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 per page.

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
FREM2_chr13_38682077_38892131	38813498	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0050 a0050	a0050c0075 a0050c0075	a0050c0075t0003 a0050c0075t0003	a0050c0075t0003g0194 a0050c0075t0003g0194	1	262	0.0038	-28	c.601 others(49): Show c.6019+28691_6019+28718delTCTCTCTCTCTCTCTCTCTCCTCT CTCT		FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23						chr13	TogoVar
FRMD1_chr6_168048095_168084212	168078629	CAGCCTTG others(21): Show CAGCCTTGCTCACCCCCACGGCCACCCAG	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0028 a0001c0005t0028	a0001c0005t0028g0072 a0001c0005t0028g0072	1	402	0.0025	-28	c.213 others(43): Show c.213+225_213+252delCTGGGTGGCCGTGGGGGTGAGCAAGGCT		FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10						chr6	TogoVar
FRMD1_chr6_168048095_168084212	168078757	AGGCCATC others(21): Show AGGCCATCCAGGGCCCTGCTCACCCCCAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02257.hp2 HG02486.hp2 others(1): Show HG00323.hp2 HG02257.hp2 HG02486.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0023 a0002c0003t0063 a0002c0003t0007 a0002c0003t0023 a0002c0003t0063	a0002c0003t0007g0222 a0002c0003t0023g0223 a0002c0003t0023g0224 others(1): Show a0002c0003t0007g0222 a0002c0003t0023g0223 a0002c0003t0023g0224 a0002c0003t0063g0221	4	402	0.0100	-28	c.213 others(42): Show c.213+97_213+124delGTGGGGGTGAGCAGGGCCCTGGATGGCC		FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10						chr6	TogoVar
FRMD1_chr6_168048095_168084212	168078763	TCCAGGGC others(21): Show TCCAGGGCCCTGCTCACCCCCACGGCCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(252): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0012 a0001c0021 a0001c0024 a0002c0003 a0002c0011 a0003c0023 a0004c0008 a0005c0009 a0006c0013 a0007c0017 a0010c0020 a0011c0018 a0012c0016	a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 others(49): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0025 a0001c0002t0050 a0001c0002t0060 a0001c0002t0067 a0001c0004t0004 a0001c0004t0010 a0001c0004t0014 a0001c0004t0017 a0001c0004t0019 a0001c0004t0037 a0001c0004t0039 a0001c0004t0049 a0001c0004t0053 a0001c0004t0056 a0001c0004t0058 a0001c0004t0059 a0001c0005t0005 a0001c0012t0002 a0001c0012t0051 a0001c0021t0001 a0001c0024t0030 a0002c0003t0003 a0002c0011t0036 a0003c0023t0016 a0004c0008t0009 a0004c0008t0052 a0005c0009t0002 a0006c0013t0002 a0007c0017t0055 a0010c0020t0011 a0011c0018t0057 a0012c0016t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(137): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0011g0014 a0001c0001t0017g0111 a0001c0001t0018g0032 a0001c0001t0035g0098 a0001c0001t0040g0191 a0001c0001t0041g0151 a0001c0001t0042g0109 a0001c0001t0043g0197 a0001c0001t0044g0138 a0001c0001t0045g0108 a0001c0001t0046g0139 a0001c0001t0047g0148 a0001c0001t0048g0149 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0026 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0048 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0127 a0001c0002t0002g0130 a0001c0002t0002g0172 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0198 a0001c0002t0004g0122 a0001c0002t0004g0179 a0001c0002t0009g0012 a0001c0002t0009g0105 a0001c0002t0009g0128 a0001c0002t0020g0118 a0001c0002t0020g0125 a0001c0002t0021g0189 a0001c0002t0022g0046 a0001c0002t0025g0227 a0001c0002t0050g0121 a0001c0002t0060g0123 a0001c0002t0067g0228 a0001c0004t0004g0007 a0001c0004t0004g0023 a0001c0004t0004g0024 a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0112 a0001c0004t0004g0113 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0162 a0001c0004t0004g0164 a0001c0004t0004g0165 a0001c0004t0004g0169 a0001c0004t0004g0186 a0001c0004t0004g0196 a0001c0004t0010g0022 a0001c0004t0010g0043 a0001c0004t0010g0154 a0001c0004t0010g0155 a0001c0004t0014g0115 a0001c0004t0014g0170 a0001c0004t0014g0171 a0001c0004t0014g0199 a0001c0004t0017g0144 a0001c0004t0019g0124 a0001c0004t0019g0200 a0001c0004t0037g0188 a0001c0004t0039g0183 