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
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(41): Show CTTTAGTTCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp1 HG02109.hp1	a0016 a0016	a0016c0174 a0016c0174	a0016c0174t0005 a0016c0174t0005	a0016c0174t0005g0406 a0016c0174t0005g0406	1	414	0.0024	48	c.402 others(57): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGGAACTAAA	p.Lys others(63): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGlyThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(89): Show CTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACT TTAGTCCCCTCTAACTGCACCACCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03453.hp1 HG03453.hp1	a0104 a0104	a0104c0206 a0104c0206	a0104c0206t0001 a0104c0206t0001	a0104c0206t0001g0256 a0104c0206t0001g0256	1	414	0.0024	96	c.402 others(105): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGTGGTGCAGTTA GAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGAAACTAAA	p.Lys others(111): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluValVal GlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGluGlyValGl nLeuGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(89): Show CTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACT TTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03130.hp1 NA20129.hp2 HG03130.hp1 NA20129.hp2	a0059 a0075 a0059 a0075	a0059c0189 a0075c0167 a0059c0189 a0075c0167	a0059c0189t0003 a0075c0167t0016 a0059c0189t0003 a0075c0167t0016	a0059c0189t0003g0380 a0075c0167t0016g0405 a0059c0189t0003g0380 a0075c0167t0016g0405	2	414	0.0048	96	c.402 others(105): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGAAACTAAA	p.Lys others(111): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGluGlyValGl nLeuGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(137): Show CTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACT TTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTT AGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01952.hp1 HG01952.hp1	a0126 a0126	a0126c0086 a0126c0086	a0126c0086t0005 a0126c0086t0005	a0126c0086t0005g0289 a0126c0086t0005g0289	1	414	0.0024	144	c.402 others(153): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG AAACTAAA	p.Lys others(159): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGl nLeuGluGlyThrLysValIleGluGlyLeuGlnGluGluGlyValGlnL euGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(149): Show CTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTGCTCCT GTTTCTTCAATTTCCTCTAACTGCGCCTCTTCTTCTTGCTGTCCTTCTCC TTCCGTTTCTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTT CTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp1 HG02055.hp1	a0084 a0084	a0084c0175 a0084c0175	a0084c0175t0005 a0084c0175t0005	a0084c0175t0005g0368 a0084c0175t0005g0368	1	414	0.0024	156	c.402 others(165): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGGGACTAAAGAAACGGAAGGAGAAGGACAGCAAGAAGAAGAGGCGCA GTTAGAGGAAATTGAAGAAACAGGAGCAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGAAACTAAA	p.Lys others(171): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGlyThrLysGluThrGluGlyGluGlyGlnGlnGluGluGl uAlaGlnLeuGluGluIleGluGluThrGlyAlaGluGlyLeuGlnGluG luGlyValGlnLeuGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(41): Show CTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01106.hp1 HG01978.hp2 HG01106.hp1 HG01978.hp2	a0042 a0042	a0042c0038 a0042c0038	a0042c0038t0003 a0042c0038t0003	a0042c0038t0003g0309 a0042c0038t0003g0317 a0042c0038t0003g0309 a0042c0038t0003g0317	2	414	0.0048	48	c.397 others(57): Show c.3979_4026dupACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAA	p.Lys others(63): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(137): Show CTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTT TTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTT AGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03927.hp2 HG03927.hp2	a0157 a0157	a0157c0125 a0157c0125	a0157c0125t0002 a0157c0125t0002	a0157c0125t0002g0172 a0157c0125t0002g0172	1	414	0.0024	144	c.402 others(153): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG AAACTAAA	p.Lys others(159): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGl nLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnL euGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(140): Show CTTTAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACT TTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTC TTTAGTTCCCTCTAACTGCACCGCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03041.hp1 HG03041.hp1	a0106 a0106	a0106c0153 a0106c0153	a0106c0153t0003 a0106c0153t0003	a0106c0153t0003g0394 a0106c0153t0003g0394	1	414	0.0024	147	c.402 others(156): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGCGGTGCAGTTA GAGGGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTT AGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAG AGGAAACTAAA	p.Lys others(162): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluAlaVal GlnLeuGluGlyThrLysGluThrGluGluGlyLeuGlnGluGluGlyVa lGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGluArgValG lnLeuGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(188): Show CTTTAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACT TTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTC TTTAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTTCTGTTT TAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03209.hp2 HG03209.hp2	a0090 a0090	a0090c0156 a0090c0156	a0090c0156t0006 a0090c0156t0006	a0090c0156t0006g0243 a0090c0156t0006g0243	1	414	0.0024	195	c.402 others(204): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTA GAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGA GGAAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAG AGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAG GAAACTAAA	p.Lys others(210): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluArgVal GlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluArgValGl nLeuGluGluThrLysGluThrGluGluGlyLeuGlnGluGluGlyValG lnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGluArgValGln LeuGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610071	C C	CTTTAGTT others(137): Show CTTTAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACT TTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTT AGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp2 HG02109.hp2	a0102 a0102	a0102c0205 a0102c0205	a0102c0205t0002 a0102c0205t0002	a0102c0205t0002g0041 a0102c0205t0002g0041	1	414	0.0024	144	c.402 others(153): Show c.4026_4027insACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTA GAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG AAACTAAA	p.Lys others(159): Show p.Lys1342_Glu1343insThrGluGluGlyLeuGlnGluGluGlyVal GlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGl nLeuGluGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnL euGluGluThrLys	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4291/8014	4026/7203	1342/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(41): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00544.hp1 HG00558.hp1 HG00558.hp2 others(34): Show HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp1 HG01071.hp1 HG01975.hp1 HG02040.