JoGo: Joint Open Genome and Omics Platform

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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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	status	chr	external
KRTAP5-8_chr11_71533025_71544209	71538486	C C	CCCAGTCC others(50): Show CCCAGTCCAGCTGCTGTAAGCCCTGCTGCTGCTCTTCAGGCTGTGGGTCA TCCTGCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG00408.hp2 HG00597.hp2 others(62): Show HG00408.hp1 HG00408.hp2 HG00597.hp2 HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01167.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01515.hp2 HG01884.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03516.hp2 HG04184.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18972.hp2 NA18977.hp2 NA18992.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19078.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0005c0013 a0003c0003 a0005c0006 a0005c0013	a0003c0003t0001 a0005c0006t0001 a0005c0013t0001 a0003c0003t0001 a0005c0006t0001 a0005c0013t0001	a0003c0003t0001g0000 a0005c0006t0001g0000 a0005c0013t0001g0000 a0003c0003t0001g0000 a0005c0006t0001g0000 a0005c0013t0001g0000	65	442	0.1471	57	c.447 others(64): Show c.447_503dupTAAGCCCTGCTGCTGCTCTTCAGGCTGTGGGTCATCCT GCTGCCAGTCCAGCTGCTG	p.Cys others(70): Show p.Cys168_Lys169insLysProCysCysCysSerSerGlyCysGlySe rSerCysCysGlnSerSerCysCys	KRTAP5-8	ENSG00000241233.4	transcript	ENST00000398534.4	protein_coding	1/1	535/1185	504/564	168/187	INFO_REALIGN_3_PRIME	chr11	TogoVar
KRTAP9-1_chr17_41184887_41195639	41189922	A A	ATGCTGCA others(8): Show ATGCTGCAGGACCACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp1 NA19043.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0000 a0007c0011t0000	a0007c0011t0000g0000 a0007c0011t0000g0000	1	460	0.0022	15	c.48_ others(20): Show c.48_62dupCACCTGCTGCAGGAC	p.Thr others(26): Show p.Thr21_Thr22insThrCysCysArgThr	KRTAP9-1	ENSG00000240542.6	transcript	ENST00000398470.1	protein_coding	1/1	63/753	63/753	21/250	INFO_REALIGN_3_PRIME	chr17	TogoVar
KRTAP9-4_chr17_41244687_41255653	41249756	A A	ATGCTGCA others(8): Show ATGCTGCAGGACCACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18974.hp1 NA18974.hp2 NA18974.hp1 NA18974.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	2	441	0.0045	15	c.57_ others(20): Show c.57_71dupCAGGACCACCTGCTG	p.Cys others(11): Show p.Cys19_Cys23dup	KRTAP9-4	ENSG00000241595.2	transcript	ENST00000334109.3	protein_coding	1/1	106/967	72/465	24/154	INFO_REALIGN_3_PRIME	chr17	TogoVar
KRTAP9-9_chr17_41250384_41261364	41255418	T T	TACCTGCT others(8): Show TACCTGCTGCAGGACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(265): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18976.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0005 a0007c0007 a0001c0001 a0005c0005 a0007c0007	a0001c0001t0001 a0001c0001t0005 a0005c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0005c0005t0001 a0007c0007t0001	a0001c0001t0001g0000 a0001c0001t0005g0000 a0005c0005t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0005g0000 a0005c0005t0001g0000 a0007c0007t0001g0000	268	415	0.6458	15	c.42_ others(20): Show c.42_56dupCAGGACCACCTGCTG	p.Cys others(11): Show p.Cys14_Cys18dup	KRTAP9-9	ENSG00000198083.9	transcript	ENST00000394008.1	protein_coding	1/1	59/981	57/510	19/169	INFO_REALIGN_3_PRIME	chr17	TogoVar
L1TD1_chr1_62189849_62217328	62206717	T T	TAACAGA TAACAGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01255.hp1 HG01891.hp1 HG02109.hp2 others(7): Show HG01255.hp1 HG01891.hp1 HG02109.hp2 HG02451.hp2 HG02622.hp2 HG02976.hp2 HG03209.hp1 HG03453.hp2 HG03579.hp2 NA20129.hp2	a0008 a0019 a0020 a0008 a0019 a0020	a0008c0009 a0008c0020 a0019c0019 others(1): Show a0008c0009 a0008c0020 a0019c0019 a0020c0018	a0008c0009t0010 a0008c0009t0024 a0008c0020t0027 others(2): Show a0008c0009t0010 a0008c0009t0024 a0008c0020t0027 a0019c0019t0001 a0020c0018t0023	a0008c0009t0010g0100 a0008c0009t0010g0102 a0008c0009t0010g0103 others(7): Show a0008c0009t0010g0100 a0008c0009t0010g0102 a0008c0009t0010g0103 a0008c0009t0010g0104 a0008c0009t0010g0105 a0008c0009t0010g0106 a0008c0009t0024g0101 a0008c0020t0027g0042 a0019c0019t0001g0036 a0020c0018t0023g0037	10	414	0.0242	6	c.93_ others(11): Show c.93_98dupAGAAAC	p.Thr others(17): Show p.Thr33_Asp34insGluThr	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	3/4	376/3831	99/2598	33/865	INFO_REALIGN_3_PRIME	chr1	TogoVar
LAG3_chr12_6767520_6783455	6778354	G G	GGAGCCC GGAGCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02818.hp1 HG02818.hp2 HG03516.hp1 others(2): Show HG02818.hp1 HG02818.hp2 HG03516.hp1 NA19030.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0101 a0003c0003t0001g0121 a0003c0003t0001g0155 others(2): Show a0003c0003t0001g0101 a0003c0003t0001g0121 a0003c0003t0001g0155 a0003c0003t0001g0167 a0003c0003t0003g0179	5	472	0.0106	6	c.156 others(15): Show c.1560_1565dupCGAGCC	p.Pro others(19): Show p.Pro522_Glu523insGluPro	LAG3	ENSG00000089692.9	transcript	ENST00000203629.3	protein_coding	8/8	1899/1976	1566/1578	522/525	INFO_REALIGN_3_PRIME	chr12	TogoVar
LATS2_chr13_20968036_21066586	20988343	C C	CGGGGCG CGGGGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(107): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02135.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02683.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03492.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18954.hp2 NA18959.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0008 a0012	a0001c0001 a0001c0010 a0001c0030 others(7): Show a0001c0001 a0001c0010 a0001c0030 a0001c0031 a0005c0012 a0005c0016 a0006c0011 a0008c0026 a0008c0033 a0012c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0034 a0001c0001t0037 a0001c0001t0043 a0001c0001t0047 a0001c0010t0001 a0001c0010t0015 a0001c0030t0001 a0001c0031t0006 a0005c0012t0001 a0005c0012t0002 a0005c0016t0005 a0005c0016t0014 a0006c0011t0001 a0008c0026t0011 a0008c0033t0001 a0012c0022t0004	a0001c0001t0001g0024 a0001c0001t0001g0090 a0001c0001t0001g0092 others(107): Show a0001c0001t0001g0024 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0166 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0201 a0001c0001t0002g0207 a0001c0001t0002g0218 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0003g0161 a0001c0001t0004g0276 a0001c0001t0006g0168 a0001c0001t0006g0184 a0001c0001t0006g0188 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0234 a0001c0001t0010g0099 a0001c0001t0010g0112 a0001c0001t0010g0162 a0001c0001t0010g0163 a0001c0001t0012g0165 a0001c0001t0013g0167 a0001c0001t0013g0189 a0001c0001t0013g0205 a0001c0001t0013g0206 a0001c0001t0017g0130 a0001c0001t0017g0131 a0001c0001t0022g0171 a0001c0001t0022g0174 a0001c0001t0027g0226 a0001c0001t0029g0193 a0001c0001t0034g0216 a0001c0001t0037g0186 a0001c0001t0043g0139 a0001c0001t0047g0100 a0001c0010t0001g0056 a0001c0010t0001g0061 a0001c0010t0001g0064 a0001c0010t0001g0074 a0001c0010t0015g0003 a0001c0030t0001g0091 a0001c0031t0006g0187 a0005c0012t0001g0033 a0005c0012t0002g0028 a0005c0012t0002g0030 a0005c0012t0002g0032 a0005c0016t0005g0235 a0005c0016t0014g0035 a0005c0016t0014g0036 a0006c0011t0001g0079 a0006c0011t0001g0080 a0006c0011t0001g0081 a0006c0011t0001g0082 a0006c0011t0001g0085 a0008c0026t0011g0286 a0008c0033t0001g0304 a0012c0022t0004g0007	110	316	0.3481	6	c.143 others(15): Show c.1431_1436dupCGCCCC	p.Pro others(19): Show p.Pro479_Ala480insAlaPro	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	4/8	1881/5546	1436/3267	479/1088		chr13	TogoVar