a0001c0004t0049g0166 a0001c0004t0053g0167 a0001c0004t0056g0168 a0001c0004t0058g0156 a0001c0004t0059g0161 a0001c0005t0005g0075 a0001c0012t0002g0044 a0001c0012t0051g0180 a0001c0021t0001g0104 a0001c0024t0030g0078 a0002c0003t0003g0205 a0002c0011t0036g0129 a0003c0023t0016g0187 a0004c0008t0009g0020 a0004c0008t0052g0126 a0005c0009t0002g0011 a0006c0013t0002g0045 a0007c0017t0055g0163 a0010c0020t0011g0150 a0011c0018t0057g0114 a0012c0016t0002g0178	255	402	0.6343	-28	c.213 others(42): Show c.213+91_213+118delGTGGCCGTGGGGGTGAGCAGGGCCCTGG		FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10						chr6	TogoVar
FRMD1_chr6_168048095_168084212	168078814	GGCCACCC others(21): Show GGCCACCCGGAGCCCTGCTCACCCCCACA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03225.hp2 HG02572.hp2 HG03225.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0013 a0003c0006t0013	a0003c0006t0013g0094 a0003c0006t0013g0095 a0003c0006t0013g0094 a0003c0006t0013g0095	2	402	0.0050	-28	c.213 others(41): Show c.213+40_213+67delTGTGGGGGTGAGCAGGGCTCCGGGTGGC		FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10						chr6	TogoVar
FRMD3_chr9_83239622_83543401	83357218	TATATATT others(21): Show TATATATTTTATATATATATAATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02145.hp1 HG00423.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0036 a0001c0001t0008 a0001c0001t0036	a0001c0001t0008g0054 a0001c0001t0036g0004 a0001c0001t0008g0054 a0001c0001t0036g0004	2	242	0.0083	-28	c.296 others(45): Show c.296-7489_296-7462delGTATGTATTATATATATATAAAATATAT		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	3/13						chr9	TogoVar
FRMD3_chr9_83239622_83543401	83357238	AATACATA others(21): Show AATACATACATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	242	0.0041	-28	c.296 others(45): Show c.296-7509_296-7482delATATATATATATATATATATGTATGTAT		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	3/13						chr9	TogoVar
FRMD3_chr9_83239622_83543401	83378830	TATATATA others(21): Show TATATATACTATATATAAATTTTATATAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp2 HG01884.hp2 others(10): Show HG01123.hp2 HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02258.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0038 a0001c0001t0039 a0001c0001t0056 a0001c0001t0057 a0001c0002t0003	a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0002g0143 others(10): Show a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0002g0143 a0001c0001t0010g0094 a0001c0001t0011g0093 a0001c0001t0013g0149 a0001c0001t0015g0160 a0001c0001t0015g0161 a0001c0001t0038g0091 a0001c0001t0039g0092 a0001c0001t0056g0162 a0001c0001t0057g0098 a0001c0002t0003g0010	13	242	0.0537	-28	c.253 others(45): Show c.253-5903_253-5876delTTATATAAAATTTATATATAGTATATAT		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	2/13						chr9	TogoVar
FRMD3_chr9_83239622_83543401	83479765	GGGAGGGA others(21): Show GGGAGGGAGGGAGGGAGGGAGGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp1 HG02818.hp1 others(3): Show HG02257.hp1 HG02647.hp1 HG02818.hp1 HG02976.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 others(3): Show a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0001t0027 a0001c0001t0058 a0001c0005t0008	a0001c0001t0008g0021 a0001c0001t0012g0147 a0001c0001t0018g0190 others(3): Show a0001c0001t0008g0021 a0001c0001t0012g0147 a0001c0001t0018g0190 a0001c0001t0027g0104 a0001c0001t0058g0164 a0001c0005t0008g0008	6	242	0.0248	-28	c.147 others(47): Show c.147+58292_147+58319delTTCCTTCCCTCCCTCCCTCCCTCCCT CC		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