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03579.hp2 NA18612.hp1 NA18944.hp1 NA18948.hp2 NA18952.hp2 NA18989.hp1 NA18993.hp2 NA19011.hp2 NA19030.hp1 NA19055.hp2 NA19066.hp1 NA19079.hp1	a0007 a0013 a0019 others(17): Show a0007 a0013 a0019 a0023 a0035 a0038 a0049 a0060 a0061 a0064 a0073 a0077 a0078 a0082 a0096 a0099 a0105 a0108 a0111 a0152	a0007c0006 a0007c0116 a0013c0209 others(18): Show a0007c0006 a0007c0116 a0013c0209 a0019c0014 a0023c0019 a0035c0053 a0038c0056 a0049c0033 a0060c0191 a0061c0190 a0064c0188 a0073c0172 a0077c0165 a0078c0166 a0082c0170 a0096c0200 a0099c0202 a0105c0197 a0108c0152 a0111c0103 a0152c0117	a0007c0006t0001 a0007c0116t0001 a0013c0209t0001 others(20): Show a0007c0006t0001 a0007c0116t0001 a0013c0209t0001 a0019c0014t0001 a0023c0019t0001 a0023c0019t0007 a0035c0053t0015 a0035c0053t0016 a0038c0056t0018 a0049c0033t0012 a0060c0191t0010 a0061c0190t0003 a0064c0188t0003 a0073c0172t0008 a0077c0165t0010 a0078c0166t0010 a0082c0170t0009 a0096c0200t0013 a0099c0202t0007 a0105c0197t0017 a0108c0152t0001 a0111c0103t0001 a0152c0117t0001	a0007c0006t0001g0059 a0007c0006t0001g0078 a0007c0006t0001g0081 others(33): Show a0007c0006t0001g0059 a0007c0006t0001g0078 a0007c0006t0001g0081 a0007c0006t0001g0123 a0007c0006t0001g0137 a0007c0006t0001g0138 a0007c0006t0001g0195 a0007c0006t0001g0205 a0007c0006t0001g0217 a0007c0116t0001g0018 a0013c0209t0001g0064 a0019c0014t0001g0140 a0019c0014t0001g0182 a0019c0014t0001g0193 a0019c0014t0001g0222 a0023c0019t0001g0075 a0023c0019t0001g0102 a0023c0019t0007g0282 a0035c0053t0015g0408 a0035c0053t0016g0384 a0038c0056t0018g0003 a0049c0033t0012g0278 a0049c0033t0012g0279 a0060c0191t0010g0032 a0061c0190t0003g0263 a0064c0188t0003g0391 a0073c0172t0008g0345 a0077c0165t0010g0033 a0078c0166t0010g0029 a0082c0170t0009g0264 a0096c0200t0013g0252 a0099c0202t0007g0379 a0105c0197t0017g0403 a0108c0152t0001g0030 a0111c0103t0001g0249 a0152c0117t0001g0084	37	414	0.0894	48	c.401 others(57): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGG	p.Glu others(63): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluGlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(89): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19056.hp1 NA19088.hp1 NA19056.hp1 NA19088.hp1	a0051 a0051	a0051c0034 a0051c0034	a0051c0034t0001 a0051c0034t0001	a0051c0034t0001g0086 a0051c0034t0001g0087 a0051c0034t0001g0086 a0051c0034t0001g0087	2	414	0.0048	96	c.401 others(105): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTG CAGTTAGAGG	p.Glu others(111): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGl uGlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(41): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp2 HG01993.hp2 HG00639.hp2 HG01993.hp2	a0043 a0043	a0043c0036 a0043c0036	a0043c0036t0005 a0043c0036t0005	a0043c0036t0005g0315 a0043c0036t0005g0327 a0043c0036t0005g0315 a0043c0036t0005g0327	2	414	0.0048	48	c.401 others(57): Show c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGG	p.Glu others(63): Show p.Glu1339_Glu1340insGlyThrLysThrGluGluGlyLeuGlnGlu GluGlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(89): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG01934.hp2 NA20752.hp1 HG00099.hp1 HG01934.hp2 NA20752.hp1	a0044 a0143 a0044 a0143	a0044c0037 a0143c0067 a0044c0037 a0143c0067	a0044c0037t0002 a0044c0037t0005 a0143c0067t0003 a0044c0037t0002 a0044c0037t0005 a0143c0067t0003	a0044c0037t0002g0035 a0044c0037t0005g0360 a0143c0067t0003g0318 a0044c0037t0002g0035 a0044c0037t0005g0360 a0143c0067t0003g0318	3	414	0.0073	96	c.401 others(105): Show c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTG CAGTTAGAGG	p.Glu others(111): Show p.Glu1339_Glu1340insGlyThrLysThrGluGluGlyLeuGlnGlu GluGlyValGlnLeuGluGlyThrLysThrGluGluGlyLeuGlnGluGl uGlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(137): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCT CTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01515.hp2 HG01515.hp2	a0163 a0163	a0163c0110 a0163c0110	a0163c0110t0017 a0163c0110t0017	a0163c0110t0017g0312 a0163c0110t0017g0312	1	414	0.0024	144	c.401 others(153): Show c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTG CAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCA GTTAGAGG	p.Glu others(159): Show p.Glu1339_Glu1340insGlyThrLysThrGluGluGlyLeuGlnGlu GluGlyValGlnLeuGluGlyThrLysThrGluGluGlyLeuGlnGluGl uGlyValGlnLeuGluGlyThrLysThrGluGluGlyLeuGlnGluGluG lyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(89): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp1 HG02723.hp1	a0079 a0079	a0079c0169 a0079c0169	a0079c0169t0013 a0079c0169t0013	a0079c0169t0013g0245 a0079c0169t0013g0245	1	414	0.0024	96	c.401 others(105): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTG CAGTTAGAGG	p.Glu others(111): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGl uGlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(41): Show TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00621.hp2 HG00673.hp2 others(42): Show HG00140.hp2 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02083.hp2 HG02148.hp1 HG02300.hp1 HG03098.hp2 HG03225.hp2 HG03486.hp1 HG03654.hp1 HG03654.hp2 HG04184.hp1 NA18747.hp2 NA18940.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18959.hp2 NA18966.hp2 NA18970.hp2 NA18979.hp1 NA18994.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19074.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1	a0002 a0008 a0033 others(9): Show a0002 a0008 a0033 a0047 a0057 a0103 a0107 a0115 a0120 a0150 a0151 a0165	a0002c0001 a0002c0111 a0002c0133 others(11): Show a0002c0001 a0002c0111 a0002c0133 a0008c0144 a0033c0026 a0047c0046 a0057c0194 a0103c0198 a0107c0154 a0115c0071 a0120c0080 a0150c0107 a0151c0120 a0165c0109	a0002c0001t0001 a0002c0001t0007 a0002c0111t0001 others(13): Show a0002c0001t0001 a0002c0001t0007 a0002c0111t0001 a0002c0133t0007 a0008c0144t0001 a0033c0026t0001 a0033c0026t0007 a0047c0046t0001 a0057c0194t0030 a0103c0198t0009 a0107c0154t0006 a0115c0071t0021 a0120c0080t0001 a0150c0107t0001 a0151c0120t0008 a0165c0109t0001	a0002c0001t0001g0042 a0002c0001t0001g0049 a0002c0001t0001g0050 others(42): Show a0002c0001t0001g0042 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0063 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0083 a0002c0001t0001g0091 a0002c0001t0001g0094 a0002c0001t0001g0100 a0002c0001t0001g0106 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0111 a0002c0001t0001g0118 a0002c0001t0001g0131 a0002c0001t0001g0134 a0002c0001t0001g0145 a0002c0001t0001g0161 a0002c0001t0001g0170 a0002c0001t0001g0197 a0002c0001t0001g0202 a0002c0001t0001g0211 a0002c0001t0001g0213 a0002c0001t0001g0221 a0002c0001t0001g0228 a0002c0001t0001g0232 a0002c0001t0007g0270 a0002c0001t0007g0331 a0002c0111t0001g0037 a0002c0133t0007g0341 a0008c0144t0001g0112 a0033c0026t0001g0077 a0033c0026t0007g0283 a0033c0026t0007g0284 a0047c0046t0001g0072 a0047c0046t0001g0198 a0057c0194t0030g0396 a0103c0198t0009g0374 a0107c0154t0006g0017 a0115c0071t0021g0022 a0120c0080t0001g0101 a0150c0107t0001g0229 a0151c0120t0008g0274 a0165c0109t0001g0126	45	414	0.1087	48	c.401 others(57): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGG TGCAGTTAGAGG	p.Glu others(63): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluArgValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(239): Show TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTCC CCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTT TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp1 