LATS2_chr13_20968036_21066586	20988343	C C	CGGGGCGG others(5): Show CGGGGCGGGGGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18984.hp2 NA18984.hp2	a0013 a0013	a0013c0029 a0013c0029	a0013c0029t0001 a0013c0029t0001	a0013c0029t0001g0243 a0013c0029t0001g0243	1	316	0.0032	12	c.142 others(21): Show c.1425_1436dupCGCCCCCGCCCC	p.Pro others(25): Show p.Pro479_Ala480insAlaProAlaPro	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	4/8	1881/5546	1436/3267	479/1088		chr13	TogoVar
LCE1F_chr1_152770140_152782024	152776522	T T	TGCTGTGG others(17): Show TGCTGTGGCTCCAGCTCTGGGGGAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp2 HG00738.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0001 a0007c0008t0001g0001	1	438	0.0023	24	c.173 others(31): Show c.173_174insAAGCTGTGGCTCCAGCTCTGGGGG	p.Gly others(35): Show p.Gly58_Cys59insSerCysGlySerSerSerGlyGly	LCE1F	ENSG00000240386.4	transcript	ENST00000334371.4	protein_coding	2/2	247/726	174/357	58/118	INFO_REALIGN_3_PRIME	chr1	TogoVar
LCE1F_chr1_152770140_152782024	152776532	C C	CCAGCTCT others(11): Show CCAGCTCTGGGGGCTGCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00544.hp2 HG00597.hp1 HG00621.hp1 others(35): Show HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp1 HG01516.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02132.hp1 HG02735.hp1 HG02818.hp2 HG03239.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp2 NA18942.hp1 NA18955.hp1 NA18955.hp2 NA18966.hp1 NA18980.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA19000.hp2 NA19006.hp1 NA19010.hp1 NA19054.hp2 NA19060.hp1 NA19090.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	38	438	0.0868	18	c.174 others(25): Show c.174_191dupCTGCTGCAGCTCTGGGGG	p.Gly others(29): Show p.Gly64_Gly65insCysCysSerSerGlyGly	LCE1F	ENSG00000240386.4	transcript	ENST00000334371.4	protein_coding	2/2	265/726	192/357	64/118	INFO_REALIGN_3_PRIME	chr1	TogoVar
LCE4A_chr1_152703160_152714434	152709204	C C	CAGCTCTG others(11): Show CAGCTCTGCGGGCTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18945.hp1 NA18945.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0001 a0008c0009t0001g0001	1	416	0.0024	18	c.136 others(25): Show c.136_137insCGGGCTGCTGTAGCTCTG	p.Ser others(29): Show p.Ser45_Gly46insAlaGlyCysCysSerSer	LCE4A	ENSG00000187170.6	transcript	ENST00000368777.2	protein_coding	2/2	393/615	137/300	46/99	INFO_REALIGN_3_PRIME	chr1	TogoVar
LCE4A_chr1_152703160_152714434	152709204	C C	CAGCTCTG others(11): Show CAGCTCTGGAGGCTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02630.hp2 HG02895.hp2 HG02897.hp2 HG02630.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0002 a0001c0007t0001g0002	3	416	0.0072	18	c.137 others(25): Show c.137_138insAGGCTGCTGTAGCTCTGG	p.Gly others(29): Show p.Gly46_Gly47insGlyCysCysSerSerGly	LCE4A	ENSG00000187170.6	transcript	ENST00000368777.2	protein_coding	2/2	394/615	138/300	46/99	INFO_REALIGN_3_PRIME	chr1	TogoVar
LCE4A_chr1_152703160_152714434	152709204	C C	CAGCTCTG others(11): Show CAGCTCTGGGGGCTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(288): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18976.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0009	a0001c0001 a0003c0004 a0004c0005 others(2): Show a0001c0001 a0003c0004 a0004c0005 a0005c0006 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0003c0004t0001 a0003c0004t0006 a0004c0005t0001 a0005c0006t0002 a0009c0011t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0003g0001 a0001c0001t0004g0001 a0001c0001t0005g0001 a0001c0001t0007g0001 a0003c0004t0001g0001 a0003c0004t0001g0002 a0003c0004t0001g0003 a0003c0004t0006g0001 a0004c0005t0001g0001 a0005c0006t0002g0001 a0009c0011t0008g0004	291	416	0.6995	18	c.143 others(25): Show c.143_144insCTGTAGCTCTGGGGGCTG	p.Cys others(29): Show p.Cys48_Gly49insCysSerSerGlyGlyCys	LCE4A	ENSG00000187170.6	transcript	ENST00000368777.2	protein_coding	2/2	400/615	144/300	48/99	INFO_REALIGN_3_PRIME	chr1	TogoVar
LCE4A_chr1_152703160_152714434	152709213	G G	GGGCTGCT others(11): Show GGGCTGCTGTAGCTCTGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG00558.hp2 HG00609.hp1 others(27): Show HG00423.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG01928.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp2 HG02148.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03927.hp1 NA18612.hp2 NA18941.hp2 NA18951.hp2 NA18957.hp2 NA18963.hp2 NA18984.hp2 NA18986.hp1 NA18999.hp1 NA19054.hp1 NA19060.hp2 NA19063.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp2 NA19075.hp2 NA19079.hp2 NA19087.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0001	30	416	0.0721	18	c.143 others(25): Show c.143_144insCTGTAGCTCTGGCGGCTG	p.Cys others(29): Show p.Cys48_Gly49insCysSerSerGlyGlyCys	LCE4A	ENSG00000187170.6	transcript	ENST00000368777.2	protein_coding	2/2	400/615	144/300	48/99	INFO_REALIGN_3_PRIME	chr1	TogoVar
LIAT1_chr17_405325_419666	413442	T T	TGGCCCTC others(23): Show TGGCCCTCAAGGGCTTCCACCCCGACCCCGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00639.hp1 HG01099.hp1 HG01952.hp1 others(18): Show HG00639.hp1 HG01099.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02717.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG04184.hp2 NA18522.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0005 a0006 a0035 a0005 a0006 a0035	a0005c0005 a0006c0007 a0006c0033 others(1): Show a0005c0005 a0006c0007 a0006c0033 a0035c0042	a0005c0005t0001 a0006c0007t0001 a0006c0033t0001 others(1): Show a0005c0005t0001 a0006c0007t0001 a0006c0033t0001 a0035c0042t0001	a0005c0005t0001g0006 a0006c0007t0001g0004 a0006c0007t0001g0017 others(4): Show a0005c0005t0001g0006 a0006c0007t0001g0004 a0006c0007t0001g0017 a0006c0007t0001g0026 a0006c0007t0001g0033 a0006c0033t0001g0004 a0035c0042t0001g0011	21	434	0.0484	30	c.630 others(37): Show c.630_659dupGGCCCTCAAGGGCTTCCACCCCGACCCCGA	p.Glu others(13): Show p.Glu210_Pro219dup	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	678/1841	660/1272	220/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LIAT1_chr17_405325_419666	413442	T T	TGGCCCTC others(53): Show TGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCAC CCCGACCCCGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00621.hp2 HG02015.hp1 HG02071.hp2 others(42): Show HG00621.hp2 HG02015.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03453.hp2 HG03491.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18962.hp2 NA18967.hp2 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA19003.hp1 NA19010.