FRMD3_chr9_83239622_83543401	83488972	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01071.hp2 HG02004.hp2 others(14): Show HG00423.hp1 HG01071.hp2 HG02004.hp2 HG02074.hp1 HG02129.hp1 HG03579.hp1 HG03942.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18960.hp1 NA18970.hp2 NA18980.hp2 NA18988.hp1 NA19005.hp2 NA19011.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0031 a0001c0002t0047	a0001c0001t0001g0136 a0001c0001t0001g0171 a0001c0001t0001g0173 others(14): Show a0001c0001t0001g0136 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0193 a0001c0001t0002g0132 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0004g0134 a0001c0001t0004g0168 a0001c0001t0004g0220 a0001c0001t0005g0130 a0001c0001t0005g0169 a0001c0001t0005g0204 a0001c0001t0008g0022 a0001c0001t0013g0167 a0001c0001t0031g0170 a0001c0002t0047g0039	17	242	0.0703	-28	c.147 others(47): Show c.147+49085_147+49112delCACACACACACACACACACACACACA CA		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13727894	CTCGAACA others(21): Show CTCGAACACTATTGCTGTAGCTTTCTTTA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG04184.hp2 NA18957.hp1 others(4): Show HG00408.hp1 HG04184.hp2 NA18957.hp1 NA18957.hp2 NA19007.hp1 NA19009.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0132 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0132 a0001c0001t0003g0104 a0001c0001t0004g0008 a0001c0001t0007g0107 a0001c0001t0011g0032	7	134	0.0522	-28	c.759 others(45): Show c.759+9922_759+9949delTAAAGAAAGCTACAGCAATAGTGTTCGA		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	12/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13867712	CATATAAT others(21): Show CATATAATATAATATATAATAAATAACAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	134	0.0075	-28	c.46- others(43): Show c.46-8828_46-8801delATGTTATTTATTATATATTATATTATAT		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14128035	CCTTTCTT others(21): Show CCTTTCTTTCCCTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0125 a0001c0001t0006g0125	1	134	0.0075	-28	c.45+ others(47): Show c.45+201995_45+202022delAAAGAAAGAAAGAAAGAGGGAAAGAA AG		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14128046	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01891.hp1 HG01891.hp2 others(6): Show HG00140.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02523.hp2 HG02970.hp2 HG03453.hp1 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0003t0018	a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0002g0004 others(6): Show a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0002g0004 a0001c0001t0004g0070 a0001c0001t0005g0119 a0001c0001t0008g0077 a0001c0001t0013g0040 a0001c0001t0016g0002 a0001c0003t0018g0011	9	134	0.0672	-28	c.45+ others(47): Show c.45+201984_45+202011delAAGAAAGAAAGAAAGAAAGAAAGAAA GA		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD4B_chr3_69163782_69391088	69267589	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03486.hp1 NA20129.hp2 HG01346.hp2 HG03486.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0012 a0001c0001 a0003c0012	a0001c0001t0010 a0001c0001t0043 a0003c0012t0012 a0001c0001t0010 a0001c0001t0043 a0003c0012t0012	a0001c0001t0010g0016 a0001c0001t0043g0185 a0003c0012t0012g0133 a0001c0001t0010g0016 a0001c0001t0043g0185 a0003c0012t0012g0133	3	224	0.0134	-28	c.502 others(47): Show c.502-17518_502-17491delTATATATATATATATATATATACACA CA		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22						chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267618	TATATATA others(21): Show TATATATATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0204 a0003c0003t0003g0204	1	224	0.0045	-28	c.502 others(47): Show c.502-17547_502-17520delCTCTCTCTCTATATATATATATATAT AT		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22						chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267624	TATATATA others(21): Show TATATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	224	0.0045	-28	c.502 others(47): Show c.502-17553_502-17526delCTCTCTCTCTCTCTCTATATATATAT AT		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22						chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69267626	TATATATA others(21): Show TATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0199 a0003c0003t0006g0199	1	224	0.0045	-28	c.502 others(47): Show c.502-17555_502-17528delCTCTCTCTCTCTCTCTCTATATATAT AT		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22						chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69323608	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG03195.hp2 others(1): Show HG02109.hp1 HG02257.hp1 HG03195.hp2 NA18906.