HG02451.hp1	a0070 a0070	a0070c0182 a0070c0182	a0070c0182t0009 a0070c0182t0009	a0070c0182t0009g0363 a0070c0182t0009g0363	1	414	0.0024	246	c.401 others(255): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTG CAGTTAGAGGAAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGGT GCAGTTAGAGGGGACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTG CAGTTAGAGG	p.Glu others(261): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGl uGlyValGlnLeuGluGluThrLysGluThrGluGluGlyLeuGlnGluG luGlyValGlnLeuGluGlyThrLysGluThrGluGluGlyLeuGlnGlu GluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGl uArgValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610079	T T	TCCTCTAA others(188): Show TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC CCTCTAACTGCACCGCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCC TCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp1 HG02717.hp1	a0097 a0097	a0097c0201 a0097c0201	a0097c0201t0015 a0097c0201t0015	a0097c0201t0015g0334 a0097c0201t0015g0334	1	414	0.0024	195	c.401 others(204): Show c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGG TGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGCGGTG CAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGGT GCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGC AGTTAGAGG	p.Glu others(210): Show p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGlu GluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGl uAlaValGlnLeuGluGlyThrLysGluThrGluGluGlyLeuGlnGluG luGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGluGlu ArgValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4283/8014	4018/7203	1340/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610089	G G	GCACCCTC others(284): Show GCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGC ACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTG CACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCA CCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACC CCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCC CTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02572.hp2 HG02572.hp2	a0069 a0069	a0069c0186 a0069c0186	a0069c0186t0009 a0069c0186t0009	a0069c0186t0009g0365 a0069c0186t0009g0365	1	414	0.0024	291	c.400 others(300): Show c.4008_4009insGAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAA GAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGA AGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAG AGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAG GGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGA GGGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGA GGGTG	p.Val others(306): Show p.Val1336_Gln1337insGluLeuGluGluThrLysThrGluGluGly LeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLe uGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuG lnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGln GluGluGlyValGlnLeuGluGlyThrLysGluThrGluGluGlyLeuGl nGluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnG luGluArgVal	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4273/8014	4008/7203	1336/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610094	C C	CCCTCTTC others(491): Show CCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCC CTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTCCCCTCTAACTGCACCC CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCGCC TCTTCTTGCAGCCCTTCTCCTCCTGTTTCTTCAATTTCCTCTAACTGCGC CTCTTCTTCTTGCTGTCCTTCTCCTTCCGTTTCTTTAGTTTCCTCTAACT GCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGC ACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTG CACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCA CCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACC CCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTCCACCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA20129.hp1 NA20129.hp1	a0067 a0067	a0067c0184 a0067c0184	a0067c0184t0009 a0067c0184t0009	a0067c0184t0009g0269 a0067c0184t0009g0269	1	414	0.0024	498	c.400 others(507): Show c.4003_4004insCGGTGGAGTTAGAGGAAACTAAAACAGAAGAAGGGC TGCAAGAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTG CAAGAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCA AGAAGAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGC AAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAA GAAGAGGGGGTGCAGTTAGAGGAAACTAAAGAAACGGAAGGAGAAGGACA GCAAGAAGAAGAGGCGCAGTTAGAGGAAATTGAAGAAACAGGAGGAGAAG GGCTGCAAGAAGAGGCGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGG CTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAGAAACGGAAGAAGG GCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGC TGCAAGAAGAGG	p.Glu others(513): Show p.Glu1334_Gly1335insAlaValGluLeuGluGluThrLysThrGlu GluGlyLeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGl uGlyLeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluG lyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGluGlu GlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysValIleGluGl yLeuGlnGluGluGlyValGlnLeuGluGluThrLysGluThrGluGlyG luGlyGlnGlnGluGluGluAlaGlnLeuGluGluIleGluGluThrGly GlyGluGlyLeuGlnGluGluAlaValGlnLeuGluGluThrLysThrGl uGluGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrG luGluGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysValIle GluGlyLeuGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4268/8014	4003/7203	1335/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610094	C C	CCCTCTTC others(1133): Show CCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCC CTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACCA CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCGCC TCTTCTTGCAGCCCTTCTCCTCCTGTTTCTTCAATTTCCTCTAACTGCGC CTCTTCTTCTTGCTGTCCTTCTCCTTCCGTTTCTTTAGTTTCCTCTAACT GCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGC ACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTTCCTCTAACTG CACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCA CCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGC ACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCAC CCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTCCACCG CCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACC CCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCC CTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACCC CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCCC TCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACCCC CTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCCCT CTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTCCACCGCCTCT TCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACCCCCTC TTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCCCTCTT CTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACCCCCTCT TCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCCCTCTTC TTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTCCACCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02615.hp2 HG02615.hp2	a0068 a0068	a0068c0185 a0068c0185	a0068c0185t0009 a0068c0185t0009	a0068c0185t0009g0259 a0068c0185t0009g0259	1	414	0.0024	1140	c.400 others(1149): Show c.4003_4004insCGGTGGAGTTAGAGGAAACTAAAACAGAAGAAGGGC TGCAAGAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTG CAAGAAGAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCT GCAAGAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGC AAGAAGAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTG CAAGAAGAGGCGGTGGAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCA AGAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAG AAGAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAA GAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGA AGAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAAG AAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAA GAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAAGA AGAGGCGGTGGAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAG AGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAG GGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGA GGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGG GGGTGCAGTTAGAGGAAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAG GGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGG GGTGCAGTTAGAGGAAACTAAAGAAACGGAAGGAGAAGGACAGCAAGAAG AAGAGGCGCAGTTAGAGGAAATTGAAGAAACAGGAGGAGAAGGGCTGCAA GAAGAGGCGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGA AGAGGTGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAAG AAGAGGGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAA GAGG	p.Glu others(1155): Show p.Glu1334_Gly1335insAlaValGluLeuGluGluThrLysThrGlu GluGlyLeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGl uGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGluG luGlyLeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGlu GlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGluGl uGlyLeuGlnGluGluAlaValGluLeuGluGluThrLysThrGluGluG lyLeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGly LeuGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGluGluGl yLeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyL euGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGluGluGly LeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLe uGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGluGluGlyL euGlnGluGluAlaValGluLeuGluGluThrLysThrGluGluGlyLeu GlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGl nGluGluGlyValGlnLeuGluGlyThrLysGluThrGluGluGlyLeuG lnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGln GluGluGlyValGlnLeuGluGluThrLysGluThrGluGluGlyLeuGl nGluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnG luGluGlyValGlnLeuGluGluThrLysGluThrGluGlyGluGlyGln GlnGluGluGluAlaGlnLeuGluGluIleGluGluThrGlyGlyGluGl yLeuGlnGluGluAlaValGlnLeuGluGluThrLysThrGluGluGlyL euGlnGluGluValValGlnLeuGluGlyThrLysGluThrGluGluGly LeuGlnGluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLe uGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4268/8014	4003/7203	1335/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610094	C C	CCCTCTTC others(140): Show CCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCC CTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACCC CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTCCACCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02559.hp1 HG06807.hp2 NA20300.hp2 HG02559.hp1 HG06807.hp2 NA20300.hp2	a0022 a0022	a0022c0030 a0022c0030	a0022c0030t0009 a0022c0030t0009	a0022c0030t0009g0002 a0022c0030t0009g0257 a0022c0030t0009g0002 a0022c0030t0009g0257	3	414	0.0073	147	c.400 others(156): Show c.4003_4004insCGGTGGAGTTAGAGGAAACTAAAACAGAAGAAGGGC TGCAAGAAGAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGG CTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCT GCAAGAAGAGG	p.Glu others(162): Show p.Glu1334_Gly1335insAlaValGluLeuGluGluThrLysThrGlu GluGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGl uGluGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysValIleG luGlyLeuGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4268/8014	4003/7203	1335/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610094	C C	CCCTCTTC others(188): Show CCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCC CTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACCC CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCCC TCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTCCACCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01891.hp2 HG02559.hp2 HG01891.hp2 HG02559.hp2	a0100 a0101 a0100 a0101	a0100c0203 a0101c0204 a0100c0203 a0101c0204	a0100c0203t0009 a0101c0204t0009 a0100c0203t0009 a0101c0204t0009	a0100c0203t0009g0262 a0101c0204t0009g0265 a0100c0203t0009g0262 a0101c0204t0009g0265	2	414	0.0048	195	c.400 others(204): Show c.4003_4004insCGGTGGAGTTAGAGGAAACTAAAACAGAAGAAGGGC TGCAAGAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTG CAAGAAGAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCT GCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGC AAGAAGAGG	p.Glu others(210): Show p.Glu1334_Gly1335insAlaValGluLeuGluGluThrLysThrGlu GluGlyLeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGl uGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGluG luGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysValIleGlu GlyLeuGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4268/8014	4003/7203	1335/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610095	C C	CCTCTTCT others(41): Show CCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp2 HG01884.hp2	a0091 a0091	a0091c0158 a0091c0158	a0091c0158t0003 a0091c0158t0003	a0091c0158t0003g0294 a0091c0158t0003g0294	1	414	0.0024	48	c.400 others(57): Show c.4002_4003insAGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGG CTGCAAGAAGAG	p.Glu others(63): Show p.Glu1334_Gly1335insArgValGlnLeuGluGlyThrLysValIle GluGlyLeuGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4267/8014	4002/7203	1334/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610095	C C	CCTCTTCT others(89): Show CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCC TCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02698.hp2 HG02698.hp2	a0156 a0156	a0156c0122 a0156c0122	a0156c0122t0005 a0156c0122t0005	a0156c0122t0005g0335 a0156c0122t0005g0335	1	414	0.0024	96	c.400 others(105): Show c.4002_4003insAGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGG CTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCT GCAAGAAGAG	p.Glu others(111): Show p.Glu1334_Gly1335insArgValGlnLeuGluGluThrLysThrGlu GluGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysThrGluGl uGlyLeuGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4267/8014	4002/7203	1334/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610095	C C	CCTCTTCT others(41): Show CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG02818.hp2 HG02970.hp1 others(6): Show HG00408.hp1 HG02818.hp2 HG02970.hp1 HG03490.hp1 HG03492.hp1 HG03834.hp2 HG04199.hp2 NA19074.hp1 NA19240.hp2	a0029 a0034 a0072 others(2): Show a0029 a0034 a0072 a0089 a0098	a0029c0017 a0034c0016 a0072c0180 others(2): Show a0029c0017 a0034c0016 a0072c0180 a0089c0157 a0098c0199	a0029c0017t0003 a0029c0017t0006 a0034c0016t0003 others(4): Show a0029c0017t0003 a0029c0017t0006 a0034c0016t0003 a0034c0016t0006 a0072c0180t0003 a0089c0157t0003 a0098c0199t0011	a0029c0017t0003g0343 a0029c0017t0003g0347 a0029c0017t0006g0010 others(5): Show a0029c0017t0003g0343 a0029c0017t0003g0347 a0029c0017t0006g0010 a0034c0016t0003g0004 a0034c0016t0006g0095 a0072c0180t0003g0261 a0089c0157t0003g0267 a0098c0199t0011g0028	9	414	0.0217	48	c.400 others(57): Show c.4002_4003insAGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGG CTGCAAGAAGAG	p.Glu others(63): Show p.Glu1334_Gly1335insArgValGlnLeuGluGluThrLysThrGlu GluGlyLeuGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4267/8014	4002/7203	1334/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610112	T T	TCTATTAC others(38): Show TCTATTACTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02074.hp2 HG02074.hp2	a0112 a0112	a0112c0102 a0112c0102	a0112c0102t0002 a0112c0102t0002	a0112c0102t0002g0214 a0112c0102t0002g0214	1	414	0.0024	45	c.398 others(54): Show c.3985_3986insGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTA AAGTAATAG	p.Glu others(60): Show p.Glu1328_Glu1329insGlyLeuGlnGluGluGlyValGlnLeuGlu GlyThrLysValIle	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4250/8014	3985/7203	1329/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610119	T T	TTTC TTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(77): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01192.