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19091.hp1	a0004 a0023 a0004 a0023	a0004c0004 a0023c0044 a0004c0004 a0023c0044	a0004c0004t0001 a0023c0044t0001 a0004c0004t0001 a0023c0044t0001	a0004c0004t0001g0004 a0004c0004t0001g0011 a0004c0004t0001g0018 others(5): Show a0004c0004t0001g0004 a0004c0004t0001g0011 a0004c0004t0001g0018 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0025 a0023c0044t0001g0004	45	434	0.1037	60	c.600 others(67): Show c.600_659dupGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCA AGGGCTTCCACCCCGACCCCGA	p.Pro others(73): Show p.Pro219_Asp220insGluAlaLeuLysGlyPheHisProAspProGl uAlaLeuLysGlyPheHisProAspPro	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	678/1841	660/1272	220/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LIAT1_chr17_405325_419666	413621	G G	GAGGCCCT others(113): Show GAGGCCCTCAAGGGTTTCCACACTGACCCCGAGGCCCTCAAGGGTTTCCA CACTGACCCCGAGGCCCTCAAGGGTTTCCACCCCGACCCCAAGGCCCTCA AGGGCTTCCACCCCGACCCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01993.hp2 NA19011.hp1 NA19058.hp2 HG01993.hp2 NA19011.hp1 NA19058.hp2	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0003 a0015c0017t0001g0003	3	434	0.0069	120	c.791 others(127): Show c.791_792insTTTCCACACTGACCCCGAGGCCCTCAAGGGTTTCCACA CTGACCCCGAGGCCCTCAAGGGTTTCCACCCCGACCCCAAGGCCCTCAAG GGCTTCCACCCCGACCCCAAGGCCCTCAAGGG	p.Gly others(133): Show p.Gly264_Phe265insPheHisThrAspProGluAlaLeuLysGlyPh eHisThrAspProGluAlaLeuLysGlyPheHisProAspProLysAlaL euLysGlyPheHisProAspProLysAlaLeuLysGly	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	810/1841	792/1272	264/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LIPJ_chr10_88581762_88611976	88596714	A A	ATAGTGAA others(71): Show ATAGTGAATTACCACAACATTTCTTTAGCACTTATTGTGGTCATCCAAAT GTGGATAAAATAAATTTATTTTACAGGCT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	410	0.0024	78	c.577 others(88): Show c.577-74_580dupAGTGAATTACCACAACATTTCTTTAGCACTTATTG TGGTCATCCAAATGTGGATAAAATAAATTTATTTTACAGGCTT	p.Ala others(91): Show p.Ala193_Phe194insTerTerIleThrThrThrPheLeuTerHisLe uLeuTrpSerSerLysCysGlyTerAsnLysPheIleLeuGlnAla	LIPJ	ENSG00000204022.9	transcript	ENST00000371939.7	protein_coding	8/11	895/1484	581/1101	194/366	INFO_REALIGN_3_PRIME	chr10	TogoVar
LNP1_chr3_100396539_100461319	100451756	A A	ATCCTAGA others(50): Show ATCCTAGAAGGCATTCTCATGAGGACCAGGAATTCCGATGCCGATCGTCT GACCGTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(204): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01516.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19072.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0004t0004	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(187): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0365 a0001c0001t0002g0371 a0001c0001t0002g0375 a0001c0001t0003g0099 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0005g0074 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0006g0013 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0007g0307 a0001c0004t0004g0203	207	398	0.5201	57	c.221 others(64): Show c.221_222insGGAATTCCGATGCCGATCGTCTGACCGTCTTCCTAGAA GGCATTCTCATGAGGACCA	p.Gln others(68): Show p.Gln74_Glu75insGluPheArgCysArgSerSerAspArgLeuProA rgArgHisSerHisGluAspGln	LNP1	ENSG00000206535.8	transcript	ENST00000383693.8	protein_coding	3/4	1156/1864	222/537	74/178	INFO_REALIGN_3_PRIME	chr3	TogoVar
LOC112267897_chr13_63741741_63753176	63746826	C C	CCTGTGGC others(17): Show CCTGTGGCTATGGCTCCAGCTATGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(338): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.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 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0012 a0013 others(4): Show a0001 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0013 a0012c0015 others(5): Show a0001c0001 a0001c0013 a0012c0015 a0013c0014 a0014c0010 a0015c0011 a0016c0012 a0017c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0022 a0001c0013t0001 a0012c0015t0001 a0013c0014t0001 a0014c0010t0001 a0015c0011t0001 a0016c0012t0001 a0017c0009t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 others(13): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0008g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0014g0000 a0001c0001t0022g0000 a0001c0013t0001g0000 a0012c0015t0001g0000 a0013c0014t0001g0000 a0014c0010t0001g0000 a0015c0011t0001g0000 a0016c0012t0001g0000 a0017c0009t0001g0000	341	426	0.8005	24	c.42_ others(29): Show c.42_65dupCAGCTATGGCTGTGGCTATGGCTC	p.Ser others(35): Show p.Ser22_Gly23insSerTyrGlyCysGlyTyrGlySer	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding	1/1	126/1436	66/390	22/129	INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC112267897_chr13_63741741_63753176	63746826	C C	CCTGTGGC others(41): Show CCTGTGGCTATGGCTCCAGCTATGGCTGTGGCTATGGCTCTGGTTATGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02896.hp1 HG02897.hp2 HG02976.hp2 others(3): Show HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03471.hp2 NA19030.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0009 a0006c0006t0009	a0006c0006t0009g0000 a0006c0006t0009g0000	6	426	0.0141	48	c.29_ others(53): Show c.29_76dupGTGGCTATGGCTCCAGCTATGGCTGTGGCTATGGCTCTGG TTATGGCT	p.Cys others(11): Show p.Cys10_Gly25dup	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding	1/1	137/1436	77/390	26/129	INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC112267897_chr13_63741741_63753176	63746853	G G	GTGGCTAT others(35): Show GTGGCTATGGCTCCAGCTATGGCTGTGGCTATGGCTCTGGTTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03225.hp2 HG03225.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0019 a0011c0016t0019	a0011c0016t0019g0000 a0011c0016t0019g0000	1	426	0.0024	42	c.65_ others(47): Show c.65_66insCAGCTATGGCTGTGGCTATGGCTCTGGTTATGGCTATGGC TC	p.Ser others(53): Show p.Ser22_Gly23insSerTyrGlyCysGlyTyrGlySerGlyTyrGlyT yrGlySer	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding	1/1	126/1436	66/390	22/129	INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC112267897_chr13_63741741_63753176	63746933	G G	GGCTCCAG others(29): Show GGCTCCAGCTATGGCTGTGGCTATGGAACTGGCTACA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03579.hp2 HG03579.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0009 a0009c0019t0009	a0009c0019t0009g0000 a0009c0019t0009g0000	1	426	0.0024	36	c.136 others(43): Show c.136_137insCCAGCTATGGCTGTGGCTATGGAACTGGCTACAGCT	p.Gly others(47): Show p.Gly45_Cys46insSerSerTyrGlyCysGlyTyrGlyThrGlyTyrS er	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding	1/1	197/1436	137/390	46/129	INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC647264_chr13_63827361_63838053	63832829	G G	GCCAGAGC others(41): Show GCCAGAGCCATAGCCACAGCCATAGCTGGAGCCATAGCCACAGCCATAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02630.hp2 HG02970.hp1 HG03041.hp1 others(2): Show HG02630.hp2 HG02970.hp1 HG03041.hp1 HG06807.hp1 NA19240.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0000 a0004c0005t0005g0000	5	442	0.0113	48	c.117 others(55): Show c.117_164dupTTATGGCTGTGGCTATGGCTCCAGCTATGGCTGTGGCT ATGGCTCTGG	p.Gly others(59): Show p.Gly55_Tyr56insTyrGlyCysGlyTyrGlySerSerTyrGlyCysG lyTyrGlySerGly	LOC647264	ENSG00000285566.2	transcript	ENST00000648713.2	protein_coding	1/1	224/693	164/330	55/109		chr13	TogoVar