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0007	a0002c0002 a0003c0012 a0005c0007 others(1): Show a0002c0002 a0003c0012 a0005c0007 a0007c0016	a0002c0002t0045 a0003c0012t0017 a0005c0007t0004 others(1): Show a0002c0002t0045 a0003c0012t0017 a0005c0007t0004 a0007c0016t0017	a0002c0002t0045g0188 a0003c0012t0017g0049 a0005c0007t0004g0050 others(1): Show a0002c0002t0045g0188 a0003c0012t0017g0049 a0005c0007t0004g0050 a0007c0016t0017g0003	4	224	0.0179	-28	c.163 others(47): Show c.163-10119_163-10092delTATATATATATATATATATATATATA TA		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22						chr3	TogoVar
FRMD5_chr15_43865764_44200271	44052562	AATCAAAA others(21): Show AATCAAAATATTGCTCAGGACACCCTGAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0008 a0001c0002t0016g0008	1	146	0.0069	-28	c.103 others(49): Show c.103-128281_103-128254delCTCAGGGTGTCCTGAGCAATATTT TGAT		FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13						chr15	TogoVar
FRMPD4_chrX_12133473_12729523	12331792	GTATATAA others(21): Show GTATATAAATTATATATATTTATATACTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00639.hp2 others(58): Show HG00140.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG02027.hp1 HG02056.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02293.hp2 HG02559.hp2 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03491.hp2 HG03654.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18960.hp1 NA18965.hp1 NA18975.hp1 NA18977.hp1 NA18984.hp1 NA18989.hp1 NA19000.hp1 NA19007.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19068.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0003 a0005c0019 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0006t0002 a0001c0008t0002 a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 a0005c0019t0001 a0007c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0057 others(58): Show a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0131 a0001c0001t0002g0011 a0001c0001t0002g0033 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0061 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0010g0163 a0001c0001t0011g0079 a0001c0002t0001g0070 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0114 a0001c0002t0001g0122 a0001c0002t0001g0125 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0167 a0001c0002t0002g0080 a0001c0002t0002g0129 a0001c0002t0002g0154 a0001c0002t0002g0158 a0001c0002t0002g0164 a0001c0006t0002g0161 a0001c0008t0002g0034 a0002c0003t0001g0055 a0002c0003t0003g0040 a0002c0003t0003g0041 a0002c0003t0003g0062 a0002c0003t0003g0074 a0002c0003t0003g0106 a0002c0003t0003g0152 a0002c0003t0005g0144 a0005c0019t0001g0130 a0007c0016t0001g0121	61	174	0.3506	-28	c.42- others(47): Show c.42-166794_42-166767delTATATATATTTATATACTATATATAA AT		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12331891	ATATTTAT others(21): Show ATATTTATATACTATATATAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0113 a0001c0001t0007g0113	1	174	0.0058	-28	c.42- others(47): Show c.42-166788_42-166761delTATTTATATACTATATATAAATATAT AT		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16						chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12331912	ATATATAT others(21): Show ATATATATATTTATATACTATATATAAAT	A A	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	174	0.0058	-28	c.42- others(47): Show c.42-166650_42-166623delATATTTATATACTATATATAAATTAT AT		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12720029	GGAAAGGA others(21): Show GGAAAGGAAAGGAAAGGAAAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG02922.hp2 others(2): Show HG01243.hp1 HG02647.hp1 HG02922.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0022 a0001c0001t0002g0054 a0001c0001t0002g0064 others(2): Show a0001c0001t0002g0022 a0001c0001t0002g0054 a0001c0001t0002g0064 a0001c0001t0002g0075 a0001c0001t0007g0113	5	174	0.0287	-28	c.396 others(45): Show c.3965-499_3965-472delGAAAGGAAAGGAAAGGAAAGAAAGAAAG		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	16/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRRS1_chr1_99698970_99771635	99770738	TGTGCCAA others(21): Show TGTGCCAAACCTCTATCAATTCCAGTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0084 a0001c0002t0016g0084	1	318	0.0031	-28	c.-42 others(39): Show c.-4265_-4238delCCCACTGGAATTGATAGAGGTTTGGCAC		FRRS1	ENSG00000156869.14	transcript	ENST00000646001.2	protein_coding					4104		chr1	TogoVar
FRS2_chr12_69465388_69584793	69536114	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	342	0.0029	-28	c.-12 others(47): Show c.-122+4059_-122+4086delTTTTTTTTTTTTTTTTTTTTTTTTTT TG		FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	3/8						chr12	TogoVar
FRS2_chr12_69465388_69584793	69561294	ATTGAAGT others(21): Show ATTGAAGTTCAGAGTTGAAATTGTTGCAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02523.hp1 NA18942.hp1 HG02132.hp2 HG02523.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0034 a0001c0001t0003 a0001c0001t0034	a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0034g0025 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0034g0025	3	342	0.0088	-28	c.-12 others(45): Show c.-121-860_-121-833delCATTTGAAGTTCAGAGTTGAAATTGTTG		FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69571314	TTTAACAT others(21): Show TTTAACATGTTGCAAGAGATTATGCAAAA	T T	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0324 a0003c0003t0002g0324	1	342	0.0029	-28	c.294 others(35): Show c.294_321delTAACATGTTGCAAGAGATTATGCAAAAT	p.Phe others(4): Show p.Phe98fs	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	7/9	697/6768	294/1527	98/508		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRYL_chr4_48492357_48785279	48506615	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18987.hp1 NA18999.hp2 others(1): Show NA18957.hp2 NA18987.hp1 NA18999.hp2 NA19065.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0030 a0001c0001 a0016c0030	a0001c0001t0001 a0016c0030t0001 a0001c0001t0001 a0016c0030t0001	a0001c0001t0001g0121 a0001c0001t0001g0143 a0001c0001t0001g0146 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0143 a0001c0001t0001g0146 a0016c0030t0001g0137	4	282	0.0142	-28	c.839 others(47): Show c.8395-1028_8395-1001delATATATATATATATATATATATATAT AT		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	59/63						chr4	TogoVar
FRYL_chr4_48492357_48785279	48651289	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	282	0.0036	-28	c.-80 others(47): Show c.-80-16827_-80-16800delCACACACACACACACACACACACACA CA		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
FSD1L_chr9_105443034_105557433	105452669	GCCTTCCT others(21): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp1 HG03486.hp2 HG02723.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0312 a0001c0001t0011g0314 a0001c0001t0011g0315 a0001c0001t0011g0312 a0001c0001t0011g0314 a0001c0001t0011g0315	3	380	0.0079	-28	c.15+ others(43): Show c.15+4456_15+4483delCTTCCTTCCTTCCTTCCTTCCTTCCTTC		FSD1L	ENSG00000106701.13	transcript	ENST00000481272.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
FSHR_chr2_48957157_49159515	49021878	TATATATA others(21): Show TATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0145 a0003c0003t0001g0145	1	350	0.0029	-28	c.225 others(45): Show c.225-1746_225-1719delCTCTCTCTCTCTCTCTCTCTATATATAT		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49127870	TCTTCTTC others(21): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02647.hp1 HG02723.hp2 HG01074.hp2 HG02647.hp1 HG02723.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0003 a0002c0002t0001 a0003c0003t0003	a0002c0002t0001g0275 a0002c0002t0001g0279 a0003c0003t0003g0278 a0002c0002t0001g0275 a0002c0002t0001g0279 a0003c0003t0003g0278	3	350	0.0086	-28	c.152 others(47): Show c.152+26368_152+26395delGAAGAAGAAGAAGAAGAAGAAGAAGA AG		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9						chr2	TogoVar
FSTL5_chr4_161378897_162169000	161779759	TTATATAT others(21): Show TTATATATATATATATGTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02559.hp2 HG02965.hp2 HG01192.hp2 HG02559.hp2 HG02965.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0002 a0001c0002t0001 a0004c0006t0001 a0001c0001t0002 a0001c0002t0001 a0004c0006t0001	a0001c0001t0002g0007 a0001c0002t0001g0044 a0004c0006t0001g0040 a0001c0001t0002g0007 a0001c0002t0001g0044 a0004c0006t0001g0040	3	142	0.0211	-28	c.410 others(45): Show c.410-3713_410-3686delTATATATATATACATATATATATATATA		FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15						chr4	TogoVar
FTHL17_chrX_31066233_31077041	31067022	CACACACA others(21): Show CACACACATATGTGTATATACACACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG01175.hp2 others(18): Show HG00597.hp1 HG00609.hp1 HG01175.hp2 HG01361.hp1 HG01361.hp2 HG02155.hp2 HG02486.hp1 HG02735.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18988.hp1 NA19003.hp2 NA19065.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	21	336	0.0625	-28	c.43 others(39): Show c.4352_*4379delATGTGTGTGTATATACACATATGTGTGT		FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding					4210		chrX	TogoVar
FTHL17_chrX_31066233_31077041	31067076	CATACACA others(21): Show CATACACACATATGTGTATATACACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02074.hp1 NA18747.hp1 others(9): Show HG02015.hp1 HG02074.hp1 NA18747.hp1 NA18954.hp1 NA18954.hp2 NA18967.hp1 NA18968.hp1 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA19078.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	12	336	0.0357	-28	c.42 others(39): Show c.4298_*4325delATGTGTGTATATACACATATGTGTGTAT		FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding					4156		chrX	TogoVar
FTHL17_chrX_31066233_31077041	31067102	CATATACA others(21): Show CATATACACACATATACACACATATGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG01433.hp1 others(6): Show HG00099.hp1 HG00438.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG03017.hp1 NA18941.hp2 NA18966.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	9	336	0.0268	-28	c.42 others(39): Show c.4272_*4299delACACATATGTGTGTATATGTGTGTATAT		FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding					4130		chrX	TogoVar
FTHL17_chrX_31066233_31077041	31067130	TATATACA others(21): Show TATATACACACATATACACACATATGTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02148.hp1 HG02280.hp2 others(1): Show HG01106.hp1 HG02148.hp1 HG02280.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	4	336	0.0119	-28	c.42 others(39): Show c.4244_*4271delCCACATATGTGTGTATATGTGTGTATAT		FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding					4102		chrX	TogoVar
FUNDC1_chrX_44518639_44547859	44531284	ACGGCTTT others(21): Show ACGGCTTTCAGATGAAGATTCATGTTGGC	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	313	0.0032	-28	c.262 others(45): Show c.262-3947_262-3920delGCCAACATGAATCTTCATCTGAAAGCCG		FUNDC1	ENSG00000069509.6	transcript	ENST00000378045.5	protein_coding	3/4						chrX	TogoVar
FUT10_chr8_33365824_33478146	33380189	CTATATAT others(21): Show CTATATATATATACTATATATATATACTA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA19084.hp1 HG03831.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0178 a0002c0002t0002g0015 a0002c0002t0001g0178 a0002c0002t0002g0015	2	268	0.0075	-28	c.121 others(47): Show c.1213-7413_1213-7386delTAGTATATATATATAGTATATATATA TA		FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	4/4						chr8	TogoVar
FUT8_chr14_65407730_65749121	65576696	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(62): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02735.hp1 HG02738.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 NA18944.hp2 NA18955.hp2 NA18960.hp2 NA18963.hp2 NA18983.hp1 NA18986.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19011.hp1 NA19057.hp1 NA19065.hp2 NA19070.hp2 NA19080.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 a0001c0001 a0001c0006 a0001c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0006t0002 a0001c0008t0002	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0026 others(62): Show a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0004g0070 a0001c0001t0005g0025 a0001c0001t0005g0035 a0001c0001t0005g0042 a0001c0001t0005g0060 a0001c0001t0005g0067 a0001c0001t0005g0069 a0001c0001t0022g0029 a0001c0001t0023g0049 a0001c0001t0024g0072 a0001c0006t0002g0024 a0001c0006t0002g0038 a0001c0006t0002g0076 a0001c0006t0002g0077 a0001c0006t0002g0087 a0001c0008t0002g0050	65	374	0.1738	-28	c.203 others(47): Show c.203+14944_203+14971delTTTTTTTTTTTTTTTTTTTTTTTTTT TT		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65602341	TCTCACAC others(21): Show TCTCACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0151 a0001c0001t0017g0151	1	374	0.0027	-28	c.204 others(47): Show c.204-13635_204-13608delTCACACACACACACACACACACACAC AC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611195	ACACGCGC others(21): Show ACACGCGCGCGCGCGCGCGCGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 NA18906.hp2 HG02109.hp1 HG02451.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0346 a0001c0002t0001g0363 a0001c0002t0001g0104 a0001c0002t0001g0346 a0001c0002t0001g0363	3	374	0.0080	-28	c.204 others(45): Show c.204-4779_204-4752delGCGCGCGCGCGCGCGCGCGCGCGCGCAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611207	GCGCGCGC others(21): Show GCGCGCGCGCGCGCGCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	374	0.0027	-28	c.204 others(45): Show c.204-4769_204-4742delGCGCGCGCGCGCGCGCACACACACACAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611209	GCGCGCGC others(21): Show GCGCGCGCGCGCGCGCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 NA19089.hp1 HG01074.hp1 HG01243.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0214 a0001c0001t0002g0357 a0001c0001t0014g0099 a0001c0001t0002g0214 a0001c0001t0002g0357 a0001c0001t0014g0099	3	374	0.0080	-28	c.204 others(45): Show c.204-4767_204-4740delGCGCGCGCGCGCGCACACACACACACAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611211	GCGCGCGC others(21): Show GCGCGCGCGCGCGCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03927.hp2 HG01192.hp2 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0001 a0001c0001t0005 a0002c0003t0001	a0001c0001t0005g0256 a0002c0003t0001g0336 a0001c0001t0005g0256 a0002c0003t0001g0336	2	374	0.0054	-28	c.204 others(45): Show c.204-4765_204-4738delGCGCGCGCGCGCACACACACACACACAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611213	GCGCGCGC others(21): Show GCGCGCGCGCGCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	374	0.0027	-28	c.204 others(45): Show c.204-4763_204-4736delGCGCGCGCGCACACACACACACACACAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611217	GCGCGCGC others(21): Show GCGCGCGCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03579.hp2 HG02895.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0293 a0001c0002t0001g0294	2	374	0.0054	-28	c.204 others(45): Show c.204-4759_204-4732delGCGCGCACACACACACACACACACACAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65643665	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01891.hp1 HG02109.hp2 others(8): Show HG01433.hp1 HG01891.hp1 HG02109.hp2 HG02451.hp2 HG02630.hp1 HG02723.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG03540.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 others(8): Show a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0004c0009t0001g0369	11	374	0.0294	-28	c.597 others(47): Show c.597+14082_597+14109delACACACACACACACACACACACACAC AC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65677148	GTGTGCGC others(21): Show GTGTGCGCGCGCGCATGCGCGCGCACGTA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01884.hp1 HG02647.hp2 others(1): Show HG01168.hp1 HG01884.hp1 HG02647.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0095 a0001c0001t0002g0160 a0001c0001t0006g0159 others(1): Show a0001c0001t0002g0095 a0001c0001t0002g0160 a0001c0001t0006g0159 a0001c0001t0008g0284	4	374	0.0107	-28	c.835 others(45): Show c.835+7673_835+7700delCGCGCGCGCATGCGCGCGCACGTATGTG		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr14	TogoVar

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