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01975.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03654.hp1 HG03654.hp2 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18959.hp2 NA18966.hp2 NA18970.hp2 NA18979.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19066.hp1 NA19074.hp2 NA19079.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2	a0002 a0007 a0008 others(24): Show a0002 a0007 a0008 a0013 a0019 a0022 a0023 a0030 a0033 a0047 a0051 a0067 a0068 a0069 a0070 a0082 a0099 a0100 a0101 a0107 a0108 a0111 a0120 a0150 a0151 a0152 a0165	a0002c0001 a0002c0111 a0002c0133 others(28): Show a0002c0001 a0002c0111 a0002c0133 a0007c0006 a0007c0116 a0008c0144 a0008c0146 a0013c0209 a0019c0014 a0022c0030 a0023c0019 a0030c0027 a0033c0026 a0047c0046 a0051c0034 a0067c0184 a0068c0185 a0069c0186 a0070c0182 a0082c0170 a0099c0202 a0100c0203 a0101c0204 a0107c0154 a0108c0152 a0111c0103 a0120c0080 a0150c0107 a0151c0120 a0152c0117 a0165c0109	a0002c0001t0001 a0002c0001t0007 a0002c0111t0001 others(31): Show a0002c0001t0001 a0002c0001t0007 a0002c0111t0001 a0002c0133t0007 a0007c0006t0001 a0007c0116t0001 a0008c0144t0001 a0008c0146t0001 a0013c0209t0001 a0019c0014t0001 a0022c0030t0009 a0023c0019t0001 a0023c0019t0007 a0030c0027t0001 a0033c0026t0001 a0033c0026t0007 a0047c0046t0001 a0051c0034t0001 a0067c0184t0009 a0068c0185t0009 a0069c0186t0009 a0070c0182t0009 a0082c0170t0009 a0099c0202t0007 a0100c0203t0009 a0101c0204t0009 a0107c0154t0006 a0108c0152t0001 a0111c0103t0001 a0120c0080t0001 a0150c0107t0001 a0151c0120t0008 a0152c0117t0001 a0165c0109t0001	a0002c0001t0001g0042 a0002c0001t0001g0049 a0002c0001t0001g0050 others(76): Show a0002c0001t0001g0042 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0063 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0083 a0002c0001t0001g0091 a0002c0001t0001g0094 a0002c0001t0001g0100 a0002c0001t0001g0106 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0111 a0002c0001t0001g0118 a0002c0001t0001g0131 a0002c0001t0001g0134 a0002c0001t0001g0145 a0002c0001t0001g0161 a0002c0001t0001g0170 a0002c0001t0001g0197 a0002c0001t0001g0202 a0002c0001t0001g0211 a0002c0001t0001g0213 a0002c0001t0001g0221 a0002c0001t0001g0228 a0002c0001t0001g0232 a0002c0001t0007g0270 a0002c0001t0007g0331 a0002c0111t0001g0037 a0002c0133t0007g0341 a0007c0006t0001g0059 a0007c0006t0001g0078 a0007c0006t0001g0081 a0007c0006t0001g0123 a0007c0006t0001g0137 a0007c0006t0001g0138 a0007c0006t0001g0195 a0007c0006t0001g0205 a0007c0006t0001g0217 a0007c0116t0001g0018 a0008c0144t0001g0112 a0008c0146t0001g0238 a0013c0209t0001g0064 a0019c0014t0001g0140 a0019c0014t0001g0182 a0019c0014t0001g0193 a0019c0014t0001g0222 a0022c0030t0009g0002 a0022c0030t0009g0257 a0023c0019t0001g0075 a0023c0019t0001g0102 a0023c0019t0007g0282 a0030c0027t0001g0124 a0030c0027t0001g0125 a0030c0027t0001g0223 a0033c0026t0001g0077 a0033c0026t0007g0283 a0033c0026t0007g0284 a0047c0046t0001g0072 a0047c0046t0001g0198 a0051c0034t0001g0086 a0051c0034t0001g0087 a0067c0184t0009g0269 a0068c0185t0009g0259 a0069c0186t0009g0365 a0070c0182t0009g0363 a0082c0170t0009g0264 a0099c0202t0007g0379 a0100c0203t0009g0262 a0101c0204t0009g0265 a0107c0154t0006g0017 a0108c0152t0001g0030 a0111c0103t0001g0249 a0120c0080t0001g0101 a0150c0107t0001g0229 a0151c0120t0008g0274 a0152c0117t0001g0084 a0165c0109t0001g0126	80	414	0.1932	3	c.397 others(12): Show c.3978_3979insGAA	p.Lys others(18): Show p.Lys1326_Thr1327insGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4243/8014	3978/7203	1326/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610119	T T	TTTCTTTA others(338): Show TTTCTTTAGTTCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCT GTTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT TTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTT CTTTAGTTCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTT TTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTT AGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAG TTTCCTCTAACTCCACCGCCTCTTCTTGCAGCCCTTCTTCCGTTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02572.hp1 HG02572.hp1	a0071 a0071	a0071c0181 a0071c0181	a0071c0181t0011 a0071c0181t0011	a0071c0181t0011g0244 a0071c0181t0011g0244	1	414	0.0024	345	c.397 others(354): Show c.3978_3979insGAAACGGAAGAAGGGCTGCAAGAAGAGGCGGTGGAG TTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTT AGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAG AGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAG GGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGA GGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG AAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGA ACTAAAGAA	p.Lys others(360): Show p.Lys1326_Thr1327insGluThrGluGluGlyLeuGlnGluGluAla ValGluLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyVa lGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValG lnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGln LeuGluGlyThrLysGluThrGluGluGlyLeuGlnGluGluGlyValGl nLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnL euGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeu GluGlyThrLysGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4243/8014	3978/7203	1326/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610127	T T	TCCTCTAA others(284): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCT CTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCT AACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAA CTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACT GCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00438.hp1 HG00438.hp1	a0161 a0161	a0161c0121 a0161c0121	a0161c0121t0002 a0161c0121t0002	a0161c0121t0002g0196 a0161c0121t0002g0196	1	414	0.0024	291	c.397 others(300): Show c.3970_3971insGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGG GGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGG GTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGT GCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGC AGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAG TTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTT AGAGG	p.Glu others(306): Show p.Glu1323_Glu1324insGlyThrLysGluThrGluGluGlyLeuGln GluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGl uGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluG luGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGlu GlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGl yValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGlyV alGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4235/8014	3970/7203	1324/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610127	T T	TCCTCTAA others(236): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCT CTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCT AACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAA CTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19030.hp2 NA19030.hp2	a0144 a0144	a0144c0210 a0144c0210	a0144c0210t0007 a0144c0210t0007	a0144c0210t0007g0298 a0144c0210t0007g0298	1	414	0.0024	243	c.397 others(252): Show c.3970_3971insGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGG GGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGG GTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGT GCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGC AGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAG TTAGAGG	p.Glu others(258): Show p.Glu1323_Glu1324insGlyThrLysGluThrGluGluGlyLeuGln GluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGl uGluArgValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluG luGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGlu GlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGl yValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4235/8014	3970/7203	1324/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610127	T T	TCCTCTAA others(188): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCT CTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCT AACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19090.hp1 NA19090.hp1	a0154 a0154	a0154c0114 a0154c0114	a0154c0114t0001 a0154c0114t0001	a0154c0114t0001g0156 a0154c0114t0001g0156	1	414	0.0024	195	c.397 others(204): Show c.3970_3971insGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGG GGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGG GTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGT GCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGC AGTTAGAGG	p.Glu others(210): Show p.Glu1323_Glu1324insGlyThrLysGluThrGluGluGlyLeuGln GluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGl uGluArgValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluG luGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGlu GlyValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4235/8014	3970/7203	1324/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610127	T T	TCCTCTAA others(41): Show TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00280.hp2 HG00733.hp2 others(43): Show HG00099.hp2 HG00280.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01517.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02145.hp1 HG02280.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03239.hp2 HG03490.hp2 HG03710.hp1 HG03834.hp1 NA18906.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0005 a0009 a0015 others(11): Show a0005 a0009 a0015 a0017 a0018 a0092 a0093 a0110 a0141 a0145 a0147 a0148 a0166 a0173	a0005c0003 a0009c0009 a0009c0163 others(15): Show a0005c0003 a0009c0009 a0009c0163 a0015c0012 a0017c0018 a0017c0059 a0018c0044 a0018c0058 a0018c0097 a0092c0161 a0093c0162 a0110c0064 a0141c0070 a0145c0068 a0147c0099 a0148c0098 a0166c0106 a0173c0060	a0005c0003t0003 a0005c0003t0006 a0009c0009t0003 others(18): Show a0005c0003t0003 a0005c0003t0006 a0009c0009t0003 a0009c0009t0006 a0009c0163t0006 a0015c0012t0003 a0017c0018t0003 a0017c0018t0006 a0017c0059t0003 a0018c0044t0003 a0018c0058t0003 a0018c0097t0003 a0092c0161t0006 a0093c0162t0009 a0110c0064t0003 a0141c0070t0003 a0145c0068t0003 a0147c0099t0003 a0148c0098t0003 a0166c0106t0003 a0173c0060t0005	a0005c0003t0003g0299 a0005c0003t0003g0300 a0005c0003t0003g0302 others(43): Show a0005c0003t0003g0299 a0005c0003t0003g0300 a0005c0003t0003g0302 a0005c0003t0003g0304 a0005c0003t0003g0307 a0005c0003t0003g0319 a0005c0003t0003g0320 a0005c0003t0003g0321 a0005c0003t0003g0324 a0005c0003t0003g0326 a0005c0003t0003g0329 a0005c0003t0003g0354 a0005c0003t0003g0357 a0005c0003t0003g0358 a0005c0003t0003g0407 a0005c0003t0006g0141 a0009c0009t0003g0382 a0009c0009t0003g0387 a0009c0009t0003g0389 a0009c0009t0003g0400 a0009c0009t0006g0242 a0009c0009t0006g0246 a0009c0009t0006g0251 a0009c0163t0006g0247 a0015c0012t0003g0305 a0015c0012t0003g0306 a0015c0012t0003g0310 a0015c0012t0003g0311 a0015c0012t0003g0314 a0017c0018t0003g0296 a0017c0018t0003g0383 a0017c0018t0006g0241 a0017c0059t0003g0293 a0018c0044t0003g0328 a0018c0044t0003g0338 a0018c0058t0003g0367 a0018c0097t0003g0398 a0092c0161t0006g0219 a0093c0162t0009g0366 a0110c0064t0003g0316 a0141c0070t0003g0385 a0145c0068t0003g0308 a0147c0099t0003g0323 a0148c0098t0003g0353 a0166c0106t0003g0313 a0173c0060t0005g0386	46	414	0.1111	48	c.397 others(57): Show c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGG TGCAGTTAGAGG	p.Glu others(63): Show p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGlu GluArgValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4235/8014	3970/7203	1324/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610127	T T	TCCTCTAA others(92): Show TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02132.hp2 NA18984.hp1 NA19070.hp2 HG02132.hp2 NA18984.hp1 NA19070.hp2	a0008 a0116 a0153 a0008 a0116 a0153	a0008c0147 a0116c0078 a0153c0115 a0008c0147 a0116c0078 a0153c0115	a0008c0147t0001 a0116c0078t0001 a0153c0115t0001 a0008c0147t0001 a0116c0078t0001 a0153c0115t0001	a0008c0147t0001g0207 a0116c0078t0001g0187 a0153c0115t0001g0009 a0008c0147t0001g0207 a0116c0078t0001g0187 a0153c0115t0001g0009	3	414	0.0073	99	c.397 others(108): Show c.3970_3971insGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGG GGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGG GTGCAGTTAGAGG	p.Glu others(114): Show p.Glu1323_Glu1324insGlyThrLysGluThrGluGluGlyLeuGln GluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGl uGluArgValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4235/8014	3970/7203	1324/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610137	G G	GCACCACC others(185): Show GCACCACCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGC ACCGCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCAC CCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCC CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00738.hp2 HG00738.hp2	a0142 a0142	a0142c0066 a0142c0066	a0142c0066t0005 a0142c0066t0005	a0142c0066t0005g0399 a0142c0066t0005g0399	1	414	0.0024	192	c.396 others(201): Show c.3960_3961insGAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAA GAAGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGA AGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGAAG AGGCGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAG GTGGTG	p.Val others(207): Show p.Val1320_Gln1321insGluLeuGluGluThrLysThrGluGluGly LeuGlnGluGluGlyValGlnLeuGluGlyThrLysThrGluGluGlyLe uGlnGluGluGlyValGlnLeuGluGlyThrLysThrGluGluGlyLeuG lnGluGluAlaValGlnLeuGluGluThrLysThrGluGluGlyLeuGln GluGluValVal	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4225/8014	3960/7203	1320/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610137	G G	GCACCCCC others(137): Show GCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGC ACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCAC CCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03942.hp1 HG04199.hp1 HG04228.