LOC647264_chr13_63827361_63838053	63832835	G G	GCCATAGC others(17): Show GCCATAGCCACAGCTGTAGCCAGTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00609.hp1 HG00609.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0000 a0006c0009t0001g0000	1	442	0.0023	24	c.158 others(31): Show c.158_159insAACTGGCTACAGCTGTGGCTATGG	p.Gly others(35): Show p.Gly53_Ser54insThrGlyTyrSerCysGlyTyrGly	LOC647264	ENSG00000285566.2	transcript	ENST00000648713.2	protein_coding	1/1	218/693	158/330	53/109		chr13	TogoVar
LOC647264_chr13_63827361_63838053	63832901	G G	GCCACAGC others(53): Show GCCACAGCTGTAGCCAGTTCCATAGCCACAGCCATAGCTGGAGCCATAGC CATAGCCATAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00609.hp1 HG00609.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0000 a0006c0009t0001g0000	1	442	0.0023	60	c.92_ others(65): Show c.92_93insTTATGGCTATGGCTATGGCTCCAGCTATGGCTGTGGCTAT GGAACTGGCTACAGCTGTGG	p.Ser others(71): Show p.Ser31_Tyr32insTyrGlyTyrGlyTyrGlySerSerTyrGlyCysG lyTyrGlyThrGlyTyrSerCysGly	LOC647264	ENSG00000285566.2	transcript	ENST00000648713.2	protein_coding	1/1	152/693	92/330	31/109		chr13	TogoVar
LORICRIN_chr1_153254687_153267124	153261012	C C	CGGCGGT CGGCGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00639.hp1 HG00738.hp1 others(45): Show HG00099.hp1 HG00639.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18951.hp2 NA18978.hp1 NA19001.hp2 NA19003.hp2 NA19030.hp2 NA19060.hp2 NA19074.hp1 NA19083.hp1 NA19091.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0004 a0010 a0004 a0010	a0004c0004 a0010c0018 a0004c0004 a0010c0018	a0004c0004t0001 a0010c0018t0001 a0004c0004t0001 a0010c0018t0001	a0004c0004t0001g0001 a0004c0004t0001g0009 a0010c0018t0001g0001 a0004c0004t0001g0001 a0004c0004t0001g0009 a0010c0018t0001g0001	48	422	0.1137	6	c.75_ others(11): Show c.75_80dupTGGCGG	p.Gly others(11): Show p.Gly26_Gly27dup	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding	2/2	151/1245	81/939	27/312	INFO_REALIGN_3_PRIME	chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153261012	C C	CGGCGGTG others(5): Show CGGCGGTGGCGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03139.hp1 HG03139.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0001 a0009c0019t0001	a0009c0019t0001g0001 a0009c0019t0001g0001	1	422	0.0024	12	c.69_ others(17): Show c.69_80dupTGGCGGTGGCGG	p.Gly others(11): Show p.Gly24_Gly27dup	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding	2/2	151/1245	81/939	27/312	INFO_REALIGN_3_PRIME	chr1	TogoVar
LRIG3_chr12_58867155_58925504	58874080	C C	CGACGCTG others(5): Show CGACGCTGGCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19078.hp1 NA19078.hp1	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0002 a0011c0025t0002	a0011c0025t0002g0182 a0011c0025t0002g0182	1	278	0.0036	12	c.307 others(21): Show c.3078_3089dupAGAGCCAGCGTC	p.Ser others(27): Show p.Ser1030_Val1031insGluProAlaSer	LRIG3	ENSG00000139263.12	transcript	ENST00000320743.8	protein_coding	18/19	3358/4046	3089/3360	1030/1119		chr12	TogoVar
LRRC43_chr12_122178123_122208471	122192827	T T	TTGAAGAG others(5): Show TTGAAGAGGTTAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02647.hp2 HG02976.hp1 HG03486.hp2 HG02647.hp2 HG02976.hp1 HG03486.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0128 a0008c0013t0001g0144 a0008c0013t0001g0236 a0008c0013t0001g0128 a0008c0013t0001g0144 a0008c0013t0001g0236	3	390	0.0077	12	c.118 others(21): Show c.1182_1193dupTACTGAAGAGGT	p.Val others(25): Show p.Val398_Glu399insThrGluGluVal	LRRC43	ENSG00000158113.13	transcript	ENST00000339777.5	protein_coding	7/12	1216/2022	1194/1971	398/656	INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRK1_chr15_100914357_101083257	101051741	C C	CACTCATG others(8): Show CACTCATGGAGCAGTA	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	NA18977.hp1 NA18977.hp1	a0011 a0011	a0011c0116 a0011c0116	a0011c0116t0069 a0011c0116t0069	a0011c0116t0069g0262 a0011c0116t0069g0262	1	338	0.0030	15	c.347 others(24): Show c.3471_3485dupACTCATGGAGCAGTA	p.Gln others(30): Show p.Gln1161_Tyr1162insTerLeuMetGluGln	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	24/34	3703/15674	3486/6048	1162/2015	INFO_REALIGN_3_PRIME	chr15	TogoVar
LSR_chr19_35244002_35272964	35267372	G G	GGGA GGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19059.hp1 NA19060.hp2 NA19063.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(3): Show a0002 a0003 a0005 a0007 a0009 a0010	a0002c0001 a0002c0006 a0002c0013 others(8): Show a0002c0001 a0002c0006 a0002c0013 a0002c0014 a0003c0003 a0003c0012 a0003c0018 a0005c0009 a0007c0015 a0009c0019 a0010c0010	a0002c0001t0001 a0002c0006t0001 a0002c0013t0001 others(9): Show a0002c0001t0001 a0002c0006t0001 a0002c0013t0001 a0002c0014t0001 a0003c0003t0001 a0003c0003t0003 a0003c0012t0001 a0003c0018t0001 a0005c0009t0001 a0007c0015t0001 a0009c0019t0001 a0010c0010t0001	a0002c0001t0001g0001 a0002c0001t0001g0006 a0002c0001t0001g0010 others(130): Show a0002c0001t0001g0001 a0002c0001t0001g0006 a0002c0001t0001g0010 a0002c0001t0001g0013 a0002c0001t0001g0015 a0002c0001t0001g0017 a0002c0001t0001g0019 a0002c0001t0001g0025 a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0040 a0002c0001t0001g0041 a0002c0001t0001g0044 a0002c0001t0001g0052 a0002c0001t0001g0053 a0002c0001t0001g0054 a0002c0001t0001g0055 a0002c0001t0001g0056 a0002c0001t0001g0057 a0002c0001t0001g0058 a0002c0001t0001g0064 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0111 a0002c0001t0001g0112 a0002c0001t0001g0113 a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0134 a0002c0001t0001g0171 a0002c0001t0001g0183 a0002c0001t0001g0184 a0002c0001t0001g0185 a0002c0001t0001g0186 a0002c0001t0001g0187 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0196 a0002c0001t0001g0197 a0002c0001t0001g0198 a0002c0001t0001g0200 a0002c0001t0001g0201 a0002c0001t0001g0202 a0002c0001t0001g0204 a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0006t0001g0020 a0002c0006t0001g0021 a0002c0006t0001g0050 a0002c0006t0001g0063 a0002c0006t0001g0065 a0002c0006t0001g0078 a0002c0006t0001g0098 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0124 a0002c0013t0001g0019 a0002c0014t0001g0182 a0003c0003t0001g0005 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0016 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0132 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0165 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0214 a0003c0003t0003g0157 a0003c0012t0001g0205 a0003c0018t0001g0139 a0005c0009t0001g0061 a0007c0015t0001g0012 a0009c0019t0001g0010 a0010c0010t0001g0125	244	438	0.5571	3	c.141 others(12): Show c.1410_1412dupGAG	p.Arg others(6): Show p.Arg471dup	LSR	ENSG00000105699.17	transcript	ENST00000605618.6	protein_coding	9/10	1434/1932	1413/1806	471/601	INFO_REALIGN_3_PRIME	chr19	TogoVar
LTF_chr3_46430645_46469905	46459794	C C	CCTT CCTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024	a0001c0001 a0001c0002 a0001c0007 others(51): Show a0001c0001 a0001c0002 a0001c0007 a0001c0011 a0001c0014 a0001c0019 a0001c0020 a0001c0021 a0001c0030 a0001c0034 a0001c0054 a0002c0003 a0002c0006 a0002c0036 a0002c0042 a0003c0004 a0003c0038 a0003c0041 a0004c0010 a0004c0012 a0004c0015 a0004c0016 a0004c0023 a0004c0024 a0004c0046 a0004c0047 a0004c0048 a0004c0056 a0005c0005 a0005c0025 a0006c0009 a0006c0013 a0006c0022 a0006c0029 a0006c0031 a0006c0033 a0006c0055 a0007c0008 a0008c0018 a0009c0017 a0011c0035 a0012c0037 a0013c0040 a0014c0039 a0015c0043 a0016c0044 a0017c0045 a0018c0049 a0019c0050 a0020c0051 a0021c0027 a0022c0032 a0023c0028 a0024c0026	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(58): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0007t0001 a0001c0007t0003 a0001c0007t0005 a0001c0011t0001 a0001c0014t0001 a0001c0019t0001 a0001c0019t0003 a0001c0020t0001 a0001c0021t0001 a0001c0030t0001 a0001c0034t0001 a0001c0054t0001 a0002c0003t0001 a0002c0006t0001 a0002c0036t0001 a0002c0042t0001 a0003c0004t0001 a0003c0004t0002 a0003c0038t0002 a0003c0041t0002 a0004c0010t0001 a0004c0010t0006 a0004c0012t0001 a0004c0015t0001 a0004c0016t0001 a0004c0016t0003 a0004c0023t0001 a0004c0024t0001 a0004c0046t0001 a0004c0047t0001 a0004c0048t0001 a0004c0056t0001 a0005c0005t0002 a0005c0025t0002 a0006c0009t0002 a0006c0013t0002 a0006c0022t0002 a0006c0029t0002 a0006c0031t0002 a0006c0033t0002 a0006c0055t0004 a0007c0008t0001 a0008c0018t0001 a0009c0017t0001 a0011c0035t0002 a0012c0037t0002 a0013c0040t0001 a0014c0039t0001 a0015c0043t0001 a0016c0044t0002 a0017c0045t0002 a0018c0049t0001 a0019c0050t0007 a0020c0051t0001 a0021c0027t0003 a0022c0032t0003 a0023c0028t0001 a0024c0026t0003	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(282): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0172 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0174 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0215 a0001c0002t0001g0283 a0001c0002t0003g0044 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0187 a0001c0002t0003g0190 a0001c0002t0003g0192 a0001c0002t0003g0194 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0199 a0001c0002t0003g0203 a0001c0002t0003g0204 a0001c0002t0003g0205 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0007t0001g0025 a0001c0007t0001g0052 a0001c0007t0001g0053 a0001c0007t0001g0054 a0001c0007t0001g0220 a0001c0007t0001g0224 a0001c0007t0001g0227 a0001c0007t0001g0231 a0001c0007t0003g0026 a0001c0007t0003g0223 a0001c0007t0003g0228 a0001c0007t0005g0226 a0001c0011t0001g0013 a0001c0011t0001g0042 a0001c0011t0001g0184 a0001c0011t0001g0185 a0001c0011t0001g0186 a0001c0014t0001g0023 a0001c0014t0001g0173 a0001c0014t0001g0206 a0001c0019t0001g0284 a0001c0019t0003g0229 a0001c0020t0001g0267 a0001c0020t0001g0268 a0001c0021t0001g0221 a0001c0021t0001g0230 a0001c0030t0001g0171 a0001c0034t0001g0262 a0001c0054t0001g0078 a0002c0003t0001g0010 a0002c0003t0001g0012 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0021 a0002c0003t0001g0030 a0002c0003t0001g0032 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0097 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0108 a0002c0003t0001g0110 a0002c0003t0001g0111 a0002c0003t0001g0117 a0002c0003t0001g0121 a0002c0003t0001g0126 a0002c0003t0001g0133 a0002c0003t0001g0140 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0285 a0002c0006t0001g0004 a0002c0006t0001g0020 a0002c0006t0001g0037 a0002c0006t0001g0038 a0002c0006t0001g0091 a0002c0006t0001g0130 a0002c0006t0001g0136 a0002c0006t0001g0162 a0002c0006t0001g0165 a0002c0006t0001g0166 a0002c0006t0001g0167 a0002c0006t0001g0168 a0002c0006t0001g0170 a0002c0036t0001g0096 a0002c0042t0001g0138 a0003c0004t0001g0123 a0003c0004t0002g0011 a0003c0004t0002g0031 a0003c0004t0002g0033 a0003c0004t0002g0036 a0003c0004t0002g0086 a0003c0004t0002g0087 a0003c0004t0002g0092 a0003c0004t0002g0093 a0003c0004t0002g0094 a0003c0004t0002g0095 a0003c0004t0002g0104 a0003c0004t0002g0107 a0003c0004t0002g0109 a0003c0004t0002g0112 a0003c0004t0002g0113 a0003c0004t0002g0114 a0003c0004t0002g0115 a0003c0004t0002g0116 a0003c0004t0002g0118 a0003c0004t0002g0119 a0003c0004t0002g0122 a0003c0004t0002g0124 a0003c0004t0002g0125 a0003c0004t0002g0127 a0003c0004t0002g0128 a0003c0004t0002g0129 a0003c0004t0002g0131 a0003c0004t0002g0134 a0003c0004t0002g0135 a0003c0004t0002g0137 a0003c0004t0002g0141 a0003c0004t0002g0142 a0003c0004t0002g0145 a0003c0004t0002g0146 a0003c0004t0002g0163 a0003c0004t0002g0169 a0003c0038t0002g0066 a0003c0041t0002g0161 a0004c0010t0001g0060 a0004c0010t0001g0071 a0004c0010t0001g0269 a0004c0010t0001g0270 a0004c0010t0001g0273 a0004c0010t0001g0275 a0004c0010t0001g0276 a0004c0010t0001g0277 a0004c0010t0001g0278 a0004c0010t0001g0279 a0004c0010t0006g0274 a0004c0012t0001g0017 a0004c0012t0001g0072 a0004c0012t0001g0271 a0004c0012t0001g0272 a0004c0012t0001g0282 a0004c0015t0001g0041 a0004c0015t0001g0177 a0004c0015t0001g0178 a0004c0015t0001g0179 a0004c0016t0001g0155 a0004c0016t0001g0157 a0004c0016t0001g0158 a0004c0016t0001g0264 a0004c0016t0003g0153 a0004c0023t0001g0040 a0004c0024t0001g0062 a0004c0024t0001g0180 a0004c0046t0001g0149 a0004c0047t0001g0061 a0004c0048t0001g0287 a0004c0056t0001g0077 a0005c0005t0002g0001 a0005c0005t0002g0005 a0005c0005t0002g0039 a0005c0005t0002g0147 a0005c0005t0002g0148 a0005c0005t0002g0150 a0005c0005t0002g0151 a0005c0005t0002g0152 a0005c0005t0002g0154 a0005c0005t0002g0156 a0005c0005t0002g0164 a0005c0025t0002g0280 a0005c0025t0002g0281 a0006c0009t0002g0016 a0006c0009t0002g0029 a0006c0009t0002g0234 a0006c0009t0002g0245 a0006c0009t0002g0247 a0006c0009t0002g0248 a0006c0009t0002g0249 a0006c0009t0002g0252 a0006c0013t0002g0051 a0006c0013t0002g0211 a0006c0013t0002g0216 a0006c0013t0002g0217 a0006c0022t0002g0207 a0006c0022t0002g0209 a0006c0029t0002g0065 a0006c0031t0002g0225 a0006c0033t0002g0260 a0006c0055t0004g0063 a0007c0008t0001g0003 a0007c0008t0001g0009 a0007c0008t0001g0079 a0007c0008t0001g0080 a0007c0008t0001g0081 a0007c0008t0001g0082 a0008c0018t0001g0068 a0008c0018t0001g0069 a0008c0018t0001g0286 a0009c0017t0001g0055 a0009c0017t0001g0261 a0011c0035t0002g0085 a0012c0037t0002g0103 a0013c0040t0001g0132 a0014c0039t0001g0120 a0015c0043t0001g0139 a0016c0044t0002g0175 a0017c0045t0002g0176 a0018c0049t0001g0073 a0019c0050t0007g0075 a0020c0051t0001g0074 a0021c0027t0003g0232 a0022c0032t0003g0181 a0023c0028t0001g0240 a0024c0026t0003g0222	426	428	0.9953	3	c.68_ others(8): Show c.68_69insAAG	p.Arg others(5): Show p.Arg23dup	LTF	ENSG00000012223.13	transcript	ENST00000231751.9	protein_coding	2/17	106/2721	68/2133	23/710		chr3	TogoVar
LURAP1L_chr9_12770020_12828060	12775862	T T	TGGTGGC TGGTGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00735.hp2 HG01258.hp2 HG02615.hp1 others(7): Show HG00735.hp2 HG01258.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02896.hp2 HG03225.hp1 NA18522.hp1 NA20300.hp1 NA20300.hp2	a0003 a0006 a0003 a0006	a0003c0005 a0003c0009 a0006c0007 a0003c0005 a0003c0009 a0006c0007	a0003c0005t0001 a0003c0005t0002 a0003c0009t0001 others(3): Show a0003c0005t0001 a0003c0005t0002 a0003c0009t0001 a0003c0009t0010 a0006c0007t0001 a0006c0007t0018	a0003c0005t0001g0325 a0003c0005t0001g0327 a0003c0005t0001g0329 others(7): Show a0003c0005t0001g0325 a0003c0005t0001g0327 a0003c0005t0001g0329 a0003c0005t0001g0330 a0003c0005t0002g0324 a0003c0005t0002g0328 a0003c0009t0001g0326 a0003c0009t0010g0323 a0006c0007t0001g0331 a0006c0007t0018g0322	10	418	0.0239	6	c.149 others(13): Show c.149_150insTGGCGG	p.Gly others(11): Show p.Gly49_Gly50dup	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/2	846/2683	150/687	50/228	INFO_REALIGN_3_PRIME	chr9	TogoVar
M6PR_chr12_8935361_8954645	8946399	G G	GAAC GAAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(59): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00673.hp2 HG01123.hp2 HG01175.hp1 HG01261.hp1 HG01515.hp2 HG01517.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02300.hp1 HG02738.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp2 HG03688.hp1 HG03688.hp2 HG04115.hp1 NA18612.hp2 NA18940.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18978.hp2 NA18981.hp2 NA19000.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0008 a0002c0002t0012 others(2): Show a0002c0002t0001 a0002c0002t0008 a0002c0002t0012 a0002c0002t0014 a0003c0003t0001	a0002c0002t0001g0002 a0002c0002t0001g0027 a0002c0002t0001g0032 others(9): Show a0002c0002t0001g0002 a0002c0002t0001g0027 a0002c0002t0001g0032 a0002c0002t0001g0038 a0002c0002t0001g0068 a0002c0002t0001g0075 a0002c0002t0001g0078 a0002c0002t0008g0033 a0002c0002t0012g0076 a0002c0002t0014g0077 a0003c0003t0001g0025 a0003c0003t0001g0079	62	404	0.1535	3	c.3_5 others(6): Show c.3_5dupGTT	p.Met others(12): Show p.Met1_Phe2insLeu	M6PR	ENSG00000003056.8	transcript	ENST00000000412.8	protein_coding	2/7	164/2450	5/834	2/277		chr12	TogoVar
MADCAM1_chr19_491486_510343	501719	T T	TCTCCCGA others(17): Show TCTCCCGACACCACCTCCCAGGAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp2 HG01192.hp1 HG01891.hp2 others(33): Show HG00408.hp2 HG01192.hp1 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG06807.hp2 NA18906.hp1 NA18971.hp2 NA19030.hp1 NA20300.hp1 NA21309.hp1	a0005 a0020 a0024 others(2): Show a0005 a0020 a0024 a0025 a0030	a0005c0007 a0005c0011 a0005c0015 others(6): Show a0005c0007 a0005c0011 a0005c0015 a0005c0023 a0020c0033 a0020c0047 a0024c0031 a0025c0042 a0030c0030	a0005c0007t0001 a0005c0011t0001 a0005c0015t0001 others(6): Show a0005c0007t0001 a0005c0011t0001 a0005c0015t0001 a0005c0023t0001 a0020c0033t0001 a0020c0047t0001 a0024c0031t0001 a0025c0042t0001 a0030c0030t0001	a0005c0007t0001g0001 a0005c0007t0001g0032 a0005c0007t0001g0042 others(24): Show a0005c0007t0001g0001 a0005c0007t0001g0032 a0005c0007t0001g0042 a0005c0007t0001g0153 a0005c0007t0001g0154 a0005c0007t0001g0156 a0005c0007t0001g0157 a0005c0007t0001g0158 a0005c0007t0001g0168 a0005c0007t0001g0169 a0005c0007t0001g0170 a0005c0011t0001g0001 a0005c0011t0001g0155 a0005c0011t0001g0159 a0005c0011t0001g0160 a0005c0015t0001g0107 a0005c0015t0001g0188 a0005c0015t0001g0246 a0005c0015t0001g0270 a0005c0015t0001g0271 a0005c0023t0001g0089 a0005c0023t0001g0091 a0020c0033t0001g0065 a0020c0047t0001g0067 a0024c0031t0001g0094 a0025c0042t0001g0184 a0030c0030t0001g0093	36	364	0.0989	24	c.736 others(31): Show c.736_737insAGGAGCCTCCCGACACCACCTCCC	p.Ser others(37): Show p.Ser245_Pro246insGlnGluProProAspThrThrSer	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	751/1541	737/1149	246/382	INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	501719	T T	TCTCCCGA others(65): Show TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCCGGAGTC TCCCGACACCACCTCCCAGGAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18950.hp2 NA18950.hp2	a0027 a0027	a0027c0050 a0027c0050	a0027c0050t0002 a0027c0050t0002	a0027c0050t0002g0008 a0027c0050t0002g0008	1	364	0.0028	72	c.736 others(79): Show c.736_737insAGGAGCCTCCCGACACCACCTCCCCGGAGTCTCCCGAC ACCACCTCCCAGGAGCCTCCCGACACCACCTCCC	p.Ser others(85): Show p.Ser245_Pro246insGlnGluProProAspThrThrSerProGluSe rProAspThrThrSerGlnGluProProAspThrThrSer	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	751/1541	737/1149	246/382	INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	501738	C C	CGGACTCT others(41): Show CGGACTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp2 HG03139.hp1 HG03195.hp1 HG02257.hp2 HG03139.hp1 HG03195.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0001 a0012c0022t0001	a0012c0022t0001g0041 a0012c0022t0001g0268 a0012c0022t0001g0041 a0012c0022t0001g0268	3	364	0.0082	48	c.740 others(55): Show c.740_741insCTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCA CCTCCCAGGA	p.Pro others(61): Show p.Pro246_Glu247insAspSerProAspThrThrSerGlnGluProPr oAspThrThrSerGln	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	755/1541	741/1149	247/382	INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	501743	T T	TCTCCCGA others(41): Show TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0007 a0009 a0014 a0015 a0016 a0018 a0022 a0023 a0026 a0029	a0001c0001 a0001c0012 a0001c0016 others(22): Show a0001c0001 a0001c0012 a0001c0016 a0001c0024 a0001c0036 a0002c0004 a0002c0005 a0002c0013 a0002c0014 a0002c0037 a0002c0043 a0003c0002 a0003c0041 a0007c0009 a0007c0045 a0009c0010 a0009c0051 a0014c0021 a0015c0020 a0016c0029 a0018c0025 a0022c0040 a0023c0039 a0026c0035 a0029c0046	a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 a0001c0016t0001 a0001c0024t0001 a0001c0036t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0013t0002 a0002c0014t0001 a0002c0014t0002 a0002c0037t0001 a0002c0043t0001 a0003c0002t0001 a0003c0002t0002 a0003c0041t0001 a0007c0009t0001 a0007c0009t0002 a0007c0045t0001 a0009c0010t0002 a0009c0051t0001 a0014c0021t0001 a0014c0021t0002 a0015c0020t0001 a0016c0029t0001 a0018c0025t0001 a0022c0040t0001 a0023c0039t0001 a0026c0035t0001 a0029c0046t0002	a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0081 others(184): Show a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0081 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0233 a0001c0001t0002g0008 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0012t0001g0017 a0001c0012t0001g0018 a0001c0012t0001g0178 a0001c0012t0001g0198 a0001c0012t0001g0199 a0001c0012t0001g0206 a0001c0012t0001g0258 a0001c0016t0001g0028 a0001c0016t0001g0086 a0001c0016t0001g0087 a0001c0024t0001g0058 a0001c0024t0001g0088 a0001c0036t0002g0174 a0002c0004t0001g0004 a0002c0004t0001g0006 a0002c0004t0001g0030 a0002c0004t0001g0082 a0002c0004t0001g0117 a0002c0004t0001g0118 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0128 a0002c0004t0001g0142 a0002c0004t0001g0145 a0002c0004t0001g0149 a0002c0004t0001g0150 a0002c0004t0001g0161 a0002c0004t0001g0162 a0002c0004t0001g0163 a0002c0004t0001g0166 a0002c0004t0001g0263 a0002c0005t0001g0016 a0002c0005t0001g0126 a0002c0005t0001g0147 a0002c0005t0002g0011 a0002c0005t0002g0124 a0002c0005t0002g0125 a0002c0005t0002g0127 a0002c0005t0002g0129 a0002c0005t0002g0141 a0002c0005t0002g0148 a0002c0005t0002g0151 a0002c0005t0002g0152 a0002c0005t0002g0164 a0002c0005t0002g0165 a0002c0013t0002g0009 a0002c0013t0002g0083 a0002c0013t0002g0084 a0002c0013t0002g0090 a0002c0013t0002g0109 a0002c0014t0001g0034 a0002c0014t0001g0172 a0002c0014t0002g0020 a0002c0014t0002g0241 a0002c0014t0002g0259 a0002c0037t0001g0006 a0002c0043t0001g0251 a0003c0002t0001g0002 a0003c0002t0001g0007 a0003c0002t0001g0013 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0024 a0003c0002t0001g0045 a0003c0002t0001g0047 a0003c0002t0001g0048 a0003c0002t0001g0049 a0003c0002t0001g0050 a0003c0002t0001g0053 a0003c0002t0001g0054 a0003c0002t0001g0055 a0003c0002t0001g0059 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0062 a0003c0002t0001g0097 a0003c0002t0001g0108 a0003c0002t0001g0167 a0003c0002t0002g0014 a0003c0002t0002g0023 a0003c0002t0002g0051 a0003c0002t0002g0052 a0003c0002t0002g0056 a0003c0002t0002g0095 a0003c0041t0001g0104 a0007c0009t0001g0239 a0007c0009t0001g0242 a0007c0009t0001g0243 a0007c0009t0001g0244 a0007c0009t0001g0247 a0007c0009t0001g0248 a0007c0009t0001g0250 a0007c0009t0001g0254 a0007c0009t0001g0255 a0007c0009t0001g0256 a0007c0009t0002g0245 a0007c0009t0002g0253 a0007c0045t0001g0249 a0009c0010t0002g0019 a0009c0010t0002g0036 a0009c0010t0002g0038 a0009c0010t0002g0193 a0009c0010t0002g0222 a0009c0010t0002g0223 a0009c0010t0002g0232 a0009c0010t0002g0240 a0009c0051t0001g0200 a0014c0021t0001g0114 a0014c0021t0002g0112 a0014c0021t0002g0113 a0015c0020t0001g0025 a0015c0020t0001g0057 a0016c0029t0001g0027 a0018c0025t0001g0110 a0018c0025t0001g0111 a0022c0040t0001g0064 a0023c0039t0001g0006 a0026c0035t0001g0085 a0029c0046t0002g0221	240	364	0.6593	48	c.784 others(55): Show c.784_785insAGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCGAC ACCACCTCCC	p.Ser others(61): Show p.Ser261_Pro262insGlnGluProProAspThrThrSerGlnGluPr oProAspThrThrSer	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	799/1541	785/1149	262/382	INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	501743	T T	TCTCCCGA others(65): Show TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGCC TCCCGACACCACCTCCCAGGAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp1 HG03130.hp1 HG03540.hp1 HG01243.hp1 HG03130.hp1 HG03540.hp1	a0019 a0021 a0019 a0021	a0019c0026 a0021c0052 a0019c0026 a0021c0052	a0019c0026t0001 a0021c0052t0001 a0019c0026t0001 a0021c0052t0001	a0019c0026t0001g0266 a0019c0026t0001g0267 a0021c0052t0001g0269 a0019c0026t0001g0266 a0019c0026t0001g0267 a0021c0052t0001g0269	3	364	0.0082	72	c.784 others(79): Show c.784_785insAGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCGAC ACCACCTCCCAGGAGCCTCCCGACACCACCTCCC	p.Ser others(85): Show p.Ser261_Pro262insGlnGluProProAspThrThrSerGlnGluPr oProAspThrThrSerGlnGluProProAspThrThrSer	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	799/1541	785/1149	262/382	INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	501743	T T	TCTCCCGA others(41): Show TCTCCCGACACCACCTCCCAGGAGCCTCCTGACACCACCTCCCAGGAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0092 a0002c0032t0001g0092	1	364	0.0028	48	c.770 others(55): Show c.770_771insTGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCC AGGAGCCTCC	p.Pro others(61): Show p.Pro257_Asp258insAspThrThrSerGlnGluProProAspThrTh rSerGlnGluProPro	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	785/1541	771/1149	257/382	INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	501762	A A	AGGAGCCT others(41): Show AGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp2 HG00738.hp2 HG01099.hp2 others(1): Show HG00280.hp2 HG00738.hp2 HG01099.hp2 HG01175.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0002 a0011c0018t0002	a0011c0018t0002g0033 a0011c0018t0002g0177 a0011c0018t0002g0260 a0011c0018t0002g0033 a0011c0018t0002g0177 a0011c0018t0002g0260	4	364	0.0110	48	c.784 others(55): Show c.784_785insAGGAGCCTCCCGACACCACCTCCCCGGAGCCTCCCGAC ACCACCTCCC	p.Ser others(61): Show p.Ser261_Pro262insGlnGluProProAspThrThrSerProGluPr oProAspThrThrSer	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	799/1541	785/1149	262/382	INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	501762	A A	AGGAGCCT others(17): Show AGGAGCCTCCCGACACCACCTCCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03139.hp2 HG03139.hp2	a0028 a0028	a0028c0049 a0028c0049	a0028c0049t0001 a0028c0049t0001	a0028c0049t0001g0115 a0028c0049t0001g0115	1	364	0.0028	24	c.776 others(31): Show c.776_799dupCCACCTCCCCGGAGCCTCCCGACA	p.Thr others(13): Show p.Thr259_Asp266dup	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	4/5	814/1541	800/1149	267/382	INFO_REALIGN_3_PRIME	chr19	TogoVar
MAGEC1_chrX_141898894_141914374	141905825	T T	TTGAGTAT others(98): Show TTGAGTATTTTCCAGAGTTCCCCTGAGAGTATTCAAAGTCCTTTTGAGGG TTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCA CTTTAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19068.hp1 NA19068.hp1	a0187 a0187	a0187c0068 a0187c0068	a0187c0068t0001 a0187c0068t0001	a0187c0068t0001g0004 a0187c0068t0001g0004	1	359	0.0028	105	c.451 others(112): Show c.451_452insTTCAAAGTCCTTTTGAGGGTTTTCCCCAGTCTGTTCTC CAGATTCCTGTGAGCGCCGCCTCCTCCTCCACTTTAGTGAGTATTTTCCA GAGTTCCCCTGAGAGTA	p.Ser others(118): Show p.Ser150_Thr151insIleGlnSerProPheGluGlyPheProGlnSe rValLeuGlnIleProValSerAlaAlaSerSerSerThrLeuValSerI lePheGlnSerSerProGluSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	738/4256	452/3429	151/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905969	C C	CCTTTTGA others(203): Show CCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTC CTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTC AGAGAACTTCTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGC TCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAG AACTCAGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18941.hp2 NA18941.hp2	a0153 a0153	a0153c0102 a0153c0102	a0153c0102t0001 a0153c0102t0001	a0153c0102t0001g0001 a0153c0102t0001g0001	1	359	0.0028	210	c.661 others(217): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTCCCCAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAA	p.Arg others(223): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheProGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905969	C C	CCTTTTGA others(203): Show CCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTC CTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTC AGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGC TCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAG AACTCAGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00408.hp1 HG00544.hp1 others(75): Show HG00099.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG01074.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02080.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG04184.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18955.hp1 NA18960.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18987.hp1 NA18991.hp2 NA18998.hp1 NA19006.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19057.hp2 NA19064.hp1 NA19082.hp1 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0009 a0010 others(31): Show a0001 a0009 a0010 a0013 a0014 a0016 a0028 a0030 a0042 a0044 a0047 a0074 a0091 a0093 a0103 a0105 a0106 a0108 a0109 a0110 a0111 a0114 a0117 a0118 a0119 a0121 a0122 a0123 a0130 a0135 a0137 a0140 a0144 a0182	a0001c0001 a0001c0144 a0009c0008 others(32): Show a0001c0001 a0001c0144 a0009c0008 a0010c0010 a0013c0015 a0014c0016 a0016c0017 a0028c0025 a0030c0022 a0042c0060 a0044c0048 a0047c0045 a0074c0079 a0091c0148 a0093c0150 a0103c0132 a0105c0137 a0106c0140 a0108c0139 a0109c0138 a0110c0191 a0111c0141 a0114c0143 a0117c0071 a0118c0130 a0119c0129 a0121c0158 a0122c0159 a0123c0160 a0130c0165 a0135c0122 a0137c0123 a0140c0119 a0144c0117 a0182c0065	a0001c0001t0001 a0001c0001t0008 a0001c0144t0001 others(34): Show a0001c0001t0001 a0001c0001t0008 a0001c0144t0001 a0009c0008t0001 a0010c0010t0001 a0013c0015t0001 a0014c0016t0001 a0016c0017t0002 a0028c0025t0001 a0030c0022t0001 a0042c0060t0001 a0044c0048t0001 a0047c0045t0001 a0047c0045t0003 a0074c0079t0001 a0091c0148t0007 a0093c0150t0003 a0103c0132t0001 a0105c0137t0003 a0106c0140t0003 a0108c0139t0003 a0109c0138t0009 a0110c0191t0001 a0111c0141t0011 a0114c0143t0001 a0117c0071t0001 a0118c0130t0003 a0119c0129t0001 a0121c0158t0001 a0122c0159t0002 a0123c0160t0001 a0130c0165t0001 a0135c0122t0001 a0137c0123t0003 a0140c0119t0003 a0144c0117t0001 a0182c0065t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0008g0001 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0008g0001 a0001c0144t0001g0001 a0009c0008t0001g0001 a0009c0008t0001g0003 a0010c0010t0001g0001 a0013c0015t0001g0001 a0014c0016t0001g0002 a0016c0017t0002g0002 a0028c0025t0001g0001 a0030c0022t0001g0003 a0042c0060t0001g0002 a0044c0048t0001g0002 a0047c0045t0001g0003 a0047c0045t0003g0016 a0074c0079t0001g0001 a0091c0148t0007g0001 a0093c0150t0003g0012 a0103c0132t0001g0001 a0105c0137t0003g0005 a0106c0140t0003g0005 a0108c0139t0003g0005 a0109c0138t0009g0002 a0110c0191t0001g0002 a0111c0141t0011g0001 a0114c0143t0001g0001 a0117c0071t0001g0007 a0118c0130t0003g0015 a0119c0129t0001g0002 a0121c0158t0001g0002 a0122c0159t0002g0002 a0123c0160t0001g0002 a0130c0165t0001g0001 a0135c0122t0001g0001 a0137c0123t0003g0005 a0140c0119t0003g0005 a0144c0117t0001g0001 a0182c0065t0001g0003	78	359	0.2173	210	c.661 others(217): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAA	p.Arg others(223): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905969	C C	CCTTTTGA others(308): Show CCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTC CTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTC AGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGC TCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAG AACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTG TGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCT GAGAGAACTCAGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18953.hp1 NA19003.hp1 NA19012.hp1 others(2): Show NA18953.hp1 NA19003.hp1 NA19012.hp1 NA19074.hp2 NA19088.hp1	a0019 a0143 a0019 a0143	a0019c0014 a0143c0115 a0019c0014 a0143c0115	a0019c0014t0001 a0143c0115t0001 a0019c0014t0001 a0143c0115t0001	a0019c0014t0001g0001 a0143c0115t0001g0001 a0019c0014t0001g0001 a0143c0115t0001g0001	5	359	0.0139	315	c.661 others(322): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCA GTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGA GTATTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(328): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heProGlnSerProLeuGlnIleProValSerArgSerPheSerSerThr LeuLeuSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905969	C C	CCTTTTGA others(203): Show CCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTC CTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTC AGAGTACTTTTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGC TCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAG AACTCAGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01169.hp2 NA20300.hp2 HG01169.hp2 NA20300.hp2	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0001 a0020c0021t0001	a0020c0021t0001g0001 a0020c0021t0001g0001	2	359	0.0056	210	c.661 others(217): Show c.661_662insGTCAGAGTACTTTTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAA	p.Arg others(223): Show p.Arg220_Thr221insSerGlnSerThrPheGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905995	A A	ACTCCAGA others(308): Show ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTT TCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAG TCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAG TCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG CCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTA CTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTGCCCAGTCTCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp1 HG00738.hp1	a0159 a0159	a0159c0095 a0159c0095	a0159c0095t0001 a0159c0095t0001	a0159c0095t0001g0001 a0159c0095t0001g0001	1	359	0.0028	315	c.721 others(322): Show c.721_722insTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCT GAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGAT TCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTT TCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTC CAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTC CTCTCCAGATTCCTGTGAGCCCCTCCT	p.Ser others(328): Show p.Ser240_Ser241insPheSerSerThrLeuLeuSerLeuPheGlnSe rPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProL euGlnIleProValSerProSerPheSerSerThrLeuLeuSerLeuPhe GlnSerPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSe rProLeuGlnIleProValSerArgSerPheSerSerThrLeuLeuSerI lePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPheAla GlnSerProLeuGlnIleProValSerProSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1008/4256	722/3429	241/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905995	A A	ACTCCAGA others(623): Show ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTT TCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAG TCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAG TCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC CCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTA TTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCA CTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTC CTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTA CTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCC TCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCA GAGTACTTTTGAGGGTTTTGCCCAGTCTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp2 HG03225.hp1 NA19043.hp1 HG02559.hp2 HG03225.hp1 NA19043.hp1	a0027 a0027	a0027c0030 a0027c0030	a0027c0030t0001 a0027c0030t0001	a0027c0030t0001g0002 a0027c0030t0001g0002	3	359	0.0084	630	c.661 others(637): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTT GCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTT AGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCC ACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTT TGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCGCTCCTTCT CCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(643): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerSerSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArgThrGlnSerThrPheGl uGlyPheAlaGlnSerSerLeuGlnIleProValSerProSerPheSerS erThrLeuValSerIlePheGlnSerSerProGluArgThrGlnSerThr PheGluGlyPheProGlnSerProLeuGlnIleProValSerSerSerSe rSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThrGlnS erThrPheGluGlyPheAlaGlnSerSerLeuGlnIleProValSerArg SerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar

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