471.hp2 HG03834.hp1 others(2): Show HG00642.hp1 HG03471.hp2 HG03834.hp1 HG03834.hp2 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0004	a0001c0001t0001g0165 a0001c0001t0002g0018 a0001c0001t0002g0286 others(2): Show a0001c0001t0001g0165 a0001c0001t0002g0018 a0001c0001t0002g0286 a0001c0001t0005g0175 a0002c0002t0004g0244	5	336	0.0149	16	c.-39 others(35): Show c.-391-6952_-391-6937dupCTTTCTTTCTTTCTTT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GALT5_chr21_39607940_39678137	39639462	T T	TTCTTTTT others(9): Show TTCTTTTTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0091 a0002c0002t0091	a0002c0002t0091g0171 a0002c0002t0091g0171	1	336	0.0030	16	c.-39 others(35): Show c.-391-6927_-391-6926insTTTTTTCTTTCTCTCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar

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