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp2	a0024 a0024	a0024c0022 a0024c0022	a0024c0022t0002 a0024c0022t0005 a0024c0022t0002 a0024c0022t0005	a0024c0022t0002g0054 a0024c0022t0005g0351 a0024c0022t0005g0362 a0024c0022t0002g0054 a0024c0022t0005g0351 a0024c0022t0005g0362	3	414	0.0073	144	c.396 others(153): Show c.3960_3961insGAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAA GAAGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGA AGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAG AGGGGGTG	p.Val others(159): Show p.Val1320_Gln1321insGluLeuGluGluThrLysThrGluGluGly LeuGlnGluGluGlyValGlnLeuGluGlyThrLysThrGluGluGlyLe uGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuG lnGluGluGlyVal	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4225/8014	3960/7203	1320/2400		chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610143	C C	TCTCTTCT others(41): Show TCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02451.hp2 HG02451.hp2	a0146 a0146	a0146c0069 a0146c0069	a0146c0069t0007 a0146c0069t0007	a0146c0069t0007g0297 a0146c0069t0007g0297	1	414	0.0024	48	c.395 others(57): Show c.3955_3956insGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGC TGCAAGAAGAGA	p.Ala others(61): Show p.Ala1319delinsGlyValGlnLeuGluGlyThrLysValIleGluGl yLeuGlnGluGluThr	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4220/8014	3955/7203	1319/2400		chr8	TogoVar
RPGR_chrX_38279408_38332509	38286027	T T	TCTC TCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02809.hp1 HG02809.hp1	a0036 a0036	a0036c0038 a0036c0038	a0036c0038t0001 a0036c0038t0001	a0036c0038t0001g0184 a0036c0038t0001g0184	1	302	0.0033	3	c.297 others(12): Show c.2971_2972insGAG	p.Gly others(6): Show p.Gly990dup	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding	15/15	3113/4733	2971/3459	991/1152		chrX	TogoVar
RPGR_chrX_38279408_38332509	38286145	C C	CCTCCTCC others(2): Show CCTCCTCCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19006.hp1 NA19006.hp1	a0030 a0030	a0030c0030 a0030c0030	a0030c0030t0002 a0030c0030t0002	a0030c0030t0002g0115 a0030c0030t0002g0115	1	302	0.0033	9	c.285 others(18): Show c.2853_2854insAAGGAGGAG	p.Glu others(22): Show p.Glu951_Glu952insLysGluGlu	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding	15/15	2995/4733	2853/3459	951/1152		chrX	TogoVar
RPGR_chrX_38279408_38332509	38286366	C C	CCCTCCCC others(20): Show CCCTCCCCTTCTCCTTCCTCCCCTTCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp1 NA19030.hp1 NA19240.hp2 HG02109.hp1 NA19030.hp1 NA19240.hp2	a0014 a0037 a0014 a0037	a0014c0014 a0037c0039 a0014c0014 a0037c0039	a0014c0014t0001 a0037c0039t0001 a0014c0014t0001 a0037c0039t0001	a0014c0014t0001g0206 a0014c0014t0001g0207 a0037c0039t0001g0046 a0014c0014t0001g0206 a0014c0014t0001g0207 a0037c0039t0001g0046	3	302	0.0099	27	c.260 others(36): Show c.2606_2632dupAAGAAGGGGAGGAAGGAGAAGGGGAGG	p.Glu others(13): Show p.Glu869_Glu877dup	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding	15/15	2774/4733	2632/3459	878/1152		chrX	TogoVar
RPL14_chr3_40452339_40473587	40462027	G G	GTGCTGCT others(8): Show GTGCTGCTGCTGCTGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01358.hp2 NA18940.hp1 NA18944.hp1 others(5): Show HG01358.hp2 NA18940.hp1 NA18944.hp1 NA18959.hp1 NA18961.hp1 NA18966.hp2 NA19065.hp2 NA19083.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0006 a0010c0010t0006	a0010c0010t0006g0002 a0010c0010t0006g0002	8	418	0.0191	15	c.444 others(22): Show c.444_445insGCTGCTGCTGCTGCT	p.Gly others(28): Show p.Gly148_Thr149insAlaAlaAlaAlaAla	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	578/7136	445/648	149/215	INFO_REALIGN_3_PRIME	chr3	TogoVar
RPL14_chr3_40452339_40473587	40462029	A A	ACTG ACTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp1 HG00642.hp1 HG01168.hp1 others(36): Show HG00621.hp1 HG00642.hp1 HG01168.hp1 HG01169.hp1 HG01884.hp1 HG01891.hp1 HG01981.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03834.hp1 NA18522.hp1 NA18522.hp2 NA18955.hp2 NA18956.hp1 NA18964.hp1 NA18999.hp1 NA19003.hp1 NA19066.hp1 NA19070.hp2 NA19075.hp1 NA19081.hp2 NA19088.hp2 NA19240.hp1 NA20752.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 others(9): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0009 a0004c0004t0019 a0004c0004t0025 a0004c0004t0026 a0004c0004t0027 a0004c0004t0044 a0004c0004t0055 a0004c0004t0060 a0004c0004t0061	a0004c0004t0001g0001 a0004c0004t0002g0002 a0004c0004t0003g0008 others(18): Show a0004c0004t0001g0001 a0004c0004t0002g0002 a0004c0004t0003g0008 a0004c0004t0003g0014 a0004c0004t0003g0015 a0004c0004t0003g0020 a0004c0004t0003g0021 a0004c0004t0003g0036 a0004c0004t0003g0090 a0004c0004t0009g0010 a0004c0004t0019g0002 a0004c0004t0019g0008 a0004c0004t0025g0014 a0004c0004t0026g0014 a0004c0004t0026g0083 a0004c0004t0027g0014 a0004c0004t0027g0086 a0004c0004t0044g0082 a0004c0004t0055g0041 a0004c0004t0060g0008 a0004c0004t0061g0015	39	418	0.0933	3	c.475 others(10): Show c.475_477dupGCT	p.Ala others(6): Show p.Ala159dup	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	611/7136	478/648	160/215	INFO_REALIGN_3_PRIME	chr3	TogoVar
RPL14_chr3_40452339_40473587	40462029	A A	ACTGCTG ACTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp1 HG00323.hp1 HG00438.hp1 others(106): Show HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG01071.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03239.hp2 HG03486.hp2 HG03516.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 NA18939.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18985.hp1 NA18989.hp1 NA18991.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19062.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0020 a0001c0001 a0019c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0062 a0001c0001t0066 a0001c0001t0069 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0001t0094 a0001c0001t0114 a0019c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0002g0005 a0001c0001t0003g0021 a0001c0001t0012g0005 a0001c0001t0012g0011 a0001c0001t0014g0022 a0001c0001t0016g0001 a0001c0001t0016g0003 a0001c0001t0016g0049 a0001c0001t0017g0001 a0001c0001t0018g0001 a0001c0001t0018g0030 a0001c0001t0021g0001 a0001c0001t0028g0001 a0001c0001t0028g0046 a0001c0001t0029g0001 a0001c0001t0030g0001 a0001c0001t0031g0003 a0001c0001t0032g0050 a0001c0001t0062g0001 a0001c0001t0066g0001 a0001c0001t0069g0051 a0001c0001t0071g0001 a0001c0001t0073g0013 a0001c0001t0074g0013 a0001c0001t0076g0003 a0001c0001t0077g0003 a0001c0001t0079g0013 a0001c0001t0081g0001 a0001c0001t0082g0001 a0001c0001t0083g0003 a0001c0001t0085g0008 a0001c0001t0094g0005 a0001c0001t0114g0066 a0019c0020t0001g0044	109	418	0.2608	6	c.472 others(13): Show c.472_477dupGCTGCT	p.Ala others(13): Show p.Ala158_Ala159dup	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	611/7136	478/648	160/215	INFO_REALIGN_3_PRIME	chr3	TogoVar
RPL14_chr3_40452339_40473587	40462029	A A	ACTGCTGC others(2): Show ACTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(93): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01884.hp2 HG01943.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02922.hp2 HG03490.hp1 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19063.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20805.hp2	a0002 a0021 a0002 a0021	a0002c0002 a0021c0021 a0002c0002 a0021c0021	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(29): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0013 a0002c0002t0014 a0002c0002t0016 a0002c0002t0018 a0002c0002t0022 a0002c0002t0032 a0002c0002t0036 a0002c0002t0054 a0002c0002t0059 a0002c0002t0070 a0002c0002t0072 a0002c0002t0086 a0002c0002t0090 a0002c0002t0092 a0002c0002t0093 a0002c0002t0096 a0002c0002t0099 a0002c0002t0100 a0002c0002t0101 a0002c0002t0104 a0002c0002t0105 a0002c0002t0106 a0002c0002t0108 a0002c0002t0109 a0002c0002t0110 a0021c0021t0002	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0030 others(50): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0030 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0019 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0035 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0067 a0002c0002t0004g0002 a0002c0002t0004g0004 a0002c0002t0004g0005 a0002c0002t0004g0062 a0002c0002t0004g0076 a0002c0002t0007g0007 a0002c0002t0007g0027 a0002c0002t0007g0072 a0002c0002t0008g0012 a0002c0002t0008g0042 a0002c0002t0008g0071 a0002c0002t0010g0002 a0002c0002t0010g0004 a0002c0002t0010g0024 a0002c0002t0010g0087 a0002c0002t0013g0009 a0002c0002t0014g0022 a0002c0002t0016g0003 a0002c0002t0018g0001 a0002c0002t0022g0001 a0002c0002t0032g0001 a0002c0002t0036g0002 a0002c0002t0054g0009 a0002c0002t0059g0009 a0002c0002t0070g0001 a0002c0002t0072g0001 a0002c0002t0086g0024 a0002c0002t0090g0005 a0002c0002t0092g0094 a0002c0002t0093g0002 a0002c0002t0096g0004 a0002c0002t0099g0002 a0002c0002t0100g0079 a0002c0002t0101g0012 a0002c0002t0104g0002 a0002c0002t0105g0002 a0002c0002t0106g0037 a0002c0002t0108g0004 a0002c0002t0109g0004 a0002c0002t0110g0037 a0021c0021t0002g0027	96	418	0.2297	9	c.469 others(16): Show c.469_477dupGCTGCTGCT	p.Ala others(13): Show p.Ala157_Ala159dup	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	611/7136	478/648	160/215	INFO_REALIGN_3_PRIME	chr3	TogoVar
RPL14_chr3_40452339_40473587	40462029	A A	ACTGCTGC others(5): Show ACTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00423.hp1 HG00733.hp1 HG02071.hp1 others(6): Show HG00423.hp1 HG00733.hp1 HG02071.hp1 HG02809.hp2 HG03209.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 NA19057.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0002 a0009c0008t0034 others(5): Show a0009c0008t0001 a0009c0008t0002 a0009c0008t0034 a0009c0008t0036 a0009c0008t0063 a0009c0008t0064 a0009c0008t0067 a0009c0008t0068	a0009c0008t0001g0040 a0009c0008t0002g0002 a0009c0008t0002g0069 others(6): Show a0009c0008t0001g0040 a0009c0008t0002g0002 a0009c0008t0002g0069 a0009c0008t0034g0002 a0009c0008t0036g0002 a0009c0008t0063g0033 a0009c0008t0064g0033 a0009c0008t0067g0001 a0009c0008t0068g0001	9	418	0.0215	12	c.466 others(19): Show c.466_477dupGCTGCTGCTGCT	p.Ala others(13): Show p.Ala156_Ala159dup	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	611/7136	478/648	160/215	INFO_REALIGN_3_PRIME	chr3	TogoVar
RPL14_chr3_40452339_40473587	40462029	A A	ACTGCTGC others(8): Show ACTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(74): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01257.hp1 HG01261.hp1 HG01928.hp2 HG01943.hp2 HG01993.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18965.hp2 NA18969.hp2 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 others(26): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0006 a0003c0003t0007 a0003c0003t0013 a0003c0003t0034 a0003c0003t0035 a0003c0003t0037 a0003c0003t0038 a0003c0003t0039 a0003c0003t0040 a0003c0003t0053 a0003c0003t0078 a0003c0003t0087 a0003c0003t0088 a0003c0003t0089 a0003c0003t0095 a0003c0003t0103 a0003c0003t0107 a0003c0003t0112 a0003c0003t0116 a0003c0003t0117 a0003c0003t0118 a0003c0003t0119 a0003c0003t0120 a0003c0003t0121 a0003c0003t0123 a0003c0003t0124	a0003c0003t0001g0001 a0003c0003t0002g0002 a0003c0003t0002g0004 others(44): Show a0003c0003t0001g0001 a0003c0003t0002g0002 a0003c0003t0002g0004 a0003c0003t0002g0005 a0003c0003t0002g0011 a0003c0003t0002g0075 a0003c0003t0002g0088 a0003c0003t0005g0004 a0003c0003t0005g0005 a0003c0003t0005g0006 a0003c0003t0005g0018 a0003c0003t0005g0026 a0003c0003t0005g0078 a0003c0003t0005g0080 a0003c0003t0006g0002 a0003c0003t0006g0004 a0003c0003t0006g0065 a0003c0003t0007g0002 a0003c0003t0007g0016 a0003c0003t0007g0064 a0003c0003t0007g0091 a0003c0003t0013g0009 a0003c0003t0013g0055 a0003c0003t0034g0073 a0003c0003t0035g0005 a0003c0003t0037g0002 a0003c0003t0038g0004 a0003c0003t0038g0077 a0003c0003t0039g0002 a0003c0003t0040g0002 a0003c0003t0053g0009 a0003c0003t0078g0058 a0003c0003t0087g0005 a0003c0003t0088g0002 a0003c0003t0089g0002 a0003c0003t0095g0002 a0003c0003t0103g0002 a0003c0003t0107g0081 a0003c0003t0112g0016 a0003c0003t0116g0006 a0003c0003t0117g0006 a0003c0003t0118g0006 a0003c0003t0119g0006 a0003c0003t0120g0004 a0003c0003t0121g0026 a0003c0003t0123g0024 a0003c0003t0124g0026	77	418	0.1842	15	c.463 others(22): Show c.463_477dupGCTGCTGCTGCTGCT	p.Ala others(13): Show p.Ala155_Ala159dup	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	611/7136	478/648	160/215	INFO_REALIGN_3_PRIME	chr3	TogoVar
RPL14_chr3_40452339_40473587	40462029	A A	ACTGCTGC others(11): Show ACTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00558.hp1 HG00558.hp2 HG01358.hp1 others(11): Show HG00558.hp1 HG00558.hp2 HG01358.hp1 HG01993.hp2 HG02080.hp1 HG03195.hp1 HG03486.hp1 HG03491.hp1 NA18960.hp2 NA18962.hp2 NA18997.hp1 NA19011.hp2 NA19065.hp1 NA20905.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0004 a0006c0006t0005 others(3): Show a0006c0006t0002 a0006c0006t0004 a0006c0006t0005 a0006c0006t0014 a0006c0006t0097 a0006c0006t0102	a0006c0006t0002g0002 a0006c0006t0002g0005 a0006c0006t0002g0007 others(8): Show a0006c0006t0002g0002 a0006c0006t0002g0005 a0006c0006t0002g0007 a0006c0006t0002g0011 a0006c0006t0004g0011 a0006c0006t0005g0002 a0006c0006t0005g0018 a0006c0006t0014g0022 a0006c0006t0014g0089 a0006c0006t0097g0002 a0006c0006t0102g0063	14	418	0.0335	18	c.460 others(25): Show c.460_477dupGCTGCTGCTGCTGCTGCT	p.Ala others(13): Show p.Ala154_Ala159dup	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	611/7136	478/648	160/215	INFO_REALIGN_3_PRIME	chr3	TogoVar
RPL14_chr3_40452339_40473587	40462029	A A	ACTGCTGC others(14): Show ACTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp2 NA18946.hp1 HG00621.hp2 NA18946.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0005 a0015c0017t0091 a0015c0017t0005 a0015c0017t0091	a0015c0017t0005g0006 a0015c0017t0091g0002 a0015c0017t0005g0006 a0015c0017t0091g0002	2	418	0.0048	21	c.457 others(28): Show c.457_477dupGCTGCTGCTGCTGCTGCTGCT	p.Ala others(13): Show p.Ala153_Ala159dup	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	611/7136	478/648	160/215	INFO_REALIGN_3_PRIME	chr3	TogoVar
RPL14_chr3_40452339_40473587	40462029	A A	ACTGCTGC others(26): Show ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18948.hp2 NA18965.hp1 NA18994.hp1 NA18948.hp2 NA18965.hp1 NA18994.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0002 a0013c0013t0002	a0013c0013t0002g0007 a0013c0013t0002g0007	3	418	0.0072	33	c.477 others(40): Show c.477_478insGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	p.Ala others(46): Show p.Ala159_Lys160insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAl a	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	611/7136	478/648	160/215	INFO_REALIGN_3_PRIME	chr3	